#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SDF4	51150	broad.mit.edu	37	1	1154233	1154233	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:1154233C>T	ENST00000360001.6	-	5	914	c.652G>A	c.(652-654)Gag>Aag	p.E218K	SDF4_ENST00000263741.7_Missense_Mutation_p.E218K			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	218	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)	p.E218K(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		AACTCCTCCTCCGTCAGCAGC	0.642																																						uc001adh.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(652-654)GAG>AAG		stromal cell derived factor 4 isoform 2							82.0	88.0	86.0					1																	1154233		2203	4299	6502	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding	g.chr1:1154233C>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.652G>A	1.37:g.1154233C>T	ENSP00000353094:p.Glu218Lys					SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Missense_Mutation_p.E218K|SDF4_uc009vjv.2_Missense_Mutation_p.E96K|SDF4_uc009vjw.2_RNA	p.E218K	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	5	981	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	218			EF-hand 3.|3 (Potential).		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.652G>A	CCDS30553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.19|14.19	2.460239|2.460239	0.43736|0.43736	.|.	.|.	ENSG00000078808|ENSG00000078808	ENST00000360001;ENST00000263741|ENST00000403997	T;T|.	0.18502|.	2.21;2.21|.	4.69|4.69	4.69|4.69	0.59074|0.59074	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45776|0.45776	0.1359|0.1359	N|N	0.10874|0.10874	0.06|0.06	0.80722|0.80722	D|D	1|1	D;B|.	0.57571|.	0.98;0.013|.	P;B|.	0.56278|.	0.795;0.024|.	T|T	0.41875|0.41875	-0.9484|-0.9484	10|5	0.02654|.	T|.	1|.	-35.1234|-35.1234	16.5925|16.5925	0.84770|0.84770	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	218;218|.	Q9BRK5-6;Q9BRK5|.	.;CAB45_HUMAN|.	K|E	218|178	ENSP00000353094:E218K;ENSP00000263741:E218K|.	ENSP00000263741:E218K|.	E|G	-|-	1|2	0|0	SDF4|SDF4	1144096|1144096	1.000000|1.000000	0.71417|0.71417	0.739000|0.739000	0.30968|0.30968	0.038000|0.038000	0.13279|0.13279	5.756000|5.756000	0.68757|0.68757	2.147000|2.147000	0.66899|0.66899	0.305000|0.305000	0.20034|0.20034	GAG|GGA		PASS	0.642	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		51	440	51	440	---	---	---	---
SSU72	29101	broad.mit.edu	37	1	1509930	1509930	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:1509930G>A	ENST00000291386.3	-	1	319	c.8C>T	c.(7-9)tCg>tTg	p.S3L	AL645728.1_ENST00000366221.2_5'Flank|SSU72_ENST00000359060.4_Missense_Mutation_p.S3L	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	3					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)	p.S3L(1)		large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CAGCGGGGACGACGGCATGGC	0.706																																						uc001agd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)TCG>TTG		Ssu72 RNA polymerase II CTD phosphatase homolog							37.0	25.0	29.0					1																	1509930		2195	4299	6494	SO:0001583	missense	29101				mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	g.chr1:1509930G>A	AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.8C>T	1.37:g.1509930G>A	ENSP00000291386:p.Ser3Leu					SSU72_uc009vkg.1_Missense_Mutation_p.S3L|SSU72_uc001age.1_Missense_Mutation_p.S3L	p.S3L	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	1	333	-	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	3					Q9BZS6|Q9H933	Missense_Mutation	SNP	ENST00000291386.3	37	c.8C>T	CCDS32.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526432	0.64860	.	.	ENSG00000160075	ENST00000291386;ENST00000378725;ENST00000359060	T;T	0.16897	2.31;2.31	3.95	3.95	0.45737	.	0.350330	0.27294	N	0.020022	T	0.11452	0.0279	N	0.19112	0.55	0.45837	D	0.9987	B;B;B	0.26935	0.004;0.164;0.0	B;B;B	0.18263	0.009;0.021;0.001	T	0.12837	-1.0532	10	0.32370	T	0.25	-3.9771	14.7173	0.69280	0.0:0.0:1.0:0.0	.	3;3;3	B4DMK6;Q9NP77-2;Q9NP77	.;.;SSU72_HUMAN	L	3	ENSP00000291386:S3L;ENSP00000351955:S3L	ENSP00000291386:S3L	S	-	2	0	SSU72	1499793	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	2.977000	0.49297	2.051000	0.60960	0.313000	0.20887	TCG		PASS	0.706	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001366.1	NM_014188		10	31	10	31	---	---	---	---
THAP3	90326	broad.mit.edu	37	1	6692962	6692962	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:6692962T>C	ENST00000054650.4	+	6	703	c.545T>C	c.(544-546)cTt>cCt	p.L182P	DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000307896.6_Missense_Mutation_p.L181P|THAP3_ENST00000377627.3_Intron	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	182							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L182P(1)		breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGCTATGCCCTTTTGGACTTA	0.567																																						uc001aoc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)CTT>CCT		RecName: Full=THAP domain-containing protein 3;							80.0	82.0	82.0					1																	6692962		876	1991	2867	SO:0001583	missense	90326						DNA binding|metal ion binding	g.chr1:6692962T>C	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"""THAP (C2CH-type zinc finger) domain containing"""	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.545T>C	1.37:g.6692962T>C	ENSP00000054650:p.Leu182Pro					THAP3_uc001aod.2_Missense_Mutation_p.L181P|THAP3_uc001aoe.1_Intron	p.L182P			Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	704	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	182					Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Missense_Mutation	SNP	ENST00000054650.4	37	c.545T>C	CCDS55572.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682959	0.68157	.	.	ENSG00000041988	ENST00000054650;ENST00000307896	D;D	0.96802	-4.13;-4.13	4.05	4.05	0.47172	.	0.529158	0.14984	N	0.287069	D	0.97284	0.9112	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.96587	0.9435	10	0.72032	D	0.01	-24.6352	9.3095	0.37895	0.0:0.0:0.0:1.0	.	181;182	Q8WTV1-3;Q8WTV1	.;THAP3_HUMAN	P	182;181	ENSP00000054650:L182P;ENSP00000311537:L181P	ENSP00000054650:L182P	L	+	2	0	THAP3	6615549	0.996000	0.38824	0.997000	0.53966	0.985000	0.73830	4.508000	0.60441	1.683000	0.51011	0.379000	0.24179	CTT		PASS	0.567	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350		4	174	4	174	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10434507	10434507	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:10434507G>C	ENST00000377086.1	+	46	5282	c.5080G>C	c.(5080-5082)Gaa>Caa	p.E1694Q	KIF1B_ENST00000377081.1_Missense_Mutation_p.E1694Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.E1648Q			O60333	KIF1B_HUMAN	kinesin family member 1B	1694					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E1648Q(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCAGATATTGAAGAAATTAG	0.428																																						uc001aqx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(5080-5082)GAA>CAA		kinesin family member 1B isoform b							75.0	79.0	78.0					1																	10434507		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10434507G>C	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5080G>C	1.37:g.10434507G>C	ENSP00000366290:p.Glu1694Gln					KIF1B_uc001aqw.3_Missense_Mutation_p.E1648Q|KIF1B_uc001aqy.2_Missense_Mutation_p.E1668Q|KIF1B_uc001aqz.2_Missense_Mutation_p.E1694Q|KIF1B_uc001ara.2_Missense_Mutation_p.E1654Q|KIF1B_uc001arb.2_Missense_Mutation_p.E1680Q	p.E1694Q	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	46	5282	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1694					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.5080G>C		.	.	.	.	.	.	.	.	.	.	G	11.58	1.680936	0.29872	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72835	-0.61;-0.68;-0.69	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	N	0.16567	0.415	0.80722	D	1	B;P;B;B;B;D	0.61080	0.005;0.651;0.005;0.019;0.06;0.989	B;B;B;B;B;D	0.70487	0.008;0.115;0.012;0.049;0.031;0.969	T	0.66532	-0.5900	10	0.12103	T	0.63	.	19.6632	0.95882	0.0:0.0:1.0:0.0	.	1680;1654;1694;1668;1694;1648	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	Q	1694;1648;1694;1694	ENSP00000263934:E1648Q;ENSP00000366290:E1694Q;ENSP00000366284:E1694Q	ENSP00000263934:E1648Q	E	+	1	0	KIF1B	10357094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.625000	0.88918	0.655000	0.94253	GAA		PASS	0.428	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			12	226	12	226	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21036133	21036133	+	Splice_Site	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:21036133C>T	ENST00000247986.2	-	4	979	c.669G>A	c.(667-669)gtG>gtA	p.V223V	KIF17_ENST00000375044.1_Splice_Site_p.V123V|KIF17_ENST00000400463.3_Splice_Site_p.V223V			Q9P2E2	KIF17_HUMAN	kinesin family member 17	223	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.V223V(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTCGCATACCCACGGCAGACA	0.612																																						uc001bdr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(667-669)GTG>GTA		kinesin family member 17 isoform a							113.0	81.0	92.0					1																	21036133		2203	4300	6503	SO:0001630	splice_region_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21036133C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.670+1G>A	1.37:g.21036133C>T						KIF17_uc001bds.3_Silent_p.V223V	p.V223V	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	4	787	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	223			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.669G>A	CCDS213.1																																																																																				PASS	0.612	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	Silent	6	104	6	104	---	---	---	---
C1QB	713	broad.mit.edu	37	1	22987712	22987712	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:22987712G>T	ENST00000314933.6	+	3	727	c.595G>T	c.(595-597)Gac>Tac	p.D199Y	C1QB_ENST00000509305.1_Missense_Mutation_p.D197Y	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	199	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.D199Y(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCTTCTGTGACTATGCCTA	0.592																																						uc001bgd.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(595-597)GAC>TAC		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						64.0	58.0	60.0					1																	22987712		2203	4300	6503	SO:0001583	missense	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987712G>T	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.595G>T	1.37:g.22987712G>T	ENSP00000313967:p.Asp199Tyr						p.D199Y	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	727	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	199			C1q.		Q5T959|Q96H17	Missense_Mutation	SNP	ENST00000314933.6	37	c.595G>T	CCDS228.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333189	0.60853	.	.	ENSG00000173369	ENST00000509305;ENST00000432749;ENST00000314933	T;T;T	0.77098	-1.07;-1.07;-1.07	4.67	4.67	0.58626	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.88241	2.94	0.45378	D	0.998367	D	0.89917	1.0	D	0.97110	1.0	D	0.91082	0.4900	9	.	.	.	.	16.6972	0.85339	0.0:0.0:1.0:0.0	.	199	P02746	C1QB_HUMAN	Y	197;197;199	ENSP00000423689:D197Y;ENSP00000404606:D197Y;ENSP00000313967:D199Y	.	D	+	1	0	C1QB	22860299	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	8.995000	0.93534	2.596000	0.87737	0.561000	0.74099	GAC		PASS	0.592	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		20	76	20	76	---	---	---	---
TXLNA	200081	broad.mit.edu	37	1	32657926	32657926	+	Silent	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:32657926C>G	ENST00000373609.1	+	6	1259	c.978C>G	c.(976-978)gtC>gtG	p.V326V	TXLNA_ENST00000373610.3_Silent_p.V326V			P40222	TXLNA_HUMAN	taxilin alpha	326					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)	p.V326V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCGACAAAGTCTTCAAACACA	0.577																																						uc001bui.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(976-978)GTC>GTG		taxilin							92.0	90.0	90.0					1																	32657926		2203	4300	6503	SO:0001819	synonymous_variant	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32657926C>G	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.978C>G	1.37:g.32657926C>G						TXLNA_uc001buj.2_Silent_p.V326V	p.V326V	NM_175852	NP_787048	P40222	TXLNA_HUMAN			7	1043	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	326			Potential.		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Silent	SNP	ENST00000373609.1	37	c.978C>G	CCDS353.1																																																																																				PASS	0.577	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852		25	178	25	178	---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38003401	38003401	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:38003401T>C	ENST00000296215.6	-	4	1211	c.1139A>G	c.(1138-1140)gAc>gGc	p.D380G	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	380					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D380G(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				ATCTTTCCTGTCTATTTCAGA	0.423																																						uc001cbi.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(1138-1140)GAC>GGC		Smad nuclear interacting protein							210.0	195.0	200.0					1																	38003401		2203	4300	6503	SO:0001583	missense	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38003401T>C		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1139A>G	1.37:g.38003401T>C	ENSP00000296215:p.Asp380Gly					SNIP1_uc010oid.1_RNA	p.D380G	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN			4	1212	-		Myeloproliferative disorder(586;0.0393)	380					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.1139A>G	CCDS419.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181869	0.78677	.	.	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.50001	0.76	6.17	6.17	0.99709	.	0.103006	0.64402	D	0.000004	T	0.49881	0.1583	N	0.24115	0.695	0.80722	D	1	D	0.59357	0.985	P	0.55222	0.771	T	0.50004	-0.8878	10	0.48119	T	0.1	-24.2608	16.4957	0.84242	0.0:0.0:0.0:1.0	.	380	Q8TAD8	SNIP1_HUMAN	G	380;364	ENSP00000296215:D380G	ENSP00000296215:D380G	D	-	2	0	SNIP1	37775988	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.649000	0.83500	2.371000	0.80710	0.533000	0.62120	GAC		PASS	0.423	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		52	187	52	187	---	---	---	---
HPDL	84842	broad.mit.edu	37	1	45793514	45793514	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:45793514G>A	ENST00000334815.3	+	1	970	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	232					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)	p.E232K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGTTCTGGCTGAGTCCCTTCC	0.652																																						uc001cne.2																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)GAG>AAG		glyoxalase domain containing 1							58.0	63.0	61.0					1																	45793514		2202	4300	6502	SO:0001583	missense	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45793514G>A	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.694G>A	1.37:g.45793514G>A	ENSP00000335060:p.Glu232Lys						p.E232K	NM_032756	NP_116145	Q96IR7	HPDL_HUMAN			1	970	+	Acute lymphoblastic leukemia(166;0.155)		232					B2R9B0	Missense_Mutation	SNP	ENST00000334815.3	37	c.694G>A	CCDS519.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840316	0.71488	.	.	ENSG00000186603	ENST00000334815	T	0.68903	-0.36	5.31	5.31	0.75309	.	0.109561	0.64402	D	0.000011	D	0.88573	0.6473	H	0.96662	3.86	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.91955	0.5574	10	0.87932	D	0	-33.9706	19.1585	0.93522	0.0:0.0:1.0:0.0	.	232	Q96IR7	HPDL_HUMAN	K	232	ENSP00000335060:E232K	ENSP00000335060:E232K	E	+	1	0	HPDL	45566101	1.000000	0.71417	0.958000	0.39756	0.135000	0.20990	6.491000	0.73649	2.759000	0.94783	0.561000	0.74099	GAG		PASS	0.652	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		80	252	80	252	---	---	---	---
CC2D1B	200014	broad.mit.edu	37	1	52821929	52821929	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:52821929C>T	ENST00000371586.2	-	18	2139	c.2001G>A	c.(1999-2001)ctG>ctA	p.L667L	RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000438831.1_Silent_p.L42L|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.L661L	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	667						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.L667L(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGGCCAGCTGCAGGATCTCCA	0.562																																						uc001ctq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1999-2001)CTG>CTA		coiled-coil and C2 domain containing 1B							127.0	127.0	127.0					1																	52821929		2203	4300	6503	SO:0001819	synonymous_variant	200014							g.chr1:52821929C>T	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2001G>A	1.37:g.52821929C>T						CC2D1B_uc001ctr.2_Silent_p.L207L|CC2D1B_uc001cts.2_Silent_p.L352L	p.L667L	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			18	2139	-			667					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Silent	SNP	ENST00000371586.2	37	c.2001G>A	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130244	0.21041	.	.	ENSG00000154222	ENST00000438021;ENST00000450942	.	.	.	5.09	4.16	0.48862	.	.	.	.	.	T	0.53061	0.1773	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50693	-0.8798	4	.	.	.	-9.509	4.8843	0.13696	0.1703:0.6568:0.0:0.1729	.	.	.	.	Y	448;581	.	.	C	-	2	0	CC2D1B	52594517	0.996000	0.38824	1.000000	0.80357	0.918000	0.54935	0.345000	0.19979	1.359000	0.45940	0.561000	0.74099	TGC		PASS	0.562	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		43	253	43	253	---	---	---	---
JUN	3725	broad.mit.edu	37	1	59247951	59247951	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:59247951G>C	ENST00000371222.2	-	1	1834	c.792C>G	c.(790-792)atC>atG	p.I264M	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	264	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.I264M(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	TGGAGGCAGCGATGCGGTTCC	0.612			A		sarcoma																																	uc001cze.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		1	Substitution - Missense(1)		lung(1)		0						c.(790-792)ATC>ATG		jun oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						68.0	68.0	68.0					1																	59247951		2203	4300	6503	SO:0001583	missense	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59247951G>C	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.792C>G	1.37:g.59247951G>C	ENSP00000360266:p.Ile264Met					uc001czf.2_5'Flank|uc010oop.1_5'Flank	p.I264M	NM_002228	NP_002219	P05412	JUN_HUMAN			1	1835	-	all_cancers(7;8.55e-07)		264			Basic motif.		Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	37	c.792C>G	CCDS610.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464008	0.43736	.	.	ENSG00000177606	ENST00000371222	T	0.56941	0.43	4.15	-0.138	0.13464	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.063724	0.64402	D	0.000010	T	0.65176	0.2666	M	0.75085	2.285	0.54753	D	0.999985	D	0.67145	0.996	D	0.70935	0.971	T	0.61768	-0.6995	10	0.87932	D	0	.	7.6697	0.28451	0.3342:0.0:0.5592:0.1066	.	264	P05412	JUN_HUMAN	M	264	ENSP00000360266:I264M	ENSP00000360266:I264M	I	-	3	3	JUN	59020539	1.000000	0.71417	0.987000	0.45799	0.980000	0.70556	0.707000	0.25704	-0.521000	0.06426	-1.134000	0.01955	ATC		PASS	0.612	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		70	216	70	216	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62330108	62330108	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:62330108C>G	ENST00000371158.2	+	20	2752	c.2638C>G	c.(2638-2640)Caa>Gaa	p.Q880E	INADL_ENST00000316485.6_Missense_Mutation_p.Q880E	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	880					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.Q880E(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGAGTTATATCAAGATCCCTC	0.438																																						uc001dab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2638-2640)CAA>GAA		InaD-like							141.0	136.0	138.0					1																	62330108		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62330108C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2638C>G	1.37:g.62330108C>G	ENSP00000360200:p.Gln880Glu					INADL_uc009waf.1_Missense_Mutation_p.Q880E|INADL_uc001daa.2_Missense_Mutation_p.Q880E|INADL_uc001dad.3_Missense_Mutation_p.Q577E|INADL_uc001dac.2_RNA	p.Q880E	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			20	2752	+			880					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.2638C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726747	0.30593	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12147	2.84;2.71	5.48	4.57	0.56435	.	0.579795	0.16517	N	0.210989	T	0.14399	0.0348	M	0.65975	2.015	0.09310	N	0.999996	B;B;B	0.23058	0.029;0.022;0.079	B;B;B	0.20767	0.031;0.01;0.023	T	0.22034	-1.0228	10	0.27082	T	0.32	.	6.0791	0.19931	0.0:0.6787:0.156:0.1653	.	880;880;880	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	E	880	ENSP00000360200:Q880E;ENSP00000326199:Q880E	ENSP00000255202:Q880E	Q	+	1	0	INADL	62102696	0.373000	0.25073	0.251000	0.24312	0.198000	0.23893	1.788000	0.38714	1.319000	0.45190	0.555000	0.69702	CAA		PASS	0.438	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		15	130	15	130	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62713308	62713308	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:62713308C>T	ENST00000371153.4	-	9	3097	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	KANK4_ENST00000317477.4_Missense_Mutation_p.D45N|KANK4_ENST00000371150.1_Missense_Mutation_p.D263N|KANK4_ENST00000354381.3_Missense_Mutation_p.D279N	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	907						cytoplasm (GO:0005737)		p.D907N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCCTCCCTGTCGTGGCTGACT	0.622																																						uc001dah.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(2719-2721)GAC>AAC		ankyrin repeat domain 38							82.0	69.0	73.0					1																	62713308		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62713308C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2719G>A	1.37:g.62713308C>T	ENSP00000360195:p.Asp907Asn					KANK4_uc001dai.3_Missense_Mutation_p.D279N|KANK4_uc001daf.3_Missense_Mutation_p.D45N|KANK4_uc001dag.3_Missense_Mutation_p.D263N	p.D907N	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			9	3096	-			907			ANK 3.		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2719G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401967	0.96030	.	.	ENSG00000132854	ENST00000371153;ENST00000317477;ENST00000354381;ENST00000371150	T;T;T;T	0.48836	0.8;1.52;0.8;0.8	4.64	4.64	0.57946	Ankyrin repeat-containing domain (4);	0.000000	0.38492	N	0.001669	T	0.40372	0.1114	N	0.01505	-0.83	0.45580	D	0.998521	D;D	0.67145	0.996;0.989	P;P	0.62649	0.69;0.905	T	0.61168	-0.7117	10	0.44086	T	0.13	-30.9806	17.6992	0.88290	0.0:1.0:0.0:0.0	.	279;907	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	N	907;45;279;263	ENSP00000360195:D907N;ENSP00000321161:D45N;ENSP00000346352:D279N;ENSP00000360192:D263N	ENSP00000321161:D45N	D	-	1	0	KANK4	62485896	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.571000	0.82399	2.403000	0.81681	0.563000	0.77884	GAC		PASS	0.622	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		28	110	28	110	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75065587	75065587	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:75065587C>G	ENST00000326665.5	-	11	1736	c.1518G>C	c.(1516-1518)gaG>gaC	p.E506D	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E309D	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		506	Glu-rich.							p.E506D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTGTTTCTCCTCATCTACTT	0.338																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1516-1518)GAG>GAC		hypothetical protein LOC127254							154.0	163.0	160.0					1																	75065587		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75065587C>G																												ENST00000326665.5:c.1518G>C	1.37:g.75065587C>G	ENSP00000322609:p.Glu506Asp					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.E300D	p.E506D	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			11	1737	-			506			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1518G>C	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	0.762	-0.769004	0.02974	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.24723	2.21;1.84	5.85	-5.26	0.02772	.	.	.	.	.	T	0.04092	0.0114	L	0.36672	1.1	0.22968	N	0.998492	B;B	0.29115	0.096;0.233	B;B	0.25987	0.038;0.065	T	0.36040	-0.9764	9	0.25751	T	0.34	-7.5709	0.9628	0.01399	0.1768:0.2242:0.286:0.3131	.	309;506	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	D	506;309	ENSP00000322609:E506D;ENSP00000398581:E309D	ENSP00000322609:E506D	E	-	3	2	C1orf173	74838175	0.957000	0.32711	0.906000	0.35671	0.006000	0.05464	-0.099000	0.11007	-0.710000	0.05001	-0.172000	0.13284	GAG		PASS	0.338	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			19	167	19	167	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79357344	79357344	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:79357344G>T	ENST00000370742.3	-	14	1938	c.1875C>A	c.(1873-1875)ttC>ttA	p.F625L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	625					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F625L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCCGAGAAGGAACAGAAGAG	0.478																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1873-1875)TTC>TTA		EGF, latrophilin and seven transmembrane domain							63.0	64.0	63.0					1																	79357344		1962	4138	6100	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79357344G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1875C>A	1.37:g.79357344G>T	ENSP00000359778:p.Phe625Leu						p.F625L	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	14	2031	-			625			Helical; Name=6; (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1875C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718529	0.68844	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.39997	1.05;1.05	5.59	5.59	0.84812	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.35793	1.09	0.54753	D	0.999986	P	0.38223	0.623	P	0.49922	0.626	T	0.07501	-1.0769	9	.	.	.	.	13.8288	0.63368	0.0732:0.0:0.9268:0.0	.	625	Q9HBW9	ELTD1_HUMAN	L	625;83	ENSP00000359778:F625L;ENSP00000383813:F83L	.	F	-	3	2	ELTD1	79129932	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	1.818000	0.39012	2.612000	0.88384	0.655000	0.94253	TTC		PASS	0.478	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		4	90	4	90	---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82409045	82409045	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:82409045A>T	ENST00000370728.1	+	8	1435	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	LPHN2_ENST00000271029.4_Missense_Mutation_p.I264F|LPHN2_ENST00000370715.1_Missense_Mutation_p.I264F|LPHN2_ENST00000359929.3_Missense_Mutation_p.I264F|LPHN2_ENST00000370730.1_Missense_Mutation_p.I264F|LPHN2_ENST00000335786.5_Missense_Mutation_p.I264F|LPHN2_ENST00000370727.1_Missense_Mutation_p.I264F|LPHN2_ENST00000319517.6_Missense_Mutation_p.I264F|LPHN2_ENST00000370721.1_Missense_Mutation_p.I268F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.I264F|LPHN2_ENST00000394879.1_Missense_Mutation_p.I264F|LPHN2_ENST00000370725.1_Missense_Mutation_p.I264F|LPHN2_ENST00000370713.1_Missense_Mutation_p.I264F|LPHN2_ENST00000370723.1_Missense_Mutation_p.I264F			O95490	LPHN2_HUMAN	latrophilin 2	264	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.I264F(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAAGACTGATATCGACCTAGC	0.413																																						uc001dit.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(790-792)ATC>TTC		latrophilin 2 precursor							141.0	135.0	137.0					1																	82409045		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82409045A>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.790A>T	1.37:g.82409045A>T	ENSP00000359763:p.Ile264Phe					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.I264F|LPHN2_uc001div.2_Missense_Mutation_p.I264F|LPHN2_uc009wcd.2_Missense_Mutation_p.I264F	p.I264F	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	971	+			264			Extracellular (Potential).|Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.790A>T		.	.	.	.	.	.	.	.	.	.	A	18.98	3.738409	0.69304	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94565	0.8249	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.973;0.991	D	0.95400	0.8489	10	0.87932	D	0	.	15.6396	0.76984	1.0:0.0:0.0:0.0	.	264;264;264	O95490-3;O95490-4;O95490-2	.;.;.	F	268;264;264;264;264;264;264;264;264;264;264;264;264;264	ENSP00000359756:I268F;ENSP00000359763:I264F;ENSP00000359765:I264F;ENSP00000359762:I264F;ENSP00000359760:I264F;ENSP00000359758:I264F;ENSP00000353006:I264F;ENSP00000359750:I264F;ENSP00000359748:I264F;ENSP00000322270:I264F;ENSP00000359752:I264F;ENSP00000378344:I264F;ENSP00000271029:I264F;ENSP00000337306:I264F	ENSP00000271029:I264F	I	+	1	0	LPHN2	82181633	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	8.962000	0.93254	2.095000	0.63458	0.374000	0.22700	ATC		PASS	0.413	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		41	152	41	152	---	---	---	---
SH3GLB1	51100	broad.mit.edu	37	1	87207947	87207947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:87207947C>G	ENST00000370558.4	+	8	1142	c.818C>G	c.(817-819)tCa>tGa	p.S273*	SH3GLB1_ENST00000482504.1_Nonsense_Mutation_p.S294*|SH3GLB1_ENST00000535010.1_Nonsense_Mutation_p.S173*	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	273					'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)	p.S273*(1)|p.S294*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		CCTGTACCATCAGTTTTACCA	0.408																																						uc001dlw.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(817-819)TCA>TGA		SH3-containing protein SH3GLB1							141.0	124.0	130.0					1																	87207947		2203	4300	6503	SO:0001587	stop_gained	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87207947C>G	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.818C>G	1.37:g.87207947C>G	ENSP00000473267:p.Ser273*					SH3GLB1_uc001dlx.2_Nonsense_Mutation_p.S294*|SH3GLB1_uc001dly.2_Nonsense_Mutation_p.S302*|SH3GLB1_uc001dlz.2_Nonsense_Mutation_p.S173*	p.S273*	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	8	1144	+		Lung NSC(277;0.209)	273					B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Nonsense_Mutation	SNP	ENST00000370558.4	37	c.818C>G	CCDS710.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638913	0.87760	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	.	.	.	5.83	4.9	0.64082	.	0.515250	0.20974	N	0.082330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.8298	11.439	0.50086	0.1456:0.7224:0.1319:0.0	.	.	.	.	X	273;173;294	.	ENSP00000212369:S273X	S	+	2	0	SH3GLB1	86980535	1.000000	0.71417	0.737000	0.30932	0.145000	0.21501	3.895000	0.56258	1.404000	0.46819	0.557000	0.71058	TCA		PASS	0.408	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		17	138	17	138	---	---	---	---
SH3GLB1	51100	broad.mit.edu	37	1	87208108	87208108	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:87208108C>T	ENST00000370558.4	+	8	1303	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	SH3GLB1_ENST00000482504.1_Silent_p.L348L|SH3GLB1_ENST00000535010.1_Silent_p.L227L	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	327	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)	p.L348L(1)|p.L327L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		ATTATCACTTCTGGCAGATGA	0.388																																						uc001dlw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(979-981)CTG>TTG		SH3-containing protein SH3GLB1							96.0	86.0	90.0					1																	87208108		2203	4300	6503	SO:0001819	synonymous_variant	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87208108C>T	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.979C>T	1.37:g.87208108C>T						SH3GLB1_uc001dlx.2_Silent_p.L348L|SH3GLB1_uc001dly.2_Silent_p.L356L|SH3GLB1_uc001dlz.2_Silent_p.L227L	p.L327L	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	8	1305	+		Lung NSC(277;0.209)	327			SH3.		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Silent	SNP	ENST00000370558.4	37	c.979C>T	CCDS710.1																																																																																				PASS	0.388	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		17	107	17	107	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92177902	92177902	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:92177902G>A	ENST00000525962.1	-	12	2125	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F	TGFBR3_ENST00000370399.2_Silent_p.F687F|TGFBR3_ENST00000212355.4_Silent_p.F688F			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	688	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.F688F(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGACAAAGCTGAATCGCTTCT	0.448																																						uc001doh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2062-2064)TTC>TTT		transforming growth factor, beta receptor III							134.0	130.0	131.0					1																	92177902		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92177902G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2064C>T	1.37:g.92177902G>A						TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Silent_p.F646F|TGFBR3_uc001doi.2_Silent_p.F687F|TGFBR3_uc001doj.2_Silent_p.F687F	p.F688F	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	13	2530	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	688			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.2064C>T	CCDS30770.1																																																																																				PASS	0.448	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		14	104	14	104	---	---	---	---
AGL	178	broad.mit.edu	37	1	100366315	100366315	+	Missense_Mutation	SNP	G	G	T	rs200246710		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:100366315G>T	ENST00000294724.4	+	26	3964	c.3486G>T	c.(3484-3486)caG>caT	p.Q1162H	AGL_ENST00000370161.2_Missense_Mutation_p.Q1146H|AGL_ENST00000370163.3_Missense_Mutation_p.Q1162H|AGL_ENST00000361522.4_Missense_Mutation_p.Q1145H|AGL_ENST00000361915.3_Missense_Mutation_p.Q1162H|AGL_ENST00000370165.3_Missense_Mutation_p.Q1162H|AGL_ENST00000361302.3_Missense_Mutation_p.Q1146H	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1162					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.Q1162H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGTGTATCCAGGATTACTGTA	0.468																																						uc001dsi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3484-3486)CAG>CAT		amylo-1,6-glucosidase,							266.0	247.0	254.0					1																	100366315		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100366315G>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3486G>T	1.37:g.100366315G>T	ENSP00000294724:p.Gln1162His					AGL_uc001dsj.1_Missense_Mutation_p.Q1162H|AGL_uc001dsk.1_Missense_Mutation_p.Q1162H|AGL_uc001dsl.1_Missense_Mutation_p.Q1162H|AGL_uc001dsm.1_Missense_Mutation_p.Q1146H|AGL_uc001dsn.1_Missense_Mutation_p.Q1145H	p.Q1162H	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	26	3886	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1162			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3486G>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637718	0.47049	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.61	-3.38	0.04883	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.70596	0.3242	M	0.76838	2.35	0.51767	D	0.999935	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.74674	0.973;0.973;0.984	T	0.76181	-0.3053	10	0.66056	D	0.02	.	12.9308	0.58286	0.5518:0.0:0.4482:0.0	.	1145;1146;1162	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	H	1162;1162;1162;1162;1146;1146;1145	ENSP00000355106:Q1162H;ENSP00000359184:Q1162H;ENSP00000359182:Q1162H;ENSP00000294724:Q1162H;ENSP00000354971:Q1146H;ENSP00000359180:Q1146H;ENSP00000354635:Q1145H	ENSP00000294724:Q1162H	Q	+	3	2	AGL	100138903	1.000000	0.71417	0.944000	0.38274	0.549000	0.35272	0.666000	0.25097	-0.694000	0.05113	-0.781000	0.03364	CAG		PASS	0.468	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		8	380	8	380	---	---	---	---
RTCA	8634	broad.mit.edu	37	1	100746847	100746847	+	Intron	SNP	C	C	T	rs559168796		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:100746847C>T	ENST00000370128.4	+	9	968				MIR553_ENST00000385017.1_RNA|RTCA_ENST00000260563.4_Intron	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase						RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)										GAGAAAATCTCGCTGTTTTAG	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21386	0.0		0.0	False		,,,				2504	0.0					hsa-mir-553|MI0003558																			0					0															97.0	94.0	95.0					1																	100746847		1568	3582	5150	SO:0001627	intron_variant	693138							g.chr1:100746847C>T	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.800-3937C>T	1.37:g.100746847C>T						RTCD1_uc001dtd.2_Intron|RTCD1_uc001dtc.2_Intron										+								Q5VVL5|Q5VVL6|Q96E99	RNA	SNP	ENST00000370128.4	37	c.51C>T	CCDS768.1																																																																																				PASS	0.358	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2			11	108	11	108	---	---	---	---
S1PR1	1901	broad.mit.edu	37	1	101705208	101705208	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:101705208G>A	ENST00000305352.6	+	2	1043	c.668G>A	c.(667-669)aGa>aAa	p.R223K		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	223					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.R223K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CTGTACTGCAGAATCTACTCC	0.572																																						uc001dud.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(667-669)AGA>AAA		sphingosine-1-phosphate receptor 1							110.0	105.0	107.0					1																	101705208		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705208G>A	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.668G>A	1.37:g.101705208G>A	ENSP00000305416:p.Arg223Lys					S1PR1_uc009weg.2_Missense_Mutation_p.R223K	p.R223K	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	1182	+			223			Cytoplasmic (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.668G>A	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520562	0.85495	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.37915	1.17	5.28	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.050562	0.85682	D	0.000000	T	0.45377	0.1339	M	0.80422	2.495	0.52501	D	0.99995	P	0.39352	0.669	P	0.50162	0.633	T	0.51655	-0.8678	10	0.72032	D	0.01	.	14.712	0.69241	0.0:0.0:0.8544:0.1456	.	223	P21453	S1PR1_HUMAN	K	223	ENSP00000305416:R223K	ENSP00000305416:R223K	R	+	2	0	S1PR1	101477796	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.926000	0.87569	2.472000	0.83506	0.449000	0.29647	AGA		PASS	0.572	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		50	187	50	187	---	---	---	---
LRIF1	55791	broad.mit.edu	37	1	111494566	111494566	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:111494566C>T	ENST00000369763.4	-	2	1330	c.940G>A	c.(940-942)Gct>Act	p.A314T	LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.A314T(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATCTTTGAAGCCACATTATTT	0.378																																						uc001eaa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)GCT>ACT		receptor-interacting factor 1 isoform 1							56.0	55.0	55.0					1																	111494566		2203	4298	6501	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494566C>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.940G>A	1.37:g.111494566C>T	ENSP00000358778:p.Ala314Thr					C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.A314T	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	1196	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	314					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.940G>A	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143331	0.57044	.	.	ENSG00000121931	ENST00000369763	T	0.37915	1.17	5.78	4.86	0.63082	.	0.083023	0.52532	D	0.000079	T	0.33789	0.0875	L	0.32530	0.975	0.80722	D	1	D	0.61080	0.989	P	0.58820	0.846	T	0.27331	-1.0077	10	0.72032	D	0.01	-5.366	14.843	0.70240	0.0:0.8558:0.1442:0.0	.	314	Q5T3J3	LRIF1_HUMAN	T	314	ENSP00000358778:A314T	ENSP00000358778:A314T	A	-	1	0	LRIF1	111296089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.301000	0.51842	1.427000	0.47276	0.591000	0.81541	GCT		PASS	0.378	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		20	95	20	95	---	---	---	---
ADORA3	140	broad.mit.edu	37	1	112029246	112029246	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:112029246G>A	ENST00000369716.4	-	4	967	c.834C>T	c.(832-834)tgC>tgT	p.C278C	ADORA3_ENST00000369717.4_Silent_p.C197C	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.C278C(1)|p.C197C(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TGGGAGCCTTGCAGCTTCTGG	0.577																																						uc001ebf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(832-834)TGC>TGT		adenosine A3 receptor isoform 1	Adenosine(DB00640)|Aminophylline(DB01223)						102.0	92.0	96.0					1																	112029246		2203	4300	6503	SO:0001819	synonymous_variant	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112029246G>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.834C>T	1.37:g.112029246G>A						ADORA3_uc001ebg.3_Silent_p.C197C	p.C278C	NM_020683	NP_065734	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	4	1601	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	Error:Variant_position_missing_in_P33765_after_alignment					A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000369716.4	37	c.834C>T	CCDS838.1	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661840	0.14645	.	.	ENSG00000121933	ENST00000414219;ENST00000442484	.	.	.	4.61	1.62	0.23740	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25710	-1.0124	4	.	.	.	-14.5842	6.189	0.20513	0.3374:0.0:0.6626:0.0	.	.	.	.	V	138;91	.	.	A	-	2	0	ADORA3	111830769	0.711000	0.27906	0.885000	0.34714	0.170000	0.22686	0.631000	0.24568	0.544000	0.28883	0.561000	0.74099	GCA		PASS	0.577	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683		11	40	11	40	---	---	---	---
WNT2B	7482	broad.mit.edu	37	1	113059968	113059968	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:113059968G>C	ENST00000369684.4	+	4	1392	c.907G>C	c.(907-909)Gac>Cac	p.D303H	WNT2B_ENST00000256640.5_Missense_Mutation_p.D211H|WNT2B_ENST00000369686.5_Missense_Mutation_p.D284H|RP4-671G15.2_ENST00000608357.1_RNA	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	303					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.D303H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCTACTTTGACAACTCTCC	0.572																																						uc001ecb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(907-909)GAC>CAC		wingless-type MMTV integration site family,							53.0	51.0	52.0					1																	113059968		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113059968G>C	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.907G>C	1.37:g.113059968G>C	ENSP00000358698:p.Asp303His					WNT2B_uc001eca.2_Missense_Mutation_p.D284H|WNT2B_uc009wgg.2_Missense_Mutation_p.D211H	p.D303H	NM_024494	NP_078613	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1422	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	303					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.907G>C	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014029	0.93404	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.76709	-1.04;-1.04;-1.04	5.53	5.53	0.82687	.	0.043798	0.85682	D	0.000000	T	0.77136	0.4086	L	0.31065	0.9	0.58432	D	0.999999	P;P	0.52463	0.953;0.942	P;P	0.59761	0.863;0.785	T	0.79217	-0.1894	10	0.56958	D	0.05	.	19.0601	0.93090	0.0:0.0:1.0:0.0	.	303;284	Q93097;Q93097-2	WNT2B_HUMAN;.	H	211;284;303	ENSP00000256640:D211H;ENSP00000358700:D284H;ENSP00000358698:D303H	ENSP00000256640:D211H	D	+	1	0	WNT2B	112861491	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.599000	0.87857	0.555000	0.69702	GAC		PASS	0.572	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		3	79	3	79	---	---	---	---
PHTF1	10745	broad.mit.edu	37	1	114247382	114247382	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:114247382G>C	ENST00000369604.1	-	14	2192	c.1709C>G	c.(1708-1710)tCt>tGt	p.S570C	PHTF1_ENST00000393357.2_Missense_Mutation_p.S570C|PHTF1_ENST00000357783.2_Missense_Mutation_p.S570C|PHTF1_ENST00000369600.1_Missense_Mutation_p.S517C|PHTF1_ENST00000369596.2_Missense_Mutation_p.S517C|PHTF1_ENST00000369598.1_Missense_Mutation_p.S525C|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	570					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S570C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCCTGGCAGAAGTAATATG	0.313																																						uc009wgp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1708-1710)TCT>TGT		putative homeodomain transcription factor 1							73.0	83.0	80.0					1																	114247382		2202	4299	6501	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114247382G>C	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1709C>G	1.37:g.114247382G>C	ENSP00000358617:p.Ser570Cys					PHTF1_uc001edn.2_Missense_Mutation_p.S570C|PHTF1_uc001edm.2_Missense_Mutation_p.S327C	p.S570C	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	2161	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	570					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.1709C>G	CCDS861.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668365	0.88348	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78226	-0.2286	9	0.87932	D	0	-17.0661	19.6271	0.95682	0.0:0.0:1.0:0.0	.	570;570	Q9UMS5;Q9UMS5-2	PHTF1_HUMAN;.	C	525;570;517;525;517;570;570	.	ENSP00000350428:S570C	S	-	2	0	PHTF1	114048905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.645000	0.89757	0.591000	0.81541	TCT		PASS	0.313	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		17	132	17	132	---	---	---	---
FCGR1A	2209	broad.mit.edu	37	1	149760129	149760129	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:149760129G>A	ENST00000369168.4	+	4	569	c.515G>A	c.(514-516)gGa>gAa	p.G172E	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	172	Ig-like C2-type 2.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)	p.G172E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAGGCATGGGAAAGCATCGC	0.438																																						uc001esp.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)GGA>GAA		Fc fragment of IgG, high affinity Ia, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						141.0	124.0	130.0					1																	149760129		2203	4300	6503	SO:0001583	missense	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149760129G>A	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.515G>A	1.37:g.149760129G>A	ENSP00000358165:p.Gly172Glu					HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA|FCGR1A_uc009wlh.1_RNA	p.G172E	NM_000566	NP_000557	P12314	FCGR1_HUMAN			4	565	+	Breast(34;0.0124)|all_hematologic(923;0.127)		172			Ig-like C2-type 2.|Extracellular (Potential).		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	c.515G>A	CCDS933.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823544	0.50739	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.09445	2.98;2.98	4.0	3.08	0.35506	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.728029	0.12205	N	0.489914	T	0.08582	0.0213	M	0.79011	2.435	0.20926	N	0.999822	P	0.37352	0.591	P	0.50192	0.634	T	0.37244	-0.9714	10	0.07644	T	0.81	.	8.047	0.30555	0.1196:0.0:0.8804:0.0	.	172	P12314	FCGR1_HUMAN	E	80;172	ENSP00000394279:G80E;ENSP00000358165:G172E	ENSP00000358165:G172E	G	+	2	0	FCGR1A	148026753	0.032000	0.19561	0.032000	0.17829	0.755000	0.42902	1.743000	0.38258	0.970000	0.38263	0.514000	0.50259	GGA		PASS	0.438	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		5	238	5	238	---	---	---	---
HIST2H2BE	8349	broad.mit.edu	37	1	149858143	149858143	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:149858143C>T	ENST00000369155.2	-	1	89	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	16					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K16K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGACGGCTTTCTTGGAGCCCT	0.532																																						uc001etc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(46-48)AAG>AAA		histone cluster 2, H2be							87.0	89.0	89.0					1																	149858143		2203	4300	6503	SO:0001819	synonymous_variant	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149858143C>T	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.48G>A	1.37:g.149858143C>T						HIST2H2AC_uc001etd.2_5'Flank	p.K16K	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	90	-	Breast(34;0.0124)|all_hematologic(923;0.127)		16					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Silent	SNP	ENST00000369155.2	37	c.48G>A	CCDS936.1																																																																																				PASS	0.532	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		65	311	65	311	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152191617	152191617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:152191617G>A	ENST00000368801.2	-	3	2563	c.2488C>T	c.(2488-2490)Cag>Tag	p.Q830*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	830					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Q830*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAACCATGCTGACTATAGCCC	0.547																																						uc001ezt.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2488-2490)CAG>TAG		hornerin							112.0	113.0	113.0					1																	152191617		2203	4300	6503	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191617G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2488C>T	1.37:g.152191617G>A	ENSP00000357791:p.Gln830*						p.Q830*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2564	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		830			8.		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.2488C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453695	0.96223	.	.	ENSG00000197915	ENST00000368801	.	.	.	2.46	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.4798	0.33036	0.0:0.0:1.0:0.0	.	.	.	.	X	830	.	ENSP00000357791:Q830X	Q	-	1	0	HRNR	150458241	0.149000	0.22717	0.005000	0.12908	0.009000	0.06853	1.612000	0.36889	1.364000	0.46038	0.456000	0.33151	CAG		PASS	0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		31	123	31	123	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152275409	152275409	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:152275409C>G	ENST00000368799.1	-	3	11988	c.11953G>C	c.(11953-11955)Gat>Cat	p.D3985H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3985					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D3985H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCATAATCATAATCTGCA	0.398									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11953-11955)GAT>CAT		filaggrin							137.0	121.0	127.0					1																	152275409		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275409C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11953G>C	1.37:g.152275409C>G	ENSP00000357789:p.Asp3985His						p.D3985H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11989	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3985					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11953G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.350	0.830618	0.16820	.	.	ENSG00000143631	ENST00000368799	T	0.01272	5.07	4.27	1.26	0.21427	.	.	.	.	.	T	0.01061	0.0035	L	0.36672	1.1	0.09310	N	1	D	0.65815	0.995	P	0.61328	0.887	T	0.51387	-0.8712	9	0.45353	T	0.12	.	3.4832	0.07610	0.2002:0.5844:0.0:0.2154	.	3985	P20930	FILA_HUMAN	H	3985	ENSP00000357789:D3985H	ENSP00000357789:D3985H	D	-	1	0	FLG	150542033	0.007000	0.16637	0.001000	0.08648	0.299000	0.27559	0.192000	0.17096	0.151000	0.19162	0.650000	0.86243	GAT		PASS	0.398	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		48	215	48	215	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281208	152281208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:152281208C>A	ENST00000368799.1	-	3	6189	c.6154G>T	c.(6154-6156)Gaa>Taa	p.E2052*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2052	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E2052*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGAGTCTTCTGAATGTCCC	0.562									Ichthyosis																													uc001ezu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6154-6156)GAA>TAA		filaggrin							465.0	387.0	413.0					1																	152281208		2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281208C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6154G>T	1.37:g.152281208C>A	ENSP00000357789:p.Glu2052*						p.E2052*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6190	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2052			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.6154G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	43	10.368957	0.99392	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.35	1.37	0.22104	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-6.5198	9.464	0.38802	0.0:0.5756:0.4244:0.0	.	.	.	.	X	2052	.	ENSP00000357789:E2052X	E	-	1	0	FLG	150547832	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.524000	0.06222	0.220000	0.20860	0.485000	0.47835	GAA		PASS	0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		128	791	128	791	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154042813	154042813	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:154042813G>A	ENST00000368559.3	-	17	2561	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	NUP210L_ENST00000271854.3_Silent_p.F830F	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	830					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.F830F(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATAATCTTCGAAATGGGCTA	0.378																																						uc001fdw.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(2488-2490)TTC>TTT		nucleoporin 210kDa-like isoform 1							150.0	137.0	141.0					1																	154042813		1903	4107	6010	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154042813G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2490C>T	1.37:g.154042813G>A						NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Silent_p.F830F	p.F830F	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		17	2562	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		830					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.2490C>T	CCDS41399.1																																																																																				PASS	0.378	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		34	162	34	162	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156507057	156507057	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:156507057C>T	ENST00000361170.2	-	27	3348	c.3338G>A	c.(3337-3339)aGa>aAa	p.R1113K	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1113	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.R1113K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCCAGTCGTCTCTGGACCTC	0.557																																						uc001fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(3337-3339)AGA>AAA		IQ motif containing GTPase activating protein 3							134.0	110.0	118.0					1																	156507057		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156507057C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.3338G>A	1.37:g.156507057C>T	ENSP00000354451:p.Arg1113Lys						p.R1113K	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			27	3413	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1113			Ras-GAP.		Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.3338G>A	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231290	0.39399	.	.	ENSG00000183856	ENST00000361170	T	0.81415	-1.49	4.93	4.93	0.64822	Rho GTPase activation protein (1);Ras GTPase-activating protein (3);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	L	0.31664	0.95	0.41718	D	0.989494	D	0.63046	0.992	D	0.76071	0.987	T	0.72168	-0.4372	10	0.09590	T	0.72	-12.3234	16.8796	0.86060	0.0:1.0:0.0:0.0	.	1113	Q86VI3	IQGA3_HUMAN	K	1113	ENSP00000354451:R1113K	ENSP00000354451:R1113K	R	-	2	0	IQGAP3	154773681	0.083000	0.21467	0.992000	0.48379	0.941000	0.58515	0.552000	0.23376	2.566000	0.86566	0.561000	0.74099	AGA		PASS	0.557	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		7	121	7	121	---	---	---	---
DNM3	26052	broad.mit.edu	37	1	171956860	171956860	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:171956860G>T	ENST00000355305.5	+	3	457	c.300G>T	c.(298-300)gaG>gaT	p.E100D	DNM3_ENST00000520906.1_Missense_Mutation_p.E100D|DNM3_ENST00000367731.1_Missense_Mutation_p.E100D|DNM3_ENST00000367733.2_Missense_Mutation_p.E100D|DNM3_ENST00000358155.4_Missense_Mutation_p.E100D			Q9UQ16	DYN3_HUMAN	dynamin 3	100	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E100D(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTCGCCTTGAGATTGAAGCAG	0.343																																						uc001gie.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(298-300)GAG>GAT		dynamin 3 isoform a							138.0	152.0	148.0					1																	171956860		1843	4089	5932	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171956860G>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.300G>T	1.37:g.171956860G>T	ENSP00000347457:p.Glu100Asp					DNM3_uc001gid.3_Missense_Mutation_p.E100D|DNM3_uc009wwb.2_Missense_Mutation_p.E100D|DNM3_uc001gif.2_Missense_Mutation_p.E100D	p.E100D	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			3	476	+			100					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.300G>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.022297	0.75275	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32	5.07	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	M	0.90922	3.16	0.49483	D	0.999793	D;D;D;D	0.64830	0.957;0.994;0.989;0.979	D;D;D;P	0.64410	0.925;0.924;0.924;0.9	D	0.98021	1.0371	10	0.87932	D	0	.	7.0201	0.24910	0.2663:0.0:0.7337:0.0	.	100;100;100;100	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	D	100	ENSP00000350876:E100D;ENSP00000356707:E100D;ENSP00000347457:E100D;ENSP00000356705:E100D;ENSP00000429701:E100D	ENSP00000347457:E100D	E	+	3	2	DNM3	170223483	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.428000	0.34892	1.132000	0.42129	0.591000	0.81541	GAG		PASS	0.343	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		19	276	19	276	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564447	176564447	+	Silent	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:176564447C>A	ENST00000367662.3	+	3	2871	c.1707C>A	c.(1705-1707)gtC>gtA	p.V569V	PAPPA2_ENST00000367661.3_Silent_p.V569V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	569	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V569V(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCTGAGCGTCCACCAGGTCC	0.572																																						uc001gkz.2																			4	Substitution - coding silent(4)		lung(4)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1705-1707)GTC>GTA		pappalysin 2 isoform 1							84.0	88.0	87.0					1																	176564447		2141	4242	6383	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564447C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1707C>A	1.37:g.176564447C>A						PAPPA2_uc001gky.1_Silent_p.V569V|PAPPA2_uc009www.2_RNA	p.V569V	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2871	+			569			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.1707C>A	CCDS41438.1																																																																																				PASS	0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			19	111	19	111	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186157078	186157078	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:186157078G>C	ENST00000271588.4	+	106	16707	c.16478G>C	c.(16477-16479)aGa>aCa	p.R5493T	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5376T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5493					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R5493T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCAACATGAGAGGAAGCTAC	0.502																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(16477-16479)AGA>ACA		hemicentin 1 precursor							347.0	248.0	282.0					1																	186157078		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186157078G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16478G>C	1.37:g.186157078G>C	ENSP00000271588:p.Arg5493Thr					HMCN1_uc001grs.1_Missense_Mutation_p.R945T	p.R5493T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			106	16707	+			5493					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16478G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822964	0.90873	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.87103	-2.21;-2.21;-2.21	5.71	5.71	0.89125	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.74647	2.275	0.36690	D	0.879506	D	0.76494	0.999	D	0.80764	0.994	D	0.94583	0.7781	10	0.56958	D	0.05	.	19.8772	0.96880	0.0:0.0:1.0:0.0	.	5493	Q96RW7	HMCN1_HUMAN	T	5493;5376;168	ENSP00000271588:R5493T;ENSP00000356462:R5376T;ENSP00000406205:R168T	ENSP00000271588:R5493T	R	+	2	0	HMCN1	184423701	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.807000	0.99171	2.686000	0.91538	0.650000	0.86243	AGA		PASS	0.502	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		38	248	38	248	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067726	190067726	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:190067726G>T	ENST00000367462.3	-	8	1954	c.1723C>A	c.(1723-1725)Ccc>Acc	p.P575T	BRINP3_ENST00000534846.1_Missense_Mutation_p.P473T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	575					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.P575T(1)									CCTCCGAAGGGATTGACATAA	0.468																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1723-1725)CCC>ACC		family with sequence similarity 5, member C							84.0	89.0	87.0					1																	190067726		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067726G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1723C>A	1.37:g.190067726G>T	ENSP00000356432:p.Pro575Thr					FAM5C_uc010pot.1_Missense_Mutation_p.P473T	p.P575T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1955	-	Prostate(682;0.198)		575					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1723C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132086	0.56828	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.43294	1.17;0.95	5.64	5.64	0.86602	.	0.055558	0.64402	D	0.000001	T	0.66157	0.2761	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.981	T	0.68853	-0.5299	10	0.87932	D	0	.	17.1831	0.86859	0.0:0.0:1.0:0.0	.	473;575	B7Z260;Q76B58	.;FAM5C_HUMAN	T	575;473	ENSP00000356432:P575T;ENSP00000438022:P473T	ENSP00000356432:P575T	P	-	1	0	FAM5C	188334349	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	9.760000	0.98935	2.653000	0.90120	0.591000	0.81541	CCC		PASS	0.468	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		40	336	40	336	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200972830	200972830	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:200972830G>A	ENST00000422435.2	-	8	1412	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	KIF21B_ENST00000461742.2_Missense_Mutation_p.R366W|KIF21B_ENST00000332129.2_Missense_Mutation_p.R366W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R366W	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	366	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R366W(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTGCGGGCCCGATTGGCATAT	0.552																																						uc001gvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(1096-1098)CGG>TGG		kinesin family member 21B							180.0	145.0	157.0					1																	200972830		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200972830G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1096C>T	1.37:g.200972830G>A	ENSP00000411831:p.Arg366Trp					KIF21B_uc001gvr.1_Missense_Mutation_p.R366W|KIF21B_uc009wzl.1_Missense_Mutation_p.R366W|KIF21B_uc010ppn.1_Missense_Mutation_p.R366W|KIF21B_uc001gvt.1_Missense_Mutation_p.R224W	p.R366W	NM_017596	NP_060066	O75037	KI21B_HUMAN			8	1413	-			366					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1096C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	g	19.58	3.854315	0.71719	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.46	4.53	0.55603	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.92734	0.7690	H	0.98314	4.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.971;0.971;0.998;0.95	D	0.95443	0.8527	10	0.87932	D	0	.	15.5669	0.76300	0.0:0.0:0.8608:0.1392	.	366;366;366;366	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	W	366	ENSP00000328494:R366W;ENSP00000353724:R366W;ENSP00000433808:R366W;ENSP00000411831:R366W	ENSP00000328494:R366W	R	-	1	2	KIF21B	199239453	1.000000	0.71417	0.967000	0.41034	0.434000	0.31775	9.821000	0.99360	1.290000	0.44636	-0.194000	0.12790	CGG		PASS	0.552	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		30	221	30	221	---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206623739	206623739	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:206623739C>G	ENST00000414007.1	+	15	1688	c.1688C>G	c.(1687-1689)cCt>cGt	p.P563R	SRGAP2_ENST00000419187.2_Missense_Mutation_p.P8R|SRGAP2_ENST00000471256.1_3'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	703	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.S616R(1)|p.P563R(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGTGATAGCCCTCATGGAGAG	0.552																																						uc001hdy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1846-1848)CCT>CGT		SLIT-ROBO Rho GTPase activating protein 2							80.0	80.0	80.0					1																	206623739		2069	4214	6283	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206623739C>G	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1688C>G	1.37:g.206623739C>G	ENSP00000390898:p.Pro563Arg					SRGAP2_uc010prt.1_Missense_Mutation_p.P539R|SRGAP2_uc001hdx.2_Missense_Mutation_p.P616R|SRGAP2_uc010pru.1_Missense_Mutation_p.P539R|SRGAP2_uc010prv.1_Missense_Mutation_p.P540R	p.P616R	NM_015326	NP_056141	O75044	FNBP2_HUMAN			16	2180	+	Breast(84;0.137)		703						Missense_Mutation	SNP	ENST00000414007.1	37	c.1847C>G		.	.	.	.	.	.	.	.	.	.	C	19.82	3.897833	0.72639	.	.	ENSG00000163486	ENST00000414359;ENST00000414007;ENST00000419187;ENST00000439126	T;T;T	0.44482	2.97;0.92;2.67	5.45	5.45	0.79879	Src homology-3 domain (1);	0.107776	0.64402	D	0.000004	T	0.50034	0.1592	.	.	.	0.80722	D	1.000000	P;P	0.50272	0.933;0.69	P;P	0.48030	0.564;0.536	T	0.56111	-0.8033	8	0.46703	T	0.11	.	18.2897	0.90126	0.0:1.0:0.0:0.0	.	550;703	B4DDU0;O75044	.;FNBP2_HUMAN	R	616;563;8;317	ENSP00000390898:P563R;ENSP00000397990:P8R;ENSP00000403036:P317R	ENSP00000390898:P563R	P	+	2	0	SRGAP2	204690362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.492000	0.73654	2.552000	0.86080	0.557000	0.71058	CCT		PASS	0.552	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		6	93	6	93	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216061896	216061896	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:216061896G>A	ENST00000307340.3	-	41	8481	c.8095C>T	c.(8095-8097)Cgg>Tgg	p.R2699W	USH2A_ENST00000366943.2_Missense_Mutation_p.R2699W|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2699	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R2699W(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCAGTACCCGATATTCATAT	0.493										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8095-8097)CGG>TGG		usherin isoform B							90.0	89.0	89.0					1																	216061896		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216061896G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8095C>T	1.37:g.216061896G>A	ENSP00000305941:p.Arg2699Trp	HNSCC(13;0.011)					p.R2699W	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8482	-			2699			Extracellular (Potential).|Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8095C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633193	0.47049	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.60920	0.15;0.15	5.73	3.85	0.44370	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38272	N	0.001747	T	0.68403	0.2997	L	0.60455	1.87	0.47308	D	0.999382	D	0.89917	1.0	D	0.97110	1.0	T	0.66988	-0.5784	10	0.54805	T	0.06	.	8.0986	0.30844	0.0754:0.0:0.5011:0.4234	.	2699	O75445	USH2A_HUMAN	W	2699	ENSP00000305941:R2699W;ENSP00000355910:R2699W	ENSP00000305941:R2699W	R	-	1	2	USH2A	214128519	1.000000	0.71417	0.077000	0.20336	0.266000	0.26442	1.366000	0.34193	0.754000	0.32968	0.655000	0.94253	CGG		PASS	0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	110	9	110	---	---	---	---
GPATCH2	55105	broad.mit.edu	37	1	217784282	217784282	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:217784282C>G	ENST00000366935.3	-	4	1077	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	GPATCH2_ENST00000366934.3_Missense_Mutation_p.E323Q	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	323					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.E323Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AAGATACTTTCAAAGACAGGA	0.453																																						uc001hlf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(967-969)GAA>CAA		G patch domain containing 2							150.0	135.0	140.0					1																	217784282		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217784282C>G	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.967G>C	1.37:g.217784282C>G	ENSP00000355902:p.Glu323Gln					GPATCH2_uc001hlg.3_Missense_Mutation_p.E323Q	p.E323Q	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	4	1063	-			323					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.967G>C	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571152	0.28003	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.41758	1.62;0.99	5.66	4.7	0.59300	.	0.231666	0.51477	D	0.000093	T	0.28067	0.0692	N	0.17312	0.475	0.36288	D	0.85623	B;B	0.24618	0.107;0.065	B;B	0.18871	0.023;0.01	T	0.16335	-1.0406	10	0.16420	T	0.52	-18.3653	18.0641	0.89385	0.0:0.8095:0.1905:0.0	.	323;323	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	Q	323	ENSP00000355902:E323Q;ENSP00000355901:E323Q	ENSP00000355901:E323Q	E	-	1	0	GPATCH2	215850905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.461000	0.53035	2.649000	0.89929	0.591000	0.81541	GAA		PASS	0.453	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		22	179	22	179	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228444513	228444513	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:228444513G>C	ENST00000422127.1	+	15	4515	c.4471G>C	c.(4471-4473)Gag>Cag	p.E1491Q	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E55Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.E1583Q|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1491Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1491	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E1491Q(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTGCGCATGGAGGCTGTGGG	0.672																																						uc009xez.1																			4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(4471-4473)GAG>CAG		obscurin, cytoskeletal calmodulin and							52.0	56.0	55.0					1																	228444513		2085	4201	6286	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444513G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4471G>C	1.37:g.228444513G>C	ENSP00000409493:p.Glu1491Gln					OBSCN_uc001hsn.2_Missense_Mutation_p.E1491Q	p.E1491Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			15	4515	+		Prostate(94;0.0405)	1491			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4471G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	15.01	2.705551	0.48412	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.67345	-0.26;-0.26;-0.26	4.6	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.080947	0.49305	D	0.000151	T	0.77974	0.4211	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.926;0.999	T	0.73799	-0.3869	10	0.13470	T	0.59	.	17.3927	0.87436	0.0:0.0:1.0:0.0	.	1491;1491	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1491;1491;55	ENSP00000284548:E1491Q;ENSP00000409493:E1491Q;ENSP00000352613:E55Q	ENSP00000284548:E1491Q	E	+	1	0	OBSCN	226511136	1.000000	0.71417	0.999000	0.59377	0.029000	0.11900	8.817000	0.91985	2.099000	0.63709	0.491000	0.48974	GAG		PASS	0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		22	174	22	174	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228475624	228475624	+	Silent	SNP	C	C	T	rs369584483	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:228475624C>T	ENST00000422127.1	+	36	9818	c.9774C>T	c.(9772-9774)ttC>ttT	p.F3258F	OBSCN_ENST00000359599.6_Silent_p.F2105F|OBSCN_ENST00000570156.2_Silent_p.F3687F|OBSCN_ENST00000366709.4_Silent_p.F377F|OBSCN_ENST00000366707.4_Silent_p.F377F|OBSCN_ENST00000284548.11_Silent_p.F3258F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3258	Ig-like 32.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.F3541F(1)|p.F3442F(1)|p.F3258F(1)|p.F3312F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CATGCTCCTTCGGGGACCAGA	0.617													C|||	5	0.000998403	0.003	0.0014	5008	,	,		20143	0.0		0.0	False		,,,				2504	0.0					uc009xez.1																			4	Substitution - coding silent(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(9772-9774)TTC>TTT		obscurin, cytoskeletal calmodulin and		C	,	12,4204		0,12,2096	61.0	69.0	66.0		9774,9774	-1.4	0.5	1		66	0,8454		0,0,4227	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,12,6323	TT,TC,CC		0.0,0.2846,0.0947	,	3258/7969,3258/6621	228475624	12,12658	2108	4227	6335	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228475624C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9774C>T	1.37:g.228475624C>T						OBSCN_uc001hsn.2_Silent_p.F3258F|OBSCN_uc001hsq.1_Silent_p.F514F	p.F3258F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			36	9818	+		Prostate(94;0.0405)	3258			Ig-like 32.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.9774C>T	CCDS58065.1																																																																																				PASS	0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	111	11	111	---	---	---	---
TAF5L	27097	broad.mit.edu	37	1	229730377	229730377	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:229730377G>A	ENST00000366676.1	-	4	1436	c.1437C>T	c.(1435-1437)aaC>aaT	p.N479N	TAF5L_ENST00000258281.2_Silent_p.N479N			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	479					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.N479N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTACTTACCGTTGGGAGAAA	0.587																																						uc001htq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1435-1437)AAC>AAT		PCAF associated factor 65 beta isoform a							74.0	78.0	76.0					1																	229730377		2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730377G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1437C>T	1.37:g.229730377G>A							p.N479N	NM_014409	NP_055224	O75529	TAF5L_HUMAN			5	1603	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	479			WD 5.		Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.1437C>T	CCDS1581.1																																																																																				PASS	0.587	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		27	338	27	338	---	---	---	---
C1orf198	84886	broad.mit.edu	37	1	230979318	230979318	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:230979318C>A	ENST00000366663.5	-	3	849	c.709G>T	c.(709-711)Gac>Tac	p.D237Y	C1orf198_ENST00000523410.1_Missense_Mutation_p.D107Y|C1orf198_ENST00000427697.2_Missense_Mutation_p.D20Y|C1orf198_ENST00000470540.1_Missense_Mutation_p.D199Y	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	237						cytoplasm (GO:0005737)		p.D237Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCCTCCCTGTCCTTCGGGGCA	0.632																																						uc001hub.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)GAC>TAC		hypothetical protein LOC84886 isoform 1							55.0	55.0	55.0					1																	230979318		2203	4300	6503	SO:0001583	missense	84886							g.chr1:230979318C>A	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.709G>T	1.37:g.230979318C>A	ENSP00000355623:p.Asp237Tyr					C1orf198_uc009xfh.1_Missense_Mutation_p.D107Y|C1orf198_uc001huc.1_Missense_Mutation_p.D20Y|C1orf198_uc001hud.1_Missense_Mutation_p.D199Y	p.D237Y	NM_032800	NP_116189	Q9H425	CA198_HUMAN			3	753	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	237					A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	c.709G>T	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421421	0.83559	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000427697;ENST00000523410	T;T;T;T	0.37752	1.22;1.23;1.18;1.21	4.46	4.46	0.54185	.	0.116690	0.56097	D	0.000030	T	0.49064	0.1535	L	0.47716	1.5	0.49051	D	0.999742	D	0.65815	0.995	P	0.57548	0.823	T	0.53746	-0.8395	10	0.66056	D	0.02	-18.1452	17.1164	0.86690	0.0:1.0:0.0:0.0	.	237	Q9H425	CA198_HUMAN	Y	237;199;20;107	ENSP00000355623:D237Y;ENSP00000428172:D199Y;ENSP00000411384:D20Y;ENSP00000430967:D107Y	ENSP00000355623:D237Y	D	-	1	0	C1orf198	229045941	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	4.483000	0.60264	2.017000	0.59298	0.462000	0.41574	GAC		PASS	0.632	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		18	146	18	146	---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233394590	233394590	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:233394590C>T	ENST00000258229.9	-	5	1252	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	340						integral component of membrane (GO:0016021)		p.D340N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGGGCAGGTCCCCCTGGCAG	0.572																																						uc001hvl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1018-1020)GAC>AAC		pecanex-like 2							86.0	89.0	88.0					1																	233394590		2056	4203	6259	SO:0001583	missense	80003					integral to membrane		g.chr1:233394590C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1018G>A	1.37:g.233394590C>T	ENSP00000258229:p.Asp340Asn					PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	p.D340N	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			5	1253	-		all_cancers(173;0.0347)|Prostate(94;0.137)	340					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1018G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585941	0.46110	.	.	ENSG00000135749	ENST00000258229	T	0.62788	-0.0	4.52	2.59	0.31030	.	.	.	.	.	T	0.47414	0.1444	N	0.24115	0.695	0.22412	N	0.999123	B	0.30482	0.281	B	0.24848	0.056	T	0.34551	-0.9824	9	0.49607	T	0.09	.	13.3003	0.60321	0.0:0.6964:0.3036:0.0	.	340	A6NKB5	PCX2_HUMAN	N	340	ENSP00000258229:D340N	ENSP00000258229:D340N	D	-	1	0	PCNXL2	231461213	0.029000	0.19370	0.012000	0.15200	0.245000	0.25701	1.678000	0.37586	0.604000	0.29930	-0.176000	0.13171	GAC		PASS	0.572	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		28	237	28	237	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235383152	235383152	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:235383152G>A	ENST00000264183.3	-	16	2036	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	ARID4B_ENST00000349213.3_Silent_p.S513S|ARID4B_ENST00000366603.2_Silent_p.S513S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	513	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S513S(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTATGTTGAGGGATTCATCTA	0.343																																						uc001hwq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(1537-1539)TCC>TCT		AT rich interactive domain 4B isoform 1							218.0	202.0	207.0					1																	235383152		2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235383152G>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1539C>T	1.37:g.235383152G>A						ARID4B_uc001hwr.2_Silent_p.S513S|ARID4B_uc001hws.3_Silent_p.S513S|ARID4B_uc001hwt.3_Silent_p.S194S	p.S513S	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		16	2037	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	513			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.1539C>T	CCDS31061.1																																																																																				PASS	0.343	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		8	230	8	230	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235937219	235937219	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:235937219C>G	ENST00000389794.3	-	19	5881	c.5707G>C	c.(5707-5709)Gac>Cac	p.D1903H	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.D1903H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1903					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.D1903H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCATTAGAGTCTACATCCAAC	0.328																																						uc001hxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(5707-5709)GAC>CAC		lysosomal trafficking regulator							113.0	110.0	111.0					1																	235937219		2202	4299	6501	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235937219C>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5707G>C	1.37:g.235937219C>G	ENSP00000374444:p.Asp1903His					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.D1903H	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		19	5882	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1903					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.5707G>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794406	0.70452	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61742	0.08;0.08	5.32	4.4	0.53042	.	0.265640	0.44285	D	0.000476	T	0.53029	0.1771	L	0.44542	1.39	0.80722	D	1	P	0.43662	0.814	B	0.43052	0.406	T	0.60250	-0.7300	10	0.87932	D	0	.	13.3667	0.60689	0.0:0.9243:0.0:0.0757	.	1903	Q99698	LYST_HUMAN	H	1903	ENSP00000374444:D1903H;ENSP00000374443:D1903H	ENSP00000374443:D1903H	D	-	1	0	LYST	234003842	0.966000	0.33281	0.997000	0.53966	0.837000	0.47467	2.304000	0.43655	2.482000	0.83794	0.585000	0.79938	GAC		PASS	0.328	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			12	138	12	138	---	---	---	---
ERO1LB	56605	broad.mit.edu	37	1	236399131	236399131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:236399131G>A	ENST00000354619.5	-	8	832	c.631C>T	c.(631-633)Cga>Tga	p.R211*		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	211					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.R211*(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TAAACAGATCGAGGCCTGAAA	0.338																																						uc001hxt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(631-633)CGA>TGA		endoplasmic reticulum oxidoreductin 1-Lbeta							66.0	69.0	68.0					1																	236399131		2202	4300	6502	SO:0001587	stop_gained	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236399131G>A	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.631C>T	1.37:g.236399131G>A	ENSP00000346635:p.Arg211*						p.R211*	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		8	887	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	211					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Nonsense_Mutation	SNP	ENST00000354619.5	37	c.631C>T	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	G	37	6.297183	0.97453	.	.	ENSG00000086619	ENST00000354619	.	.	.	5.88	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-11.014	16.3666	0.83331	0.0:0.0:0.8669:0.1331	.	.	.	.	X	211	.	ENSP00000346635:R211X	R	-	1	2	ERO1LB	234465754	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.786000	0.55431	1.473000	0.48159	0.557000	0.71058	CGA		PASS	0.338	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		17	116	17	116	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236727888	236727888	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:236727888C>G	ENST00000366582.3	-	32	4623	c.4509G>C	c.(4507-4509)gaG>gaC	p.E1503D	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1422D	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1503					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.E1503D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TAGTGTGAGTCTCTACATTAA	0.363																																						uc001hyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4507-4509)GAG>GAC		protein BAP28							129.0	129.0	129.0					1																	236727888		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236727888C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4509G>C	1.37:g.236727888C>G	ENSP00000355541:p.Glu1503Asp					HEATR1_uc009xgh.1_Missense_Mutation_p.E665D	p.E1503D	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		32	4634	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1503					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.4509G>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	1.529	-0.544750	0.04024	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.32753	1.44;1.44	4.9	0.855	0.19013	Armadillo-type fold (1);	0.095280	0.64402	N	0.000001	T	0.11196	0.0273	N	0.04746	-0.17	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13361	-1.0512	10	0.16896	T	0.51	.	5.5001	0.16825	0.349:0.3727:0.2783:0.0	.	1422;1503	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	D	1503;1422	ENSP00000355541:E1503D;ENSP00000355540:E1422D	ENSP00000355540:E1422D	E	-	3	2	HEATR1	234794511	0.749000	0.28305	0.195000	0.23364	0.302000	0.27658	0.268000	0.18571	0.326000	0.23384	-0.165000	0.13383	GAG		PASS	0.363	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		22	168	22	168	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237604775	237604775	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:237604775C>A	ENST00000366574.2	+	13	1479	c.1162C>A	c.(1162-1164)Caa>Aaa	p.Q388K	RYR2_ENST00000542537.1_Missense_Mutation_p.Q372K|RYR2_ENST00000360064.6_Missense_Mutation_p.Q386K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	388	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Q386K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATCTATACAACGTAAGGT	0.343																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1162-1164)CAA>AAA		cardiac muscle ryanodine receptor							123.0	113.0	116.0					1																	237604775		1846	4106	5952	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604775C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1162C>A	1.37:g.237604775C>A	ENSP00000355533:p.Gln388Lys						p.Q388K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1282	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	388			Cytoplasmic (By similarity).|MIR 5.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1162C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	4.425	0.078609	0.08533	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87179	-2.22;-2.22;-2.22	5.34	5.34	0.76211	MIR motif (1);MIR (2);	0.000000	0.64402	D	0.000009	T	0.64778	0.2629	N	0.00985	-1.075	0.80722	D	1	B	0.21381	0.055	B	0.20955	0.032	T	0.66893	-0.5808	10	0.06099	T	0.92	.	14.2634	0.66099	0.149:0.851:0.0:0.0	.	388	Q92736	RYR2_HUMAN	K	388;386;372	ENSP00000355533:Q388K;ENSP00000353174:Q386K;ENSP00000443798:Q372K	ENSP00000353174:Q386K	Q	+	1	0	RYR2	235671398	1.000000	0.71417	0.991000	0.47740	0.851000	0.48451	2.968000	0.49224	2.645000	0.89757	0.655000	0.94253	CAA		PASS	0.343	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	149	8	149	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237868571	237868571	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:237868571T>C	ENST00000366574.2	+	67	9825	c.9508T>C	c.(9508-9510)Ttt>Ctt	p.F3170L	RYR2_ENST00000542537.1_Missense_Mutation_p.F3154L|RYR2_ENST00000360064.6_Missense_Mutation_p.F3168L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3170					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.F3168L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCTGTAGCATTTTTGGAAAC	0.398																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(9508-9510)TTT>CTT		cardiac muscle ryanodine receptor							119.0	109.0	112.0					1																	237868571		1875	4125	6000	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237868571T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9508T>C	1.37:g.237868571T>C	ENSP00000355533:p.Phe3170Leu					RYR2_uc010pxz.1_Missense_Mutation_p.F125L	p.F3170L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		67	9628	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3170			Helical; Name=M''; (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9508T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752902	0.89753	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	D;D;D	0.93811	-3.29;-3.29;-3.29	4.51	4.51	0.55191	.	0.000000	0.64402	U	0.000008	D	0.95424	0.8514	M	0.88704	2.975	0.80722	D	1	D	0.54047	0.964	P	0.50162	0.633	D	0.96134	0.9095	10	0.87932	D	0	.	14.1985	0.65686	0.0:0.0:0.0:1.0	.	3170	Q92736	RYR2_HUMAN	L	3170;3168;3154;125;165	ENSP00000355533:F3170L;ENSP00000353174:F3168L;ENSP00000443798:F3154L	ENSP00000353174:F3168L	F	+	1	0	RYR2	235935194	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	7.605000	0.82844	1.813000	0.52934	0.529000	0.55759	TTT		PASS	0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		17	13	17	13	---	---	---	---
HNRNPU	3192	broad.mit.edu	37	1	245027180	245027180	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:245027180C>T	ENST00000283179.9	-	1	593	c.430G>A	c.(430-432)Gag>Aag	p.E144K	HNRNPU_ENST00000444376.2_Missense_Mutation_p.E144K|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	144	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E144K(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TCCCCGAGCTCATCTTCCCCT	0.711																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(430-432)GAG>AAG		heterogeneous nuclear ribonucleoprotein U							26.0	28.0	27.0					1																	245027180		2202	4295	6497	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245027180C>T	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.430G>A	1.37:g.245027180C>T	ENSP00000283179:p.Glu144Lys					HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.E144K|HNRNPU_uc001ibb.1_Intron	p.E144K	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		1	648	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		144			Asp/Glu-rich (acidic).		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.430G>A	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	c	18.08	3.544310	0.65198	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.46451	0.89;0.87	3.82	3.82	0.43975	.	0.335683	0.30329	U	0.009873	T	0.39759	0.1090	L	0.39898	1.24	0.44825	D	0.997836	P;P	0.52061	0.95;0.917	B;P	0.48704	0.389;0.587	T	0.11060	-1.0603	10	0.21014	T	0.42	-11.3319	13.2482	0.60036	0.0:1.0:0.0:0.0	.	144;144	Q00839-2;Q00839	.;HNRPU_HUMAN	K	144;144;69	ENSP00000393151:E144K;ENSP00000283179:E144K	ENSP00000283179:E144K	E	-	1	0	HNRNPU	243093803	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	5.138000	0.64795	1.951000	0.56629	0.457000	0.33378	GAG		PASS	0.711	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		15	121	15	121	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247419770	247419770	+	IGR	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:247419770A>G								RP11-488L18.8 (14645 upstream) : Y_RNA (38366 downstream)																							GGGCCTCTCCATCTGCACCCC	0.473																																						uc010pyu.1																			0					0						c.(397-399)ATC>GTC		vomeronasal 1 receptor 5							102.0	101.0	101.0					1																	247419770		2033	4184	6217	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419770A>G																													1.37:g.247419770A>G							p.I133V	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	397	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	133			Helical; Name=4; (Potential).			Missense_Mutation	SNP		37	c.397A>G																																																																																				0	PASS	0.473									82	140	82	140	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769106	247769106	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:247769106C>T	ENST00000320002.2	+	1	251	c.219C>T	c.(217-219)ttC>ttT	p.F73F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F73F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACATCTGCTTCACTACTAGCC	0.443																																						uc010pyz.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(217-219)TTC>TTT		olfactory receptor, family 2, subfamily G,							280.0	262.0	268.0					1																	247769106		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769106C>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.219C>T	1.37:g.247769106C>T							p.F73F	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	219	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		73			Helical; Name=2; (Potential).		B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.219C>T	CCDS31093.1																																																																																				PASS	0.443	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			75	619	75	619	---	---	---	---
OR13G1	441933	broad.mit.edu	37	1	247835987	247835987	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:247835987G>C	ENST00000359688.2	-	1	378	c.357C>G	c.(355-357)cgC>cgG	p.R119R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R119R(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCCACATAGCGGTCATAGG	0.458																																						uc001idi.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(355-357)CGC>CGG		olfactory receptor, family 13, subfamily G,							96.0	80.0	85.0					1																	247835987		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835987G>C	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.357C>G	1.37:g.247835987G>C							p.R119R	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	357	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		119			Cytoplasmic (Potential).		B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.357C>G	CCDS31094.1																																																																																				PASS	0.458	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		47	68	47	68	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343428	248343428	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:248343428C>T	ENST00000359682.2	+	1	141	c.141C>T	c.(139-141)ctC>ctT	p.L47L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L47L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATGGTTCTCCTCATCTACC	0.527																																						uc010pzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(139-141)CTC>CTT		olfactory receptor, family 2, subfamily M,							302.0	289.0	294.0					1																	248343428		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343428C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.141C>T	1.37:g.248343428C>T							p.L47L	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	141	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		47			Helical; Name=1; (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.141C>T	CCDS31106.1																																																																																				PASS	0.527	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		387	483	387	483	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436606	248436606	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:248436606C>A	ENST00000318021.2	-	1	532	c.511G>T	c.(511-513)Gag>Tag	p.E171*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E171*(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGATCGATCTCGTGTGCACCA	0.547																																						uc010pzi.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(511-513)GAG>TAG		olfactory receptor, family 2, subfamily T,							47.0	51.0	50.0					1																	248436606		2202	4289	6491	SO:0001587	stop_gained	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436606C>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.511G>T	1.37:g.248436606C>A	ENSP00000324687:p.Glu171*						p.E171*	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	511	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		171			Extracellular (Potential).		B2RNN0	Nonsense_Mutation	SNP	ENST00000318021.2	37	c.511G>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	9.551	1.116044	0.20795	.	.	ENSG00000177212	ENST00000318021	.	.	.	2.7	0.688	0.18027	.	0.492213	0.14954	U	0.288779	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	5.0377	0.14443	0.0:0.5922:0.1772:0.2306	.	.	.	.	X	171	.	ENSP00000324687:E171X	E	-	1	0	OR2T33	246503229	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.402000	0.02499	0.401000	0.25424	0.494000	0.49563	GAG		PASS	0.547	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		7	68	7	68	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248524910	248524910	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr1:248524910C>A	ENST00000366475.1	+	1	28	c.28C>A	c.(28-30)Cac>Aac	p.H10N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H10N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGGCCAGCCACACTGGATG	0.483																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(28-30)CAC>AAC		olfactory receptor, family 2, subfamily T,							78.0	74.0	76.0					1																	248524910		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524910C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.28C>A	1.37:g.248524910C>A	ENSP00000355431:p.His10Asn						p.H10N	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	28	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		10			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.28C>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	7.002	0.555157	0.13436	.	.	ENSG00000196944	ENST00000366475	T	0.01647	4.71	1.77	-1.57	0.08506	.	.	.	.	.	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.31655	0.334	B	0.18263	0.021	T	0.46911	-0.9157	9	0.87932	D	0	.	5.1427	0.14967	0.0:0.4637:0.0:0.5363	.	10	Q8NH00	OR2T4_HUMAN	N	10	ENSP00000355431:H10N	ENSP00000355431:H10N	H	+	1	0	OR2T4	246591533	0.000000	0.05858	0.018000	0.16275	0.077000	0.17291	-0.542000	0.06091	-0.467000	0.06932	0.416000	0.27883	CAC		PASS	0.483	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		69	82	69	82	---	---	---	---
KLF11	8462	broad.mit.edu	37	2	10188682	10188682	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:10188682C>G	ENST00000305883.1	+	3	1380	c.1218C>G	c.(1216-1218)ttC>ttG	p.F406L	KLF11_ENST00000535335.1_Missense_Mutation_p.F389L|KLF11_ENST00000540845.1_Missense_Mutation_p.F389L	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	406					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F406L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		AGACCTACTTCAAAAGTTCCC	0.542											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(56;431 1507 23687 50789)	uc002raf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1216-1218)TTC>TTG		Kruppel-like factor 11							79.0	77.0	78.0					2																	10188682		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10188682C>G	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1218C>G	2.37:g.10188682C>G	ENSP00000307023:p.Phe406Leu		OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662	KLF11_uc010yjc.1_Missense_Mutation_p.F389L	p.F406L	NM_003597	NP_003588	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	3	1380	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		406			C2H2-type 1.		B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.1218C>G	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207033	0.79127	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.34072	1.38;1.38;1.38	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.87269	2.87	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.68349	-0.5432	9	.	.	.	.	12.7255	0.57168	0.0:0.9245:0.0:0.0755	.	406	O14901	KLF11_HUMAN	L	406;389;389	ENSP00000307023:F406L;ENSP00000444690:F389L;ENSP00000442722:F389L	.	F	+	3	2	KLF11	10106133	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.189000	0.42621	2.591000	0.87537	0.205000	0.17691	TTC		PASS	0.542	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		27	167	27	167	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24524941	24524941	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:24524941C>T	ENST00000355123.4	-	10	1331	c.888G>A	c.(886-888)caG>caA	p.Q296Q	ITSN2_ENST00000361999.3_Silent_p.Q296Q|ITSN2_ENST00000406921.3_Silent_p.Q296Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	296	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.Q295Q(1)|p.Q296Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTTTTAGCTGTCCATCAC	0.388																																						uc002rfe.2																			2	Substitution - coding silent(2)		lung(2)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(886-888)CAG>CAA		intersectin 2 isoform 1							108.0	97.0	101.0					2																	24524941		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24524941C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.888G>A	2.37:g.24524941C>T						ITSN2_uc002rff.2_Silent_p.Q296Q|ITSN2_uc002rfg.2_Silent_p.Q296Q|ITSN2_uc010eyd.2_Silent_p.Q321Q	p.Q296Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			10	1146	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		296			EH 2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.888G>A	CCDS1710.2																																																																																				PASS	0.388	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		28	70	28	70	---	---	---	---
CIB4	130106	broad.mit.edu	37	2	26864137	26864137	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:26864137C>T	ENST00000288861.4	-	1	99	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	16							calcium ion binding (GO:0005509)	p.E16K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGGTACTCTTCCAGGTCC	0.552																																						uc002rhm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)GAG>AAG		calcium and integrin binding family member 4							267.0	233.0	244.0					2																	26864137		2203	4300	6503	SO:0001583	missense	130106						calcium ion binding	g.chr2:26864137C>T		CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.46G>A	2.37:g.26864137C>T	ENSP00000288861:p.Glu16Lys						p.E16K	NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN			1	75	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		16					B2RU18	Missense_Mutation	SNP	ENST00000288861.4	37	c.46G>A	CCDS33160.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524728	0.85600	.	.	ENSG00000157884	ENST00000288861	T	0.67345	-0.26	5.45	5.45	0.79879	EF-hand-like domain (1);	0.000000	0.64402	D	0.000007	T	0.76528	0.4000	L	0.49640	1.575	0.80722	D	1	D	0.63880	0.993	D	0.69479	0.964	T	0.76011	-0.3115	10	0.49607	T	0.09	.	15.1311	0.72523	0.0:1.0:0.0:0.0	.	16	A0PJX0	CIB4_HUMAN	K	16	ENSP00000288861:E16K	ENSP00000288861:E16K	E	-	1	0	CIB4	26717641	0.988000	0.35896	0.999000	0.59377	0.960000	0.62799	3.521000	0.53472	2.711000	0.92665	0.655000	0.94253	GAG		PASS	0.552	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1			56	314	56	314	---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32445321	32445321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:32445321G>T	ENST00000282587.5	+	14	962	c.925G>T	c.(925-927)Gaa>Taa	p.E309*	SLC30A6_ENST00000379343.2_Nonsense_Mutation_p.E349*|SLC30A6_ENST00000435660.1_Nonsense_Mutation_p.E286*|SLC30A6_ENST00000357055.3_Nonsense_Mutation_p.E112*|SLC30A6_ENST00000406369.1_Nonsense_Mutation_p.E235*|SLC30A6_ENST00000538303.1_Nonsense_Mutation_p.E280*	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	309					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.E309*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGATGCCAATGAACAAATGGT	0.378																																						uc002roe.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(925-927)GAA>TAA		solute carrier family 30 (zinc transporter),							118.0	99.0	105.0					2																	32445321		2203	4300	6503	SO:0001587	stop_gained	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32445321G>T	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.925G>T	2.37:g.32445321G>T	ENSP00000282587:p.Glu309*					SLC30A6_uc002rof.1_Nonsense_Mutation_p.E349*|SLC30A6_uc010ymw.1_Nonsense_Mutation_p.E280*|SLC30A6_uc010ezr.1_Nonsense_Mutation_p.E286*|SLC30A6_uc002rog.1_Nonsense_Mutation_p.E112*|SLC30A6_uc010ezs.1_Nonsense_Mutation_p.E235*|SLC30A6_uc002roh.1_Nonsense_Mutation_p.E112*	p.E309*	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN			14	962	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		309			Cytoplasmic (Potential).		A5YM45|B7Z901|Q8N5C9|Q96NC3	Nonsense_Mutation	SNP	ENST00000282587.5	37	c.925G>T	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003341	0.93287	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	.	.	.	5.74	5.74	0.90152	.	0.046925	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-22.2255	19.5137	0.95154	0.0:0.0:1.0:0.0	.	.	.	.	X	349;309;286;280;112;235	.	ENSP00000282587:E309X	E	+	1	0	SLC30A6	32298825	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.153000	0.94687	2.702000	0.92279	0.591000	0.81541	GAA		PASS	0.378	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			26	95	26	95	---	---	---	---
STRN	6801	broad.mit.edu	37	2	37085108	37085108	+	Silent	SNP	A	A	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:37085108A>T	ENST00000263918.4	-	14	1736	c.1728T>A	c.(1726-1728)gcT>gcA	p.A576A	STRN_ENST00000379213.2_Silent_p.A527A	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	576					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.A576A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTGCACTATAAGCCAAACCCC	0.443																																						uc002rpn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1726-1728)GCT>GCA		striatin, calmodulin binding protein							60.0	56.0	57.0					2																	37085108		2203	4300	6503	SO:0001819	synonymous_variant	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37085108A>T	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1728T>A	2.37:g.37085108A>T						STRN_uc010ezx.2_Silent_p.A539A	p.A576A	NM_003162	NP_003153	O43815	STRN_HUMAN			14	1737	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	576			WD 3.		Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	c.1728T>A	CCDS1784.1																																																																																				PASS	0.443	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			4	30	4	30	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37255256	37255256	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:37255256C>T	ENST00000233099.5	-	24	3758	c.3663G>A	c.(3661-3663)gaG>gaA	p.E1221E	HEATR5B_ENST00000354531.2_Silent_p.E1221E	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1221						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.E1221E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATCATCCATCTCATCTTTCT	0.403																																						uc002rpp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(3661-3663)GAG>GAA		HEAT repeat containing 5B							97.0	102.0	100.0					2																	37255256		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37255256C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3663G>A	2.37:g.37255256C>T							p.E1221E	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			24	3759	-		all_hematologic(82;0.21)	1221					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.3663G>A	CCDS33181.1																																																																																				PASS	0.403	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		4	110	4	110	---	---	---	---
PRKD3	23683	broad.mit.edu	37	2	37543546	37543546	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:37543546G>C	ENST00000379066.1	-	2	884	c.122C>G	c.(121-123)tCt>tGt	p.S41C	PRKD3_ENST00000477132.1_5'Flank|PRKD3_ENST00000234179.2_Missense_Mutation_p.S41C			O94806	KPCD3_HUMAN	protein kinase D3	41					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.S41C(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GCTTCCATTAGAGAGTCGGGC	0.512																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(121-123)TCT>TGT		protein kinase D3							88.0	85.0	86.0					2																	37543546		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37543546G>C	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.122C>G	2.37:g.37543546G>C	ENSP00000368356:p.Ser41Cys					PRKD3_uc002rqf.1_Missense_Mutation_p.S41C	p.S41C	NM_005813	NP_005804	O94806	KPCD3_HUMAN			1	677	-		all_hematologic(82;0.21)	41					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.122C>G	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797701	0.90538	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.68025	-0.3;-0.3	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.76506	0.3997	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.64595	0.927;0.628	T	0.76170	-0.3057	10	0.51188	T	0.08	-16.183	17.9492	0.89047	0.0:0.0:1.0:0.0	.	41;41	O94806-2;O94806	.;KPCD3_HUMAN	C	41	ENSP00000368356:S41C;ENSP00000234179:S41C	ENSP00000234179:S41C	S	-	2	0	PRKD3	37397050	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	8.964000	0.93389	2.665000	0.90641	0.591000	0.81541	TCT		PASS	0.512	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		21	171	21	171	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39214723	39214723	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:39214723G>C	ENST00000426016.1	-	23	3487	c.3401C>G	c.(3400-3402)tCt>tGt	p.S1134C	SOS1_ENST00000402219.2_Missense_Mutation_p.S1134C|SOS1_ENST00000395038.2_Missense_Mutation_p.S1119C			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1134					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1134C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGATGATACAGAAGCAGATCC	0.388									Noonan syndrome																													uc002rrk.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(3400-3402)TCT>TGT		son of sevenless homolog 1							41.0	42.0	42.0					2																	39214723		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39214723G>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3401C>G	2.37:g.39214723G>C	ENSP00000387784:p.Ser1134Cys					SOS1_uc002rrj.3_Missense_Mutation_p.S733C	p.S1134C	NM_005633	NP_005624	Q07889	SOS1_HUMAN			22	3442	-		all_hematologic(82;0.21)	1134					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.3401C>G	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139477	0.77775	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.79454	-1.11;-1.11;-1.27	5.72	5.72	0.89469	.	0.380203	0.28130	N	0.016490	D	0.85605	0.5735	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.82711	-0.0322	10	0.35671	T	0.21	.	19.8607	0.96783	0.0:0.0:1.0:0.0	.	1134	Q07889	SOS1_HUMAN	C	1134;1134;851;1119	ENSP00000387784:S1134C;ENSP00000384675:S1134C;ENSP00000378479:S1119C	ENSP00000378479:S1119C	S	-	2	0	SOS1	39068227	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.760000	0.91671	2.850000	0.98022	0.650000	0.86243	TCT		PASS	0.388	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		3	24	3	24	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48896892	48896892	+	Missense_Mutation	SNP	G	G	T	rs199722656		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:48896892G>T	ENST00000403751.3	+	7	1047	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R994L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R1041L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R1041L|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.R303L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R1041L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R1041L|LHCGR_ENST00000420913.3_5'Flank	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	337					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1041Q(1)|p.R1041L(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTAAGCATTCGGGTTACTGAT	0.308																																						uc010yol.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2980-2982)CGG>CTG		stonin 1							105.0	115.0	112.0					2																	48896892		2202	4300	6502	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48896892G>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1010G>T	2.37:g.48896892G>T	ENSP00000384597:p.Arg337Leu					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.R1041L|GTF2A1L_uc002rws.1_Missense_Mutation_p.R337L|GTF2A1L_uc010yom.1_Missense_Mutation_p.R303L|GTF2A1L_uc002rwt.2_Missense_Mutation_p.R337L	p.R994L	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	3028	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	994					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2981G>T	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	3.330	-0.136962	0.06711	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751	T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;3.14	4.94	-0.953	0.10362	.	0.932479	0.08994	N	0.863947	T	0.07954	0.0199	L	0.29908	0.895	0.35773	D	0.821091	B;B;B;B;B	0.23128	0.001;0.023;0.0;0.001;0.08	B;B;B;B;B	0.23419	0.003;0.008;0.0;0.005;0.046	T	0.19943	-1.0290	10	0.66056	D	0.02	.	5.4866	0.16753	0.6296:0.1359:0.2345:0.0	.	303;994;1041;337;1041	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	L	1041;1041;1041;1041;994;336;303;337	ENSP00000385499:R1041L;ENSP00000385701:R1041L;ENSP00000378236:R1041L;ENSP00000311493:R1041L;ENSP00000378234:R994L	ENSP00000384597:R337L	R	+	2	0	STON1-GTF2A1L;GTF2A1L	48750396	0.015000	0.18098	0.064000	0.19789	0.055000	0.15305	0.363000	0.20301	-0.228000	0.09869	-0.459000	0.05422	CGG		PASS	0.308	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		22	165	22	165	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49190072	49190072	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:49190072T>C	ENST00000406846.2	-	10	2007	c.1888A>G	c.(1888-1890)Acc>Gcc	p.T630A	FSHR_ENST00000346173.3_Missense_Mutation_p.T568A|FSHR_ENST00000304421.4_Missense_Mutation_p.T604A|FSHR_ENST00000541117.1_Missense_Mutation_p.T366A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	630					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.T630A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAGTTTTTGGTAAAGATGGCA	0.463									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1888-1890)ACC>GCC		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						81.0	83.0	82.0					2																	49190072		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190072T>C		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1888A>G	2.37:g.49190072T>C	ENSP00000384708:p.Thr630Ala					FSHR_uc002rwx.2_Missense_Mutation_p.T568A|FSHR_uc010fbn.2_Missense_Mutation_p.T604A	p.T630A	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1962	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	630			Helical; Name=7; (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1888A>G	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.785019	0.70222	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.35	5.35	0.76521	.	0.103469	0.64402	D	0.000003	D	0.98457	0.9486	M	0.92833	3.35	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.80764	0.986;0.994;0.986	D	0.99552	1.0966	9	.	.	.	.	14.958	0.71131	0.0:0.0:0.0:1.0	.	604;568;630	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	A	630;568;604;366	ENSP00000384708:T630A;ENSP00000333908:T568A;ENSP00000306780:T604A;ENSP00000444172:T366A	.	T	-	1	0	FSHR	49043576	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.825000	0.86693	2.371000	0.80710	0.533000	0.62120	ACC		PASS	0.463	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			31	83	31	83	---	---	---	---
RP11-481J13.1	0	broad.mit.edu	37	2	56210178	56210178	+	lincRNA	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:56210178T>C	ENST00000606639.1	+	0	82				MIR217_ENST00000384817.1_RNA|AC011306.2_ENST00000446139.1_lincRNA																							TGATGCAGTATCTGCGACATC	0.323																																						hsa-mir-217|MI0000293																			0					0															71.0	63.0	65.0					2																	56210178		1568	3582	5150			406999							g.chr2:56210178T>C																													2.37:g.56210178T>C						uc002rzk.2_Intron|uc010ypd.1_RNA										-									RNA	SNP	ENST00000606639.1	37	c.34T>C																																																																																					PASS	0.323	RP11-481J13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470754.1			6	21	6	21	---	---	---	---
PELI1	57162	broad.mit.edu	37	2	64321978	64321978	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:64321978G>A	ENST00000358912.4	-	7	1557	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	372					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S372L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TGTCTTTTCTGAACACACATG	0.512																																						uc002scs.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1114-1116)TCA>TTA		pellino protein							127.0	112.0	117.0					2																	64321978		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64321978G>A		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.1115C>T	2.37:g.64321978G>A	ENSP00000351789:p.Ser372Leu					PELI1_uc002sct.3_Missense_Mutation_p.S372L|PELI1_uc002scr.3_Missense_Mutation_p.S193L	p.S372L	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN			6	5154	-			372					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.1115C>T	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400968	0.83120	.	.	ENSG00000197329	ENST00000358912	T	0.55052	0.54	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.86651	2.83	0.80722	D	1	D	0.62365	0.991	D	0.65987	0.94	T	0.80101	-0.1523	10	0.87932	D	0	-10.5661	20.2187	0.98312	0.0:0.0:1.0:0.0	.	372	Q96FA3	PELI1_HUMAN	L	372	ENSP00000351789:S372L	ENSP00000351789:S372L	S	-	2	0	PELI1	64175482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	TCA		PASS	0.512	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		28	169	28	169	---	---	---	---
MPHOSPH10	10199	broad.mit.edu	37	2	71376996	71376996	+	Splice_Site	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:71376996G>A	ENST00000244230.2	+	11	2249	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	633					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.D633N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTAATTGCAGGATGAAGGTAA	0.313																																						uc002sht.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1897-1899)GAT>AAT		M-phase phosphoprotein 10							137.0	143.0	141.0					2																	71376996		2203	4298	6501	SO:0001630	splice_region_variant	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71376996G>A	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1897-1G>A	2.37:g.71376996G>A							p.D633N	NM_005791	NP_005782	O00566	MPP10_HUMAN			11	2249	+			633					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.1897G>A	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166378	0.78339	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.09255	3.0;3.0	5.85	5.85	0.93711	.	0.054253	0.64402	D	0.000001	T	0.19485	0.0468	L	0.37750	1.13	0.54753	D	0.999987	D	0.52996	0.957	P	0.55087	0.768	T	0.00154	-1.1981	9	.	.	.	.	18.0364	0.89305	0.0:0.0:1.0:0.0	.	633	O00566	MPP10_HUMAN	N	633;493	ENSP00000244230:D633N;ENSP00000393034:D493N	.	D	+	1	0	MPHOSPH10	71230504	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.724000	0.74747	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.313	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791	Missense_Mutation	26	183	26	183	---	---	---	---
GCFC2	6936	broad.mit.edu	37	2	75915073	75915073	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:75915073A>G	ENST00000321027.3	-	11	1703	c.1570T>C	c.(1570-1572)Tgg>Cgg	p.W524R	GCFC2_ENST00000409857.3_Missense_Mutation_p.W486R|GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000358788.6_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	524					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.W524R(1)									GATTTGAACCATGGCATCTCT	0.289																																						uc002sno.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1570-1572)TGG>CGG		hypothetical protein LOC6936							53.0	56.0	55.0					2																	75915073		2202	4299	6501	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75915073A>G	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1570T>C	2.37:g.75915073A>G	ENSP00000318690:p.Trp524Arg					C2orf3_uc010ffs.2_Missense_Mutation_p.W86R|C2orf3_uc002snn.2_Missense_Mutation_p.W355R|C2orf3_uc010fft.2_Missense_Mutation_p.W199R	p.W524R	NM_003203	NP_003194	P16383	GCF_HUMAN			11	1700	-			524					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.1570T>C	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893238	0.72524	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.52526	0.66;0.66	5.7	5.7	0.88788	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78892	-0.2025	10	0.87932	D	0	-8.2275	14.2304	0.65887	1.0:0.0:0.0:0.0	.	524	P16383	GCF_HUMAN	R	524;486	ENSP00000318690:W524R;ENSP00000386552:W486R	ENSP00000318690:W524R	W	-	1	0	C2orf3	75768581	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	5.586000	0.67503	2.308000	0.77769	0.533000	0.62120	TGG		PASS	0.289	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		15	67	15	67	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746749	77746749	+	Silent	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:77746749G>T	ENST00000409093.1	-	3	582	c.246C>A	c.(244-246)gcC>gcA	p.A82A	LRRTM4_ENST00000409911.1_Silent_p.A83A|LRRTM4_ENST00000409884.1_Silent_p.A82A|LRRTM4_ENST00000409282.1_Silent_p.A83A|LRRTM4_ENST00000409088.3_Silent_p.A82A			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	82					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.A82A(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTTAAGGCCGGCAAACTGAT	0.408																																						uc002snr.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(244-246)GCC>GCA		leucine rich repeat transmembrane neuronal 4							129.0	122.0	124.0					2																	77746749		1903	4115	6018	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77746749G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.246C>A	2.37:g.77746749G>T						LRRTM4_uc002snq.2_Silent_p.A82A|LRRTM4_uc002sns.2_Silent_p.A82A|LRRTM4_uc002snt.2_Silent_p.A83A	p.A82A	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	661	-			82			LRR 1.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.246C>A	CCDS46346.1																																																																																				PASS	0.408	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		19	80	19	80	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79348732	79348732	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:79348732C>G	ENST00000233735.1	+	3	212	c.109C>G	c.(109-111)Cca>Gca	p.P37A		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	37	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.P37A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GATCAGCTGCCCAGAAGGCAC	0.527																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)CCA>GCA		regenerating islet-derived 1 alpha precursor							176.0	180.0	179.0					2																	79348732		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348732C>G		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.109C>G	2.37:g.79348732C>G	ENSP00000233735:p.Pro37Ala					REG1A_uc010ffx.1_Missense_Mutation_p.P37A|REG1A_uc010ysd.1_Missense_Mutation_p.P37A	p.P37A	NM_002909	NP_002900	P05451	REG1A_HUMAN			3	212	+			37			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.109C>G	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	15.87	2.961442	0.53400	.	.	ENSG00000115386	ENST00000233735	T	0.12039	2.72	2.85	2.85	0.33270	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.38778	N	0.001568	T	0.38268	0.1034	M	0.90705	3.14	0.09310	N	0.999998	D;D	0.65815	0.995;0.995	D;D	0.65684	0.937;0.937	T	0.13229	-1.0517	10	0.72032	D	0.01	.	9.368	0.38237	0.0:1.0:0.0:0.0	.	37;37	A8K7G6;P05451	.;REG1A_HUMAN	A	37	ENSP00000233735:P37A	ENSP00000233735:P37A	P	+	1	0	REG1A	79202240	0.091000	0.21658	0.213000	0.23690	0.912000	0.54170	2.928000	0.48908	1.892000	0.54788	0.563000	0.77884	CCA		PASS	0.527	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		80	390	80	390	---	---	---	---
DNAH6	1768	broad.mit.edu	37	2	84775530	84775530	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:84775530G>C	ENST00000237449.6	+	7	1313	c.1305G>C	c.(1303-1305)atG>atC	p.M435I	DNAH6_ENST00000389394.3_Missense_Mutation_p.M435I|DNAH6_ENST00000398278.2_Missense_Mutation_p.M435I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	435	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M435I(1)|p.M14I(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTATTGCATGAGGCTGACGT	0.373																																						uc010fgb.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1303-1305)ATG>ATC		dynein, axonemal, heavy polypeptide 6							115.0	114.0	114.0					2																	84775530		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84775530G>C	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1305G>C	2.37:g.84775530G>C	ENSP00000237449:p.Met435Ile					DNAH6_uc002soo.2_Missense_Mutation_p.M14I|DNAH6_uc002sop.2_Missense_Mutation_p.M14I	p.M435I	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			8	1442	+			435			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1305G>C	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866331	0.32977	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.23552	1.9;2.03;1.9	5.44	1.32	0.21799	.	0.604497	0.15820	N	0.243035	T	0.20659	0.0497	L	0.60455	1.87	0.21256	N	0.999743	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17379	-1.0371	10	0.40728	T	0.16	.	3.9782	0.09484	0.3341:0.0:0.5056:0.1603	.	435;14	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	I	435	ENSP00000374045:M435I;ENSP00000381326:M435I;ENSP00000237449:M435I	ENSP00000237449:M435I	M	+	3	0	DNAH6	84629041	0.829000	0.29322	0.993000	0.49108	0.955000	0.61496	0.259000	0.18405	0.665000	0.31066	0.591000	0.81541	ATG		PASS	0.373	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		11	92	11	92	---	---	---	---
ST3GAL5	8869	broad.mit.edu	37	2	86088343	86088343	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:86088343G>T	ENST00000377332.3	-	3	387	c.279C>A	c.(277-279)gaC>gaA	p.D93E	ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.D65E|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.D70E|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.D93E	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	93					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)	p.D93E(1)|p.D70E(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TTTTTTTCATGTCACATTCTT	0.333																																						uc002sqq.1																			2	Substitution - Missense(2)		lung(2)		0						c.(277-279)GAC>GAA		ST3 beta-galactoside alpha-2,3-sialyltransferase							129.0	125.0	126.0					2																	86088343		2203	4300	6503	SO:0001583	missense	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86088343G>T	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.279C>A	2.37:g.86088343G>T	ENSP00000366549:p.Asp93Glu					ST3GAL5_uc010ysy.1_Missense_Mutation_p.D93E|ST3GAL5_uc010ysz.1_Missense_Mutation_p.D93E|ST3GAL5_uc010fgq.1_5'UTR|ST3GAL5_uc002sqp.1_Missense_Mutation_p.D70E	p.D93E	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN			3	408	-			93			Lumenal (Potential).		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	c.279C>A	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169233	0.78339	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	T;T;T;T;T	0.67345	1.46;1.47;1.43;0.72;-0.26	5.84	2.92	0.33932	.	0.089509	0.48286	D	0.000186	T	0.69079	0.3071	L	0.32530	0.975	0.34995	D	0.755379	D;D;P;P	0.89917	1.0;1.0;0.884;0.877	D;D;B;B	0.72075	0.965;0.976;0.211;0.38	T	0.73968	-0.3815	10	0.87932	D	0	-27.7723	7.6262	0.28214	0.2838:0.0:0.7162:0.0	.	93;93;93;70	G3V199;B7Z9J0;Q9UNP4;Q9UNP4-3	.;.;SIAT9_HUMAN;.	E	70;65;93;65;93	ENSP00000377397:D70E;ENSP00000377394:D65E;ENSP00000366549:D93E;ENSP00000401375:D65E;ENSP00000433607:D93E	ENSP00000306247:D93E	D	-	3	2	ST3GAL5	85941854	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.597000	0.46214	0.304000	0.22809	-0.150000	0.13652	GAC		PASS	0.333	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		8	73	8	73	---	---	---	---
IMMT	10989	broad.mit.edu	37	2	86378500	86378500	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:86378500C>T	ENST00000410111.3	-	12	1708	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	IMMT_ENST00000449247.2_Missense_Mutation_p.E430K|IMMT_ENST00000409051.2_Missense_Mutation_p.E394K|IMMT_ENST00000254636.5_Missense_Mutation_p.E342K|IMMT_ENST00000442664.2_Missense_Mutation_p.E440K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	441					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.E441K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCGCTTTTCTTCCAGCTTT	0.448																																						uc002sqz.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1321-1323)GAA>AAA		inner membrane protein, mitochondrial isoform 1							169.0	148.0	155.0					2																	86378500		1944	4155	6099	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86378500C>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1321G>A	2.37:g.86378500C>T	ENSP00000387262:p.Glu441Lys					IMMT_uc002sqy.3_Missense_Mutation_p.E182K|IMMT_uc002srb.3_Missense_Mutation_p.E430K|IMMT_uc002sra.3_Missense_Mutation_p.E440K|IMMT_uc010ytd.1_Missense_Mutation_p.E429K|IMMT_uc010yte.1_Missense_Mutation_p.E394K|IMMT_uc002src.1_Missense_Mutation_p.E177K	p.E441K	NM_006839	NP_006830	Q16891	IMMT_HUMAN			12	1709	-			441			Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.1321G>A	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.590338|4.590338	0.86851|0.86851	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.31769|.	1.48;1.48;1.48;1.48;1.48|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.092672|.	0.64402|.	D|.	0.000001|.	T|T	0.67524|0.67524	0.2902|0.2902	L|L	0.40543|0.40543	1.245|1.245	0.49915|0.49915	D|D	0.999836|0.999836	B;P;P;P;P;P|.	0.41188|.	0.387;0.741;0.741;0.696;0.696;0.741|.	B;B;B;B;B;B|.	0.42462|.	0.388;0.388;0.388;0.268;0.268;0.388|.	T|T	0.61594|0.61594	-0.7031|-0.7031	10|5	0.27785|.	T|.	0.31|.	-20.8234|-20.8234	19.822|19.822	0.96602|0.96602	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	394;429;343;430;409;441|.	B9A067;B4DKR1;B4DS66;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;.;IMMT_HUMAN|.	K|K	342;430;441;440;394;430;409;342|295	ENSP00000254636:E342K;ENSP00000396899:E430K;ENSP00000387262:E441K;ENSP00000407788:E440K;ENSP00000387227:E394K|.	ENSP00000254636:E342K|.	E|R	-|-	1|2	0|0	IMMT|IMMT	86232011|86232011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.278000|3.278000	0.51662|0.51662	2.696000|2.696000	0.92011|0.92011	0.650000|0.650000	0.86243|0.86243	GAA|AGA		PASS	0.448	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		18	123	18	123	---	---	---	---
THNSL2	55258	broad.mit.edu	37	2	88474877	88474877	+	Silent	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:88474877C>A	ENST00000324166.5	+	3	2219	c.528C>A	c.(526-528)ctC>ctA	p.L176L	THNSL2_ENST00000449349.1_Silent_p.L144L|THNSL2_ENST00000402102.1_Silent_p.L176L|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Silent_p.L176L|THNSL2_ENST00000343544.4_Silent_p.L176L|THNSL2_ENST00000358591.2_Silent_p.L176L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	176					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.L176L(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TTCAGGAGCTCCAGATGACAA	0.522																																						uc002ssz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(526-528)CTC>CTA		threonine synthase-like 2							154.0	112.0	126.0					2																	88474877		2203	4300	6503	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88474877C>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.528C>A	2.37:g.88474877C>A						THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Silent_p.L176L|THNSL2_uc002ssx.3_Silent_p.L144L|THNSL2_uc002sta.3_Silent_p.L18L|THNSL2_uc002ssy.3_Silent_p.L176L|THNSL2_uc010fhe.2_Silent_p.L18L	p.L176L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			4	681	+			176					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.528C>A	CCDS2002.2																																																																																				PASS	0.522	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		20	80	20	80	---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95815590	95815590	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:95815590G>A	ENST00000295208.2	-	5	1102	c.640C>T	c.(640-642)Cac>Tac	p.H214Y	ZNF514_ENST00000411425.1_Missense_Mutation_p.H214Y|MRPS5_ENST00000475040.1_5'Flank	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H214Y(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						GACTGGAAGTGAAAGGACTTC	0.448																																						uc002sue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)CAC>TAC		zinc finger protein 514							121.0	128.0	126.0					2																	95815590		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815590G>A	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.640C>T	2.37:g.95815590G>A	ENSP00000295208:p.His214Tyr					ZNF514_uc002sud.1_Missense_Mutation_p.H287Y	p.H214Y	NM_032788	NP_116177	Q96K75	ZN514_HUMAN			5	1014	-			214			C2H2-type 1.		Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.640C>T	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982319	0.34942	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.35789	1.29;1.29	3.18	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20901	0.0503	L	0.33485	1.01	0.21527	N	0.999658	B;P	0.36587	0.005;0.559	B;B	0.26693	0.002;0.072	T	0.10382	-1.0632	9	0.40728	T	0.16	.	5.6335	0.17524	0.2534:0.0:0.7466:0.0	.	214;33	Q96K75;Q658L7	ZN514_HUMAN;.	Y	214	ENSP00000295208:H214Y;ENSP00000405509:H214Y	ENSP00000295208:H214Y	H	-	1	0	ZNF514	95179317	0.000000	0.05858	0.997000	0.53966	0.934000	0.57294	-0.217000	0.09253	0.877000	0.35895	0.655000	0.94253	CAC		PASS	0.448	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		64	313	64	313	---	---	---	---
GPAT2	150763	broad.mit.edu	37	2	96690252	96690252	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:96690252T>C	ENST00000434632.1	-	16	2051	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R	GPAT2_ENST00000453542.1_Missense_Mutation_p.Q460R|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.Q531R|GPAT2_ENST00000377137.3_Missense_Mutation_p.Q531R			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	531					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.Q531R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGGGCCAGGCTGCGGCACCAC	0.677																																						uc002svf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1591-1593)CAG>CGG		glycerol-3-phosphate acyltransferase 2,							53.0	59.0	57.0					2																	96690252		2141	4235	6376	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690252T>C	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1592A>G	2.37:g.96690252T>C	ENSP00000389395:p.Gln531Arg					GPAT2_uc002svd.2_Missense_Mutation_p.Q350R|GPAT2_uc002sve.2_Missense_Mutation_p.Q333R|GPAT2_uc002svg.2_Missense_Mutation_p.Q410R|GPAT2_uc010yuh.1_Missense_Mutation_p.Q460R|GPAT2_uc002svh.2_Missense_Mutation_p.Q531R	p.Q531R	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			15	1815	-			531					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1592A>G	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	t	0.118	-1.129551	0.01756	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.75477	-0.93;-0.93;0.07;-0.94	4.63	4.63	0.57726	.	0.483471	0.19622	N	0.109897	T	0.34890	0.0913	N	0.00246	-1.78	0.09310	N	0.999997	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.30327	-0.9982	10	0.10902	T	0.67	-17.9321	8.9159	0.35581	0.0:0.8983:0.0:0.1017	.	460;531;537;531;460	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	R	531;531;460;531	ENSP00000352547:Q531R;ENSP00000389395:Q531R;ENSP00000393770:Q460R;ENSP00000366341:Q531R	ENSP00000352547:Q531R	Q	-	2	0	GPAT2	96053979	0.624000	0.27102	0.835000	0.33067	0.226000	0.24999	1.671000	0.37513	1.189000	0.43028	-0.154000	0.13518	CAG		PASS	0.677	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		44	177	44	177	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125660566	125660566	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:125660566C>A	ENST00000431078.1	+	22	3905	c.3541C>A	c.(3541-3543)Cgc>Agc	p.R1181S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1181	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R1181S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCTGCCCTGCGCCATGCCAC	0.537																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(3541-3543)CGC>AGC		contactin associated protein-like 5 precursor							63.0	64.0	64.0					2																	125660566		2132	4255	6387	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125660566C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3541C>A	2.37:g.125660566C>A	ENSP00000399013:p.Arg1181Ser					CNTNAP5_uc010flu.2_Missense_Mutation_p.R1182S	p.R1181S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	22	3905	+			1181			Extracellular (Potential).|Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3541C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277370	0.40294	.	.	ENSG00000155052	ENST00000431078	D	0.88818	-2.43	5.5	5.5	0.81552	Laminin G domain (1);	0.000000	0.49916	D	0.000128	D	0.95223	0.8451	M	0.87269	2.87	0.47407	D	0.999419	D	0.89917	1.0	D	0.81914	0.995	D	0.95299	0.8402	10	0.56958	D	0.05	.	18.4001	0.90513	0.0:1.0:0.0:0.0	.	1181	Q8WYK1	CNTP5_HUMAN	S	1181	ENSP00000399013:R1181S	ENSP00000399013:R1181S	R	+	1	0	CNTNAP5	125377036	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	5.850000	0.69473	2.597000	0.87782	0.655000	0.94253	CGC		PASS	0.537	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			10	27	10	27	---	---	---	---
AMMECR1L	83607	broad.mit.edu	37	2	128628485	128628485	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:128628485C>A	ENST00000272647.5	-	5	796	c.536G>T	c.(535-537)cGa>cTa	p.R179L	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.R179L	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	179	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.							p.R179L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GGGGGGAAATCGGCTGTCCTT	0.517																																						uc002tpl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(535-537)CGA>CTA		AMME chromosomal region gene 1-like							38.0	37.0	37.0					2																	128628485		2203	4300	6503	SO:0001583	missense	83607							g.chr2:128628485C>A		CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.536G>T	2.37:g.128628485C>A	ENSP00000272647:p.Arg179Leu					AMMECR1L_uc002tpm.2_Missense_Mutation_p.R179L	p.R179L	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	5	787	-	Colorectal(110;0.1)		179			AMMECR1.		B4E276	Missense_Mutation	SNP	ENST00000272647.5	37	c.536G>T	CCDS2152.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406371	0.96051	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.46	5.46	0.80206	AMMECR1 domain (2);	0.000000	0.64402	D	0.000007	D	0.91074	0.7191	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94118	0.7377	9	0.87932	D	0	-8.3942	19.6629	0.95879	0.0:1.0:0.0:0.0	.	179	Q6DCA0	AMERL_HUMAN	L	179	.	ENSP00000272647:R179L	R	-	2	0	AMMECR1L	128344955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.726000	0.93360	0.655000	0.94253	CGA		PASS	0.517	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		6	36	6	36	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160803951	160803951	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:160803951G>C	ENST00000283243.7	-	26	4035	c.3829C>G	c.(3829-3831)Cat>Gat	p.H1277D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.H1277D|PLA2R1_ENST00000460710.1_5'Flank	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1277	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.H1277D(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAAAATTCATGAGCAGCCTCA	0.348																																						uc002ube.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3829-3831)CAT>GAT		phospholipase A2 receptor 1 isoform 1 precursor							114.0	113.0	113.0					2																	160803951		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160803951G>C	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3829C>G	2.37:g.160803951G>C	ENSP00000283243:p.His1277Asp					PLA2R1_uc010zcp.1_Missense_Mutation_p.H1277D|PLA2R1_uc002ubf.2_Missense_Mutation_p.H1277D	p.H1277D	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			26	4036	-			1277			Extracellular (Potential).|C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.3829C>G	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152441	0.38021	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16597	2.33;3.19	5.66	3.84	0.44239	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.778030	0.12312	N	0.480117	T	0.07683	0.0193	N	0.17723	0.515	0.29269	N	0.870777	B;P;P	0.39862	0.002;0.692;0.642	B;B;B	0.32465	0.005;0.146;0.121	T	0.07947	-1.0746	10	0.12766	T	0.61	.	4.3981	0.11372	0.2457:0.0:0.5782:0.176	.	1277;1277;1277	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	D	1277	ENSP00000283243:H1277D;ENSP00000376524:H1277D	ENSP00000283243:H1277D	H	-	1	0	PLA2R1	160512197	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.155000	0.31700	1.539000	0.49286	-0.225000	0.12378	CAT		PASS	0.348	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			26	121	26	121	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160824165	160824165	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:160824165G>A	ENST00000283243.7	-	20	2995	c.2789C>T	c.(2788-2790)tCa>tTa	p.S930L	PLA2R1_ENST00000392771.1_Missense_Mutation_p.S930L	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	930	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.S930L(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATAGAAACTGAACACTCTTC	0.408																																						uc002ube.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2788-2790)TCA>TTA		phospholipase A2 receptor 1 isoform 1 precursor							125.0	115.0	118.0					2																	160824165		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160824165G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2789C>T	2.37:g.160824165G>A	ENSP00000283243:p.Ser930Leu					PLA2R1_uc010zcp.1_Missense_Mutation_p.S930L|PLA2R1_uc002ubf.2_Missense_Mutation_p.S930L	p.S930L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			20	2996	-			930			Extracellular (Potential).|C-type lectin 5.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.2789C>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888377	0.72524	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.09255	3.0;3.0	5.76	5.76	0.90799	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.214569	0.40064	N	0.001182	T	0.22704	0.0548	M	0.66297	2.02	0.38238	D	0.941235	P;D;D	0.58268	0.774;0.982;0.961	P;P;P	0.51487	0.593;0.671;0.621	T	0.01524	-1.1333	10	0.23891	T	0.37	.	18.1155	0.89553	0.0:0.0:1.0:0.0	.	930;930;930	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	L	930	ENSP00000283243:S930L;ENSP00000376524:S930L	ENSP00000283243:S930L	S	-	2	0	PLA2R1	160532411	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	5.707000	0.68370	2.880000	0.98712	0.650000	0.86243	TCA		PASS	0.408	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			28	130	28	130	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163241255	163241255	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:163241255C>T	ENST00000332142.5	-	13	3004	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	969					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E969K(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGCACTGTTTCTTCAAAATCG	0.433																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2905-2907)GAA>AAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						177.0	171.0	173.0					2																	163241255		2203	4299	6502	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163241255C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2905G>A	2.37:g.163241255C>T	ENSP00000331727:p.Glu969Lys						p.E969K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			13	3117	-			969			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2905G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611290	0.28712	.	.	ENSG00000184611	ENST00000332142	D	0.98493	-4.96	5.3	4.42	0.53409	.	0.431030	0.27768	N	0.017939	D	0.92509	0.7621	N	0.08118	0	0.80722	D	1	B	0.30406	0.278	B	0.24974	0.057	D	0.91075	0.4895	10	0.06625	T	0.88	.	14.1849	0.65598	0.0:0.9278:0.0:0.0722	.	969	Q9NS40	KCNH7_HUMAN	K	969	ENSP00000331727:E969K	ENSP00000331727:E969K	E	-	1	0	KCNH7	162949501	1.000000	0.71417	0.566000	0.28421	0.716000	0.41182	2.807000	0.47955	1.386000	0.46466	0.655000	0.94253	GAA		PASS	0.433	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		43	235	43	235	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467850	164467850	+	Silent	SNP	T	T	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:164467850T>A	ENST00000333129.3	-	3	806	c.492A>T	c.(490-492)tcA>tcT	p.S164S	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	164					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.S164S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGGTACTACTTGAATAACTAG	0.507																																						uc002uck.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(490-492)TCA>TCT		fidgetin							74.0	73.0	73.0					2																	164467850		1952	4155	6107	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467850T>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.492A>T	2.37:g.164467850T>A							p.S164S	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	803	-			164					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.492A>T	CCDS2221.2																																																																																				PASS	0.507	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		10	71	10	71	---	---	---	---
PPIG	9360	broad.mit.edu	37	2	170488434	170488434	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:170488434A>T	ENST00000260970.3	+	11	1140	c.920A>T	c.(919-921)gAa>gTa	p.E307V	PPIG_ENST00000448752.2_Missense_Mutation_p.E307V|PPIG_ENST00000462903.1_Missense_Mutation_p.E307V|PPIG_ENST00000409714.3_Missense_Mutation_p.E292V|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	307					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.E307V(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	agagaaagggaaagagagTGG	0.328																																						uc002uez.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(919-921)GAA>GTA		peptidylprolyl isomerase G	L-Proline(DB00172)						36.0	33.0	34.0					2																	170488434		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170488434A>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.920A>T	2.37:g.170488434A>T	ENSP00000260970:p.Glu307Val					PPIG_uc010fpx.2_Missense_Mutation_p.E292V|PPIG_uc010fpy.2_Missense_Mutation_p.E300V|PPIG_uc002ufa.2_Missense_Mutation_p.E307V|PPIG_uc002ufb.2_Missense_Mutation_p.E307V|PPIG_uc002ufd.2_Missense_Mutation_p.E304V	p.E307V	NM_004792	NP_004783	Q13427	PPIG_HUMAN			11	1140	+			307					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.920A>T	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.856537	0.51376	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752	T;T;T;T;T	0.80738	2.12;1.74;2.11;-1.41;2.12	5.14	5.14	0.70334	.	0.355773	0.27340	N	0.019815	D	0.87366	0.6159	M	0.62723	1.935	0.53688	D	0.99997	D;P;P;D;D	0.76494	0.998;0.9;0.915;0.999;0.998	D;B;B;D;D	0.80764	0.994;0.291;0.236;0.991;0.99	D	0.86450	0.1772	10	0.36615	T	0.2	-3.0664	14.6258	0.68621	1.0:0.0:0.0:0.0	.	300;292;292;307;307	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	V	307;307;300;292;307;307	ENSP00000260970:E307V;ENSP00000408683:E300V;ENSP00000386245:E292V;ENSP00000435987:E307V;ENSP00000407083:E307V	ENSP00000260970:E307V	E	+	2	0	PPIG	170196680	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	5.045000	0.64220	1.929000	0.55896	0.377000	0.23210	GAA		PASS	0.328	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			10	43	10	43	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179599307	179599307	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:179599307C>G	ENST00000591111.1	-	50	14517	c.14293G>C	c.(14293-14295)Gag>Cag	p.E4765Q	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E5082Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E3838Q|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12146	Ig-like 28.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E3838Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGCAGGCTCAAGAGTTTTG	0.363																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11512-11514)GAG>CAG		titin isoform N2-A							84.0	83.0	83.0					2																	179599307		1828	4084	5912	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599307C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14293G>C	2.37:g.179599307C>G	ENSP00000465570:p.Glu4765Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E499Q	p.E3838Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		49	11736	-			4765					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11512G>C		.	.	.	.	.	.	.	.	.	.	C	12.51	1.961093	0.34565	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56702	0.2003	N	0.25789	0.76	0.80722	D	1	P	0.35192	0.489	B	0.30179	0.112	T	0.61197	-0.7111	9	0.87932	D	0	.	19.9731	0.97292	0.0:1.0:0.0:0.0	.	4765	Q8WZ42	TITIN_HUMAN	Q	3838	ENSP00000343764:E3838Q	ENSP00000343764:E3838Q	E	-	1	0	TTN	179307552	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.170000	0.50816	2.715000	0.92844	0.563000	0.77884	GAG		PASS	0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	137	24	137	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179600714	179600714	+	Missense_Mutation	SNP	C	C	A	rs376364888		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:179600714C>A	ENST00000591111.1	-	48	13732	c.13508G>T	c.(13507-13509)gGg>gTg	p.G4503V	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G4820V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G3576V|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12259	Ig-like 25.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G3576V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGGAGTCCCTGTCACTGT	0.453																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10726-10728)GGG>GTG		titin isoform N2-A							89.0	86.0	87.0					2																	179600714		1962	4146	6108	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600714C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13508G>T	2.37:g.179600714C>A	ENSP00000465570:p.Gly4503Val					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G237V	p.G3576V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		47	10951	-			4503					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.10727G>T		.	.	.	.	.	.	.	.	.	.	C	14.77	2.634056	0.47049	.	.	ENSG00000155657	ENST00000342992	T	0.79940	-1.32	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93648	0.7971	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94770	0.7944	9	0.87932	D	0	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	4503	Q8WZ42	TITIN_HUMAN	V	3576	ENSP00000343764:G3576V	ENSP00000343764:G3576V	G	-	2	0	TTN	179308959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	GGG		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	86	30	86	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179611982	179611982	+	Intron	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:179611982C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.E5049K|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTATCTTTCTCCTACCTCA	0.483																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15145-15147)GAA>AAA		titin isoform novex-3							60.0	63.0	62.0					2																	179611982		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611982C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5334G>A	2.37:g.179611982C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E5049K	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15369	-			1153					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15145G>A		.	.	.	.	.	.	.	.	.	.	C	17.46	3.394106	0.62066	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.60171	0.21	6.06	6.06	0.98353	.	.	.	.	.	T	0.68375	0.2994	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.60789	0.879	T	0.63756	-0.6565	9	0.28530	T	0.3	.	12.9848	0.58586	0.1613:0.8387:0.0:0.0	.	5049	Q8WZ42-6	.	K	5049;363	ENSP00000354117:E5049K	ENSP00000304714:E363K	E	-	1	0	TTN	179320227	0.995000	0.38212	0.979000	0.43373	0.719000	0.41307	3.710000	0.54860	2.882000	0.98803	0.655000	0.94253	GAA		PASS	0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	96	24	96	---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180817210	180817210	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:180817210C>G	ENST00000410053.3	-	17	2104	c.1805G>C	c.(1804-1806)aGa>aCa	p.R602T	CWC22_ENST00000295749.6_Missense_Mutation_p.R602T	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	602					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.R602T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ATCCTTTAATCTTGCATTAAG	0.358																																						uc010frh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1804-1806)AGA>ACA		CWC22 spliceosome-associated protein homolog							54.0	50.0	51.0					2																	180817210		1829	4069	5898	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180817210C>G		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1805G>C	2.37:g.180817210C>G	ENSP00000387006:p.Arg602Thr					CWC22_uc002uno.2_Missense_Mutation_p.R124T|CWC22_uc002unp.2_Missense_Mutation_p.R602T	p.R602T	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			17	2105	-			602					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.1805G>C	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671942	0.88348	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.38401	1.27;1.28;1.14	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73395	-0.3996	10	0.66056	D	0.02	-18.4894	18.6403	0.91393	0.0:1.0:0.0:0.0	.	602	Q9HCG8	CWC22_HUMAN	T	602	ENSP00000387006:R602T;ENSP00000295749:R602T;ENSP00000384159:R602T	ENSP00000295749:R602T	R	-	2	0	CWC22	180525455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.771000	0.85420	2.644000	0.89710	0.585000	0.79938	AGA		PASS	0.358	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		2	12	2	12	---	---	---	---
FAM171B	165215	broad.mit.edu	37	2	187626263	187626263	+	Silent	SNP	C	C	A	rs367923542		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:187626263C>A	ENST00000304698.5	+	8	1397	c.1194C>A	c.(1192-1194)ctC>ctA	p.L398L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	398						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.L398L(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTGAGGTCCTCAAGAGAGACC	0.358																																						uc002ups.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(3)|central_nervous_system(1)	10						c.(1192-1194)CTC>CTA		KIAA1946							137.0	147.0	143.0					2																	187626263		2199	4295	6494	SO:0001819	synonymous_variant	165215					integral to membrane	DNA binding	g.chr2:187626263C>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1194C>A	2.37:g.187626263C>A						FAM171B_uc002upr.1_Silent_p.L398L|FAM171B_uc002upt.2_5'Flank	p.L398L	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	1306	+			398			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	c.1194C>A	CCDS33347.1																																																																																				PASS	0.358	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		59	270	59	270	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197870509	197870509	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:197870509C>T	ENST00000328737.2	-	21	2257	c.2181G>A	c.(2179-2181)ctG>ctA	p.L727L	ANKRD44_ENST00000337207.5_Silent_p.L727L|ANKRD44_ENST00000282272.8_Silent_p.L744L|ANKRD44_ENST00000450567.1_Silent_p.L727L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	752								p.L567L(1)|p.L727L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCAGCTCGCTCAGCCACGTGG	0.527																																						uc002uua.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(2179-2181)CTG>CTA		ankyrin repeat domain 44							148.0	144.0	145.0					2																	197870509		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197870509C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2181G>A	2.37:g.197870509C>T						ANKRD44_uc002utz.3_Silent_p.L459L	p.L727L	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		21	2258	-			752			ANK 22.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.2181G>A																																																																																					PASS	0.527	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		54	296	54	296	---	---	---	---
RQCD1	9125	broad.mit.edu	37	2	219445385	219445385	+	Silent	SNP	A	A	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:219445385A>T	ENST00000273064.6	+	2	501	c.126A>T	c.(124-126)ctA>ctT	p.L42L	RQCD1_ENST00000542068.1_Silent_p.L42L|RQCD1_ENST00000295701.5_Silent_p.L42L|RQCD1_ENST00000509807.2_Silent_p.L42L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	42					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L42L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTGGAGCTAAGTAAGAAGC	0.463																																						uc010zkh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(124-126)CTA>CTT		RCD1 required for cell differentiation1 homolog							195.0	174.0	181.0					2																	219445385		2203	4300	6503	SO:0001819	synonymous_variant	9125				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr2:219445385A>T	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.126A>T	2.37:g.219445385A>T						RQCD1_uc002vih.1_Silent_p.L42L|RQCD1_uc010zki.1_Silent_p.L42L	p.L42L	NM_005444	NP_005435	Q92600	RCD1_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	126	+		Renal(207;0.0915)	42					B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Silent	SNP	ENST00000273064.6	37	c.126A>T	CCDS33379.1																																																																																				PASS	0.463	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		20	103	20	103	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220337643	220337643	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:220337643C>T	ENST00000312358.7	+	16	4104	c.3972C>T	c.(3970-3972)caC>caT	p.H1324H	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1324	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H1324H(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGTGCAGCACCAGGTGCTGG	0.667																																						uc010fwg.2																			1	Substitution - coding silent(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(3970-3972)CAC>CAT		SPEG complex locus							36.0	39.0	38.0					2																	220337643		2028	4181	6209	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220337643C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3972C>T	2.37:g.220337643C>T							p.H1324H	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	16	3972	+		Renal(207;0.0183)	1324			Fibronectin type-III 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.3972C>T	CCDS42824.1																																																																																				PASS	0.667	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		8	126	8	126	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225729638	225729638	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:225729638G>C	ENST00000258390.7	-	12	1491	c.1424C>G	c.(1423-1425)tCa>tGa	p.S475*	DOCK10_ENST00000409592.3_Nonsense_Mutation_p.S469*	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	475					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S475*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGTTCTTCTGATTGTCTTGG	0.448																																						uc010fwz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1423-1425)TCA>TGA		dedicator of cytokinesis 10							200.0	190.0	193.0					2																	225729638		1932	4147	6079	SO:0001587	stop_gained	55619						GTP binding	g.chr2:225729638G>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1424C>G	2.37:g.225729638G>C	ENSP00000258390:p.Ser475*					DOCK10_uc002vob.2_Nonsense_Mutation_p.S469*|DOCK10_uc002vod.1_Nonsense_Mutation_p.S475*	p.S475*	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	12	1663	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	475					B3FL70|O75178|Q9NW06|Q9NXI8	Nonsense_Mutation	SNP	ENST00000258390.7	37	c.1424C>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	37	6.370938	0.97511	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	.	.	.	5.77	4.89	0.63831	.	0.379510	0.24518	N	0.037822	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.5762	0.45229	0.1627:0.0:0.8373:0.0	.	.	.	.	X	469;475	.	ENSP00000258390:S475X	S	-	2	0	DOCK10	225437882	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.121000	0.41977	1.583000	0.49898	0.650000	0.86243	TCA		PASS	0.448	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			33	367	33	367	---	---	---	---
SLC16A14	151473	broad.mit.edu	37	2	230923839	230923839	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr2:230923839G>C	ENST00000295190.4	-	2	688	c.230C>G	c.(229-231)tCc>tGc	p.S77C	RNY4P19_ENST00000362530.1_RNA	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.S77C(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CATGCTGAGGGAGCTGACCCA	0.527																																						uc002vqd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(229-231)TCC>TGC		solute carrier family 16 (monocarboxylic acid							78.0	80.0	80.0					2																	230923839		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230923839G>C	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.230C>G	2.37:g.230923839G>C	ENSP00000295190:p.Ser77Cys					FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.S77C|SLC16A14_uc002vqf.2_Missense_Mutation_p.S77C	p.S77C	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	2	593	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	77			Helical; (Potential).		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.230C>G	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934724	0.92458	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.61627	0.09;0.09;0.09	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000020	T	0.82093	0.4962	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.993;1.0	D	0.85555	0.1224	10	0.87932	D	0	.	19.3562	0.94414	0.0:0.0:1.0:0.0	.	77;77	E7EMG7;Q7RTX9	.;MOT14_HUMAN	C	77	ENSP00000295190:S77C;ENSP00000400352:S77C;ENSP00000395775:S77C	ENSP00000295190:S77C	S	-	2	0	SLC16A14	230632083	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.980000	0.88113	2.804000	0.96469	0.655000	0.94253	TCC		PASS	0.527	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		8	102	8	102	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1363468	1363468	+	Missense_Mutation	SNP	C	C	G	rs544819651		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:1363468C>G	ENST00000446702.2	+	8	1523	c.896C>G	c.(895-897)gCa>gGa	p.A299G	CNTN6_ENST00000539053.1_Missense_Mutation_p.A227G|CNTN6_ENST00000350110.2_Missense_Mutation_p.A299G			Q9UQ52	CNTN6_HUMAN	contactin 6	299	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A299G(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAGTGCATTGCAAGCAACCTT	0.408																																						uc003boz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(895-897)GCA>GGA		contactin 6 precursor							116.0	121.0	119.0					3																	1363468		2203	4299	6502	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1363468C>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.896C>G	3.37:g.1363468C>G	ENSP00000407822:p.Ala299Gly					CNTN6_uc011asj.1_Missense_Mutation_p.A227G|CNTN6_uc003bpa.2_Missense_Mutation_p.A299G	p.A299G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	8	1163	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	299			Ig-like C2-type 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.896C>G	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979312	0.92982	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.76709	-1.04;-1.04;-1.04	5.9	5.9	0.94986	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000011	D	0.90253	0.6952	M	0.88842	2.985	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	D	0.91185	0.4979	10	0.72032	D	0.01	.	18.4595	0.90734	0.0:1.0:0.0:0.0	.	299	Q9UQ52	CNTN6_HUMAN	G	299;227;299	ENSP00000407822:A299G;ENSP00000442791:A227G;ENSP00000341882:A299G	ENSP00000341882:A299G	A	+	2	0	CNTN6	1338468	1.000000	0.71417	0.979000	0.43373	0.977000	0.68977	7.080000	0.76837	2.788000	0.95919	0.650000	0.86243	GCA		PASS	0.408	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		32	161	32	161	---	---	---	---
WNT7A	7476	broad.mit.edu	37	3	13921278	13921278	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:13921278G>C	ENST00000285018.4	-	1	340	c.36C>G	c.(34-36)ctC>ctG	p.L12L	WNT7A_ENST00000497808.1_5'Flank	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	12					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.L12L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGCTGAGAAAGAGGTGGCCCA	0.721																																						uc003bye.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(34-36)CTC>CTG		wingless-type MMTV integration site family,							47.0	47.0	47.0					3																	13921278		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13921278G>C	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.36C>G	3.37:g.13921278G>C							p.L12L	NM_004625	NP_004616	O00755	WNT7A_HUMAN			1	341	-			12					Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.36C>G	CCDS2616.1																																																																																				PASS	0.721	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		14	50	14	50	---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49161171	49161171	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:49161171C>G	ENST00000418109.1	-	25	3951	c.3787G>C	c.(3787-3789)Gag>Cag	p.E1263Q	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.E1263Q|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1263	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E1263Q(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCAGCTCCTCTGTGGCCTCC	0.617																																						uc003cwe.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3787-3789)GAG>CAG		laminin, beta 2 precursor							38.0	41.0	40.0					3																	49161171		2202	4299	6501	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49161171C>G		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3787G>C	3.37:g.49161171C>G	ENSP00000388325:p.Glu1263Gln					USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	p.E1263Q	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	24	4086	-			1263			Domain II.|Potential.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.3787G>C	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831137	0.50845	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.35421	1.31;1.31	5.69	4.82	0.62117	.	0.050541	0.85682	D	0.000000	T	0.35422	0.0931	L	0.56769	1.78	0.58432	D	0.999999	B	0.32573	0.376	B	0.30943	0.122	T	0.11542	-1.0583	10	0.33141	T	0.24	.	14.7293	0.69368	0.0:0.9303:0.0:0.0697	.	1263	P55268	LAMB2_HUMAN	Q	1263;1263;30	ENSP00000388325:E1263Q;ENSP00000307156:E1263Q	ENSP00000307156:E1263Q	E	-	1	0	LAMB2	49136175	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.007000	0.57093	1.408000	0.46895	0.561000	0.74099	GAG		PASS	0.617	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		36	106	36	106	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65425633	65425633	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:65425633C>T	ENST00000497477.2	-	9	1190	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.K397K|MAGI1_ENST00000402939.2_Silent_p.K397K|MAGI1_ENST00000330909.8_Silent_p.K397K			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	397					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.K397K(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAAGCTGCTTCTTCCGTTTGG	0.517											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003dmn.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(1189-1191)AAG>AAA		membrane associated guanylate kinase, WW and PDZ							145.0	119.0	128.0					3																	65425633		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425633C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1191G>A	3.37:g.65425633C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_uc003dmm.2_Silent_p.K397K|MAGI1_uc003dmo.2_Silent_p.K397K|MAGI1_uc003dmp.2_Silent_p.K397K|MAGI1_uc010hny.2_Silent_p.K282K	p.K397K	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1717	-		Lung NSC(201;0.0016)	397					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1191G>A		.	.	.	.	.	.	.	.	.	.	C	10.55	1.382941	0.25031	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.86	4.99	0.66335	.	.	.	.	.	T	0.70692	0.3253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70099	-0.4965	4	.	.	.	-28.091	14.7788	0.69749	0.0:0.9312:0.0:0.0688	.	.	.	.	K	278	.	.	R	-	2	0	MAGI1	65400673	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.445000	0.35079	1.490000	0.48466	0.650000	0.86243	AGA		PASS	0.517	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		21	87	21	87	---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002374	98002374	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:98002374A>G	ENST00000355273.2	+	1	643	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T215A(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCAGGTATTCACCATTGTGAC	0.348																																						uc003dsj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(643-645)ACC>GCC		olfactory receptor, family 5, subfamily H,							91.0	92.0	92.0					3																	98002374		2203	4299	6502	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002374A>G		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.643A>G	3.37:g.98002374A>G	ENSP00000347418:p.Thr215Ala						p.T215A	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	643	+			215			Helical; Name=5; (Potential).		Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.643A>G	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.922647	0.33908	.	.	ENSG00000197938	ENST00000355273	T	0.37058	1.22	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	U	0.000995	T	0.41994	0.1183	L	0.54908	1.71	0.09310	N	1	D	0.55385	0.971	P	0.57244	0.816	T	0.13176	-1.0519	10	0.28530	T	0.3	.	6.3019	0.21117	0.7433:0.2567:0.0:0.0	.	215	Q8NGV7	OR5H2_HUMAN	A	215	ENSP00000347418:T215A	ENSP00000347418:T215A	T	+	1	0	OR5H2	99485064	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	0.031000	0.13710	1.387000	0.46486	0.338000	0.21704	ACC		PASS	0.348	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			18	76	18	76	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108175640	108175640	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:108175640C>G	ENST00000273353.3	-	20	2227	c.2171G>C	c.(2170-2172)cGa>cCa	p.R724P	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	724	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R724P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATACTGCAGTCGGTTTGGAAA	0.443																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(2170-2172)CGA>CCA		myosin, heavy polypeptide 15							160.0	149.0	153.0					3																	108175640		1857	4106	5963	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108175640C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2171G>C	3.37:g.108175640C>G	ENSP00000273353:p.Arg724Pro						p.R724P	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			20	2228	-			724			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.2171G>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211116	0.39102	.	.	ENSG00000144821	ENST00000273353	D	0.92647	-3.08	5.44	-0.145	0.13436	Myosin head, motor domain (2);	.	.	.	.	D	0.97269	0.9107	H	0.99582	4.64	0.29724	N	0.838441	D	0.69078	0.997	D	0.74023	0.982	D	0.91731	0.5396	9	0.87932	D	0	.	6.762	0.23546	0.0:0.6152:0.1173:0.2675	.	724	Q9Y2K3	MYH15_HUMAN	P	724	ENSP00000273353:R724P	ENSP00000273353:R724P	R	-	2	0	MYH15	109658330	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	0.377000	0.20552	-0.359000	0.08150	-0.218000	0.12543	CGA		PASS	0.443	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		62	214	62	214	---	---	---	---
C3orf27	23434	broad.mit.edu	37	3	128292266	128292266	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:128292266G>C	ENST00000356020.2	-	3	1273	c.307C>G	c.(307-309)Ctg>Gtg	p.L103V		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	103								p.L103V(1)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TGGCACAGCAGAGTCCTGGCA	0.577																																						uc003ekq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)CTG>GTG		putative GR6 protein							70.0	74.0	73.0					3																	128292266		2203	4300	6503	SO:0001583	missense	23434							g.chr3:128292266G>C	AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.307C>G	3.37:g.128292266G>C	ENSP00000348302:p.Leu103Val						p.L103V	NM_007354	NP_031380	O15544	GR6_HUMAN		GBM - Glioblastoma multiforme(114;0.176)	3	1274	-			103						Missense_Mutation	SNP	ENST00000356020.2	37	c.307C>G	CCDS3050.1	.	.	.	.	.	.	.	.	.	.	G	8.149	0.786900	0.16189	.	.	ENSG00000198685	ENST00000356020	.	.	.	2.82	0.0989	0.14500	.	.	.	.	.	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.53146	0.719	T	0.11941	-1.0567	8	0.87932	D	0	.	4.485	0.11785	0.1483:0.4404:0.4113:0.0	.	103	O15544	GR6_HUMAN	V	103	.	ENSP00000348302:L103V	L	-	1	2	C3orf27	129774956	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.037000	0.13840	-0.004000	0.14419	0.491000	0.48974	CTG		PASS	0.577	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356924.1	NM_007354		34	170	34	170	---	---	---	---
NUDT16	131870	broad.mit.edu	37	3	131100970	131100970	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:131100970G>A	ENST00000521288.1	+	2	250	c.219G>A	c.(217-219)ctG>ctA	p.L73L	RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000537561.1_Silent_p.L27L|NUDT16_ENST00000502852.1_Silent_p.L73L|NUDT16_ENST00000359850.3_Silent_p.L40L			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	73	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)	p.L40L(1)		large_intestine(1)|lung(6)	7						AGGACGGGCTGAACCGCGAGC	0.692																																						uc003eof.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(118-120)CTG>CTA		nudix-type motif 16							30.0	34.0	32.0					3																	131100970		2202	4298	6500	SO:0001819	synonymous_variant	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131100970G>A	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.219G>A	3.37:g.131100970G>A						uc003eoc.1_5'Flank|NUDT16_uc011bln.1_Silent_p.L27L|NUDT16_uc003eog.1_Silent_p.L40L	p.L40L	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN			2	161	+			73			Nudix box.|Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Silent	SNP	ENST00000521288.1	37	c.120G>A	CCDS3070.2																																																																																				PASS	0.692	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		21	136	21	136	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147114180	147114180	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:147114180C>A	ENST00000383075.3	-	3	659	c.147G>T	c.(145-147)gaG>gaT	p.E49D	ZIC4_ENST00000525172.2_Missense_Mutation_p.E99D|ZIC4_ENST00000473123.1_Missense_Mutation_p.E49D|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.E49D|ZIC4_ENST00000425731.3_Missense_Mutation_p.E87D	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	49						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E49D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CCTGGGGAGGCTCCTCGTGGA	0.687																																						uc003ewd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(145-147)GAG>GAT		zinc finger protein of the cerebellum 4							15.0	20.0	18.0					3																	147114180		1913	4107	6020	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114180C>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.147G>T	3.37:g.147114180C>A	ENSP00000372553:p.Glu49Asp					ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Missense_Mutation_p.E99D	p.E49D	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	420	-			49					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.147G>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674354	0.47781	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748;ENST00000484586;ENST00000463250	T;T;T;T;T;T	0.11930	2.88;2.83;2.81;2.88;2.88;2.73	5.01	3.16	0.36331	.	0.539313	0.15450	N	0.261720	T	0.08268	0.0206	N	0.19112	0.55	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.17531	-1.0366	10	0.59425	D	0.04	.	4.5407	0.12056	0.1571:0.6054:0.0:0.2375	.	99;49	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	D	49;87;99;49;49;49;49;49	ENSP00000372553:E49D;ENSP00000397695:E87D;ENSP00000435509:E99D;ENSP00000417855:E49D;ENSP00000420775:E49D;ENSP00000420627:E49D	ENSP00000372553:E49D	E	-	3	2	ZIC4	148596870	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.452000	0.44961	0.479000	0.27511	0.561000	0.74099	GAG		PASS	0.687	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			21	73	21	73	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151072956	151072956	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:151072956C>G	ENST00000474524.1	+	16	2379	c.2341C>G	c.(2341-2343)Cca>Gca	p.P781A	MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.P641A	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	781						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P781A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAGACATTTCCAACACTGGA	0.378																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(2341-2343)CCA>GCA		mediator of RNA polymerase II transcription,							109.0	109.0	109.0					3																	151072956		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151072956C>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2341C>G	3.37:g.151072956C>G	ENSP00000417235:p.Pro781Ala					MED12L_uc011bnz.1_Missense_Mutation_p.P641A|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_5'Flank	p.P781A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		16	2379	+			781					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2341C>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815731	0.70912	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.80566	-1.39;-1.39	5.35	5.35	0.76521	.	0.054482	0.85682	D	0.000000	D	0.84492	0.5484	L	0.47716	1.5	0.80722	D	1	P;D	0.55172	0.917;0.97	P;P	0.55345	0.774;0.607	D	0.85956	0.1467	10	0.87932	D	0	-17.3617	19.0185	0.92903	0.0:1.0:0.0:0.0	.	641;781	F8WAE6;Q86YW9	.;MD12L_HUMAN	A	781;641	ENSP00000417235:P781A;ENSP00000273432:P641A	ENSP00000273432:P641A	P	+	1	0	MED12L	152555646	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	7.048000	0.76606	2.656000	0.90262	0.650000	0.86243	CCA		PASS	0.378	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		19	130	19	130	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169644860	169644860	+	Silent	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:169644860G>T	ENST00000428432.2	+	6	1199	c.810G>T	c.(808-810)ctG>ctT	p.L270L	SAMD7_ENST00000335556.3_Silent_p.L270L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	270								p.L270L(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CCACTACCCTGAAAGCAAAGG	0.532																																						uc003fgd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(808-810)CTG>CTT		sterile alpha motif domain containing 7							66.0	65.0	65.0					3																	169644860		2203	4300	6503	SO:0001819	synonymous_variant	344658							g.chr3:169644860G>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.810G>T	3.37:g.169644860G>T						SAMD7_uc003fge.2_Silent_p.L270L|SAMD7_uc011bpo.1_Silent_p.L171L	p.L270L	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	1077	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		270						Silent	SNP	ENST00000428432.2	37	c.810G>T	CCDS3209.1																																																																																				PASS	0.532	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		5	224	5	224	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1582	Substitution - Missense(1582)	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3139-3141)CAT>CGT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		PASS	0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			50	105	50	105	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183041140	183041140	+	Splice_Site	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:183041140C>A	ENST00000328913.3	-	6	784		c.e6-1		MCF2L2_ENST00000414362.2_Splice_Site|MCF2L2_ENST00000473233.1_Splice_Site|MCF2L2_ENST00000447025.2_Splice_Site	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2								Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCATGATGATCTGTAAGGTAA	0.343																																						uc003fli.1																			1	Unknown(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.e6-1		Rho family guanine-nucleotide exchange factor							91.0	94.0	93.0					3																	183041140		2203	4300	6503	SO:0001630	splice_region_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183041140C>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.487-1G>T	3.37:g.183041140C>A						MCF2L2_uc003flj.1_Splice_Site_p.I163_splice|MCF2L2_uc003flp.1_Splice_Site_p.I198_splice	p.I163_splice	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		6	577	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)							O94942|Q6P2B8|Q6ZVJ5|Q8N318	Splice_Site	SNP	ENST00000328913.3	37	c.487_splice	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548898	0.65311	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	.	.	.	5.56	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0232	0.58800	0.0:0.921:0.0:0.079	.	.	.	.	.	-1	.	.	.	-	.	.	MCF2L2	184523834	1.000000	0.71417	0.774000	0.31636	0.785000	0.44390	5.610000	0.67668	1.341000	0.45600	0.655000	0.94253	.		PASS	0.343	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	Intron	38	148	38	148	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192516700	192516700	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr3:192516700G>C	ENST00000392452.2	-	2	1271	c.951C>G	c.(949-951)atC>atG	p.I317M		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	317							protein complex binding (GO:0032403)	p.I315M(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCAGTTTAATGATGATGGCTT	0.557																																						uc011bsp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(949-951)ATC>ATG		hypothetical protein LOC151963							40.0	41.0	41.0					3																	192516700		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516700G>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.951C>G	3.37:g.192516700G>C	ENSP00000376246:p.Ile317Met						p.I317M	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1272	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		317					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.951C>G	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	8.100	0.776417	0.16051	.	.	ENSG00000180611	ENST00000392452	T	0.08370	3.1	5.42	4.55	0.56014	.	0.128902	0.64402	D	0.000019	T	0.06508	0.0167	N	0.19112	0.55	0.52501	D	0.999957	B	0.15719	0.014	B	0.14578	0.011	T	0.32241	-0.9914	10	0.30078	T	0.28	.	13.2241	0.59905	0.0758:0.0:0.9242:0.0	.	317	Q8IYB1	M21D2_HUMAN	M	317	ENSP00000376246:I317M	ENSP00000376246:I317M	I	-	3	3	MB21D2	193999394	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.786000	0.55431	1.297000	0.44761	-0.136000	0.14681	ATC		PASS	0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		20	92	20	92	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3230464	3230464	+	Silent	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:3230464C>G	ENST00000355072.5	+	58	8116	c.7971C>G	c.(7969-7971)gtC>gtG	p.V2657V	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2657					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.V2657V(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGTCTCCAGTCAACTCCAGGT	0.493																																						uc011bvq.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(7975-7977)GTC>GTG		huntingtin							84.0	86.0	86.0					4																	3230464		1964	4164	6128	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3230464C>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7971C>G	4.37:g.3230464C>G							p.V2659V	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	59	8122	+		all_epithelial(65;0.18)	2657					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.7977C>G	CCDS43206.1																																																																																				PASS	0.493	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		24	114	24	114	---	---	---	---
ACOX3	8310	broad.mit.edu	37	4	8416093	8416093	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:8416093C>A	ENST00000356406.5	-	5	546	c.469G>T	c.(469-471)Gct>Tct	p.A157S	ACOX3_ENST00000413009.2_Missense_Mutation_p.A157S|ACOX3_ENST00000503233.1_Missense_Mutation_p.A157S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	157					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.A157S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCGGTCAGAGCAAAACATCCA	0.468																																						uc010idk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(469-471)GCT>TCT		acyl-Coenzyme A oxidase 3 isoform a							131.0	116.0	121.0					4																	8416093		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8416093C>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.469G>T	4.37:g.8416093C>A	ENSP00000348775:p.Ala157Ser					ACOX3_uc003glc.3_Missense_Mutation_p.A157S|ACOX3_uc003gld.3_Missense_Mutation_p.A157S|ACOX3_uc003gle.1_Missense_Mutation_p.A62S	p.A157S	NM_003501	NP_003492	O15254	ACOX3_HUMAN			5	614	-			157					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.469G>T	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353017	0.61293	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233;ENST00000514423	D;D;D;D	0.99418	-4.35;-4.35;-4.35;-5.87	4.14	4.14	0.48551	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.066884	0.64402	D	0.000012	D	0.99236	0.9734	M	0.64567	1.98	0.58432	D	0.999999	D;D;D	0.59767	0.986;0.982;0.986	D;P;D	0.63283	0.913;0.858;0.913	D	0.98781	1.0732	10	0.66056	D	0.02	-16.2372	15.3717	0.74570	0.0:1.0:0.0:0.0	.	157;157;157	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	S	157;157;157;62	ENSP00000413994:A157S;ENSP00000348775:A157S;ENSP00000421625:A157S;ENSP00000427321:A62S	ENSP00000348775:A157S	A	-	1	0	ACOX3	8466993	1.000000	0.71417	0.932000	0.37286	0.757000	0.42996	4.386000	0.59620	2.155000	0.67459	0.650000	0.86243	GCT		PASS	0.468	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			4	117	4	117	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13604368	13604368	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:13604368G>C	ENST00000040738.5	-	10	4291	c.4156C>G	c.(4156-4158)Ctt>Gtt	p.L1386V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1386						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L1386V(1)									TTACTTCCAAGAGGCATGATT	0.408																																						uc003gmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(4156-4158)CTT>GTT		biorientation of chromosomes in cell division							140.0	134.0	136.0					4																	13604368		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13604368G>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4156C>G	4.37:g.13604368G>C	ENSP00000040738:p.Leu1386Val					BOD1L_uc010idr.1_Missense_Mutation_p.L723V	p.L1386V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	4273	-			1386					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4156C>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	3.140	-0.176493	0.06380	.	.	ENSG00000038219	ENST00000040738	T	0.07688	3.17	5.45	-0.661	0.11417	.	1.277740	0.05663	N	0.587209	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.43475	-0.9389	10	0.28530	T	0.3	0.1582	3.7038	0.08392	0.1374:0.447:0.2049:0.2107	.	1386	Q8NFC6	BOD1L_HUMAN	V	1386	ENSP00000040738:L1386V	ENSP00000040738:L1386V	L	-	1	0	BOD1L	13213466	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	0.475000	0.22164	-0.243000	0.09653	-0.119000	0.15052	CTT		PASS	0.408	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		4	138	4	138	---	---	---	---
C1QTNF7	114905	broad.mit.edu	37	4	15437466	15437466	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:15437466C>T	ENST00000444304.2	+	2	425	c.99C>T	c.(97-99)atC>atT	p.I33I	C1QTNF7_ENST00000429690.1_Silent_p.I33I|C1QTNF7_ENST00000295297.4_Silent_p.I40I			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	33					protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.I33I(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCAGGTATATCTGCAGCATTC	0.542																																						uc011bxb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(97-99)ATC>ATT		C1q and tumor necrosis factor related protein 7							69.0	70.0	70.0					4																	15437466		2203	4300	6503	SO:0001819	synonymous_variant	114905					collagen		g.chr4:15437466C>T	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.99C>T	4.37:g.15437466C>T						C1QTNF7_uc003gno.2_Silent_p.I40I|C1QTNF7_uc003gnp.2_Silent_p.I33I	p.I33I	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN			2	326	+			33					B2RBT3|J3KPW3	Silent	SNP	ENST00000444304.2	37	c.99C>T	CCDS3414.1																																																																																				PASS	0.542	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			18	60	18	60	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74005638	74005638	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:74005638G>T	ENST00000358602.4	-	15	2811	c.2695C>A	c.(2695-2697)Cag>Aag	p.Q899K	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Q786K|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	899	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q899K(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGTTGCTGAAGTTGAATT	0.438																																						uc003hgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(2695-2697)CAG>AAG		ankyrin repeat domain protein 17 isoform a							171.0	159.0	163.0					4																	74005638		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74005638G>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2695C>A	4.37:g.74005638G>T	ENSP00000351416:p.Gln899Lys					ANKRD17_uc003hgo.2_Missense_Mutation_p.Q786K|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.Q899K|ANKRD17_uc011cbd.1_Missense_Mutation_p.Q464K	p.Q899K	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	2812	-	Breast(15;0.000295)		899			Gln-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.2695C>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	8.581	0.882256	0.17467	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	T;T	0.66280	1.62;-0.2	5.13	5.13	0.70059	Ankyrin repeat-containing domain (1);	0.000000	0.64402	D	0.000009	T	0.43964	0.1271	N	0.14661	0.345	0.80722	D	1	B;B;B;P	0.43231	0.062;0.018;0.01;0.801	B;B;B;B	0.37780	0.014;0.019;0.008;0.258	T	0.40098	-0.9581	10	0.09590	T	0.72	.	19.1279	0.93393	0.0:0.0:1.0:0.0	.	420;899;899;786	B4DR08;O75179-2;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	899;899;786;899	ENSP00000351416:Q899K;ENSP00000427151:Q786K	ENSP00000351416:Q899K	Q	-	1	0	ANKRD17	74224502	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.142000	0.58044	2.824000	0.97209	0.655000	0.94253	CAG		PASS	0.438	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		32	210	32	210	---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76805905	76805905	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:76805905G>A	ENST00000286719.7	-	8	944	c.588C>T	c.(586-588)ctC>ctT	p.L196L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	196	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.L196L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTGGCGACGGGAGGCCATTCT	0.433																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(586-588)CTC>CTT		serine/threonine protein phosphatase with							163.0	151.0	155.0					4																	76805905		2203	4300	6503	SO:0001819	synonymous_variant	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76805905G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.588C>T	4.37:g.76805905G>A						PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.L196L	p.L196L	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		8	945	-			196			Catalytic.		O14831	Silent	SNP	ENST00000286719.7	37	c.588C>T	CCDS34013.1																																																																																				PASS	0.433	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		55	297	55	297	---	---	---	---
BMP2K	55589	broad.mit.edu	37	4	79782588	79782588	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:79782588G>A	ENST00000335016.5	+	9	1199	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	BMP2K_ENST00000502871.1_Missense_Mutation_p.E345K	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	345					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.E345K(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GACTGCTAGTGAAGCAGCTGC	0.328																																						uc003hlk.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1033-1035)GAA>AAA		BMP-2 inducible kinase isoform a							56.0	55.0	55.0					4																	79782588		2202	4300	6502	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79782588G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1033G>A	4.37:g.79782588G>A	ENSP00000334836:p.Glu345Lys					BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.E345K	p.E345K	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			9	1199	+			345					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1033G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595519	0.96602	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	D;T	0.83837	-1.77;-0.81	5.82	5.82	0.92795	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	M	0.72353	2.195	0.80722	D	1	P;P	0.45957	0.869;0.609	P;B	0.49192	0.602;0.342	D	0.87008	0.2121	10	0.49607	T	0.09	-19.5904	19.7037	0.96065	0.0:0.0:1.0:0.0	.	345;345	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	K	345;345;359	ENSP00000421768:E345K;ENSP00000334836:E345K	ENSP00000264889:E359K	E	+	1	0	BMP2K	80001612	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.034000	0.76511	2.756000	0.94617	0.563000	0.77884	GAA		PASS	0.328	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		5	23	5	23	---	---	---	---
PPM1K	152926	broad.mit.edu	37	4	89199700	89199700	+	Silent	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:89199700A>G	ENST00000608933.1	-	2	425	c.36T>C	c.(34-36)agT>agC	p.S12S	PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000295908.7_Silent_p.S12S|PPM1K_ENST00000514204.1_Silent_p.S12S|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000315194.4_Silent_p.S12S	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	12					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.S12S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GGTTCCCACCACTTCTGACCA	0.517																																						uc003hrm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)AGT>AGC		protein phosphatase 1K (PP2C domain containing)							53.0	51.0	52.0					4																	89199700		2203	4300	6503	SO:0001819	synonymous_variant	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89199700A>G	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.36T>C	4.37:g.89199700A>G						PPM1K_uc010ikp.1_Silent_p.S12S|PPM1K_uc003hrn.2_Silent_p.S12S	p.S12S	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	2	426	-		Hepatocellular(203;0.114)	12					B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Silent	SNP	ENST00000608933.1	37	c.36T>C	CCDS3629.1																																																																																				PASS	0.517	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		12	68	12	68	---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96761311	96761311	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:96761311G>A	ENST00000295266.4	+	1	73	c.10G>A	c.(10-12)Gcc>Acc	p.A4T		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	4					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.A4T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TATGCTGGCCGCCTTCATCTC	0.587																																						uc003htr.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(10-12)GCC>ACC		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						40.0	39.0	39.0					4																	96761311		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761311G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.10G>A	4.37:g.96761311G>A	ENSP00000295266:p.Ala4Thr						p.A4T	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	73	+		Hepatocellular(203;0.114)	4					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.10G>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330879	0.24167	.	.	ENSG00000163114	ENST00000295266	D	0.97378	-4.36	4.16	0.276	0.15663	.	0.382832	0.29335	N	0.012459	D	0.90215	0.6941	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.12156	0.007	T	0.79766	-0.1665	10	0.23891	T	0.37	.	3.1427	0.06461	0.3164:0.0:0.4956:0.188	.	4	P29803	ODPAT_HUMAN	T	4	ENSP00000295266:A4T	ENSP00000295266:A4T	A	+	1	0	PDHA2	96980334	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.393000	0.20817	0.122000	0.18314	0.467000	0.42956	GCC		PASS	0.587	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			6	57	6	57	---	---	---	---
BANK1	55024	broad.mit.edu	37	4	102965044	102965044	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:102965044G>A	ENST00000322953.4	+	11	2223	c.1949G>A	c.(1948-1950)tGt>tAt	p.C650Y	BANK1_ENST00000508653.1_Missense_Mutation_p.C517Y|BANK1_ENST00000428908.1_Missense_Mutation_p.C517Y|BANK1_ENST00000504592.1_Missense_Mutation_p.C635Y|BANK1_ENST00000444316.2_Missense_Mutation_p.C620Y	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	650			C -> R (in dbSNP:rs3113676). {ECO:0000269|PubMed:11782428, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:18204447}.		B cell activation (GO:0042113)			p.C650Y(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GACAAGTTCTGTGGTCTTCCT	0.313																																						uc003hvy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1948-1950)TGT>TAT		B-cell scaffold protein with ankyrin repeats 1							130.0	137.0	134.0					4																	102965044		2203	4299	6502	SO:0001583	missense	55024				B cell activation			g.chr4:102965044G>A	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1949G>A	4.37:g.102965044G>A	ENSP00000320509:p.Cys650Tyr					BANK1_uc003hvx.3_Missense_Mutation_p.C635Y|BANK1_uc010ill.2_Missense_Mutation_p.C517Y|BANK1_uc003hvz.3_Missense_Mutation_p.C620Y	p.C650Y	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	11	2223	+		Hepatocellular(203;0.217)	650					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.1949G>A	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	0.091	-1.166602	0.01660	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.4	3.01	0.34805	.	0.652411	0.14651	N	0.306562	T	0.20292	0.0488	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.29761	-1.0001	10	0.02654	T	1	.	6.5725	0.22547	0.8036:0.0:0.1964:0.0	.	517;650;635	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	Y	635;650;517;517;620	ENSP00000421443:C635Y;ENSP00000320509:C650Y;ENSP00000412748:C517Y;ENSP00000422314:C517Y;ENSP00000388817:C620Y	ENSP00000320509:C650Y	C	+	2	0	BANK1	103184067	0.009000	0.17119	0.006000	0.13384	0.393000	0.30537	2.208000	0.42797	0.376000	0.24707	-0.339000	0.08088	TGT		PASS	0.313	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		33	139	33	139	---	---	---	---
SLC9B2	133308	broad.mit.edu	37	4	103971519	103971519	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:103971519G>T	ENST00000394785.3	-	5	1094	c.463C>A	c.(463-465)Ctc>Atc	p.L155I	SLC9B2_ENST00000503103.1_Missense_Mutation_p.L98I|SLC9B2_ENST00000362026.3_Missense_Mutation_p.L155I|SLC9B2_ENST00000503230.1_Missense_Mutation_p.L98I|SLC9B2_ENST00000339611.4_Missense_Mutation_p.L155I	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	155					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.L155I(2)									TTTCTGATGAGAAACCCTGCA	0.368																																						uc003hwx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(463-465)CTC>ATC		Na+/H+ exchanger domain containing 2							87.0	69.0	75.0					4																	103971519		2203	4300	6503	SO:0001583	missense	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103971519G>T	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.463C>A	4.37:g.103971519G>T	ENSP00000378265:p.Leu155Ile					NHEDC2_uc010iln.1_Missense_Mutation_p.L7I|NHEDC2_uc003hwy.2_Missense_Mutation_p.L155I|NHEDC2_uc011cew.1_Missense_Mutation_p.L98I|NHEDC2_uc011cex.1_Missense_Mutation_p.L98I|NHEDC2_uc011cey.1_Missense_Mutation_p.L98I	p.L155I	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	5	1335	-			155			Helical; (Potential).		B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	ENST00000394785.3	37	c.463C>A	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.997097	0.35226	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503103;ENST00000503230	T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24	5.03	4.14	0.48551	.	0.076933	0.52532	D	0.000062	T	0.16854	0.0405	L	0.35414	1.06	0.42547	D	0.993095	P;B;B;P	0.47034	0.889;0.374;0.082;0.576	P;B;B;B	0.46758	0.526;0.194;0.155;0.373	T	0.03761	-1.1006	10	0.10636	T	0.68	-11.615	16.0316	0.80582	0.0:0.1342:0.8658:0.0	.	98;98;155;155	B7Z676;E9PE63;Q86UD5-2;Q86UD5	.;.;.;SL9B2_HUMAN	I	155;55;155;155;98;98	ENSP00000354574:L155I;ENSP00000421943:L55I;ENSP00000345241:L155I;ENSP00000378265:L155I;ENSP00000425385:L98I;ENSP00000422477:L98I	ENSP00000345241:L155I	L	-	1	0	SLC9B2	104190968	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	2.984000	0.49353	2.481000	0.83766	0.591000	0.81541	CTC		PASS	0.368	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833		14	72	14	72	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104032074	104032074	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:104032074C>T	ENST00000265148.3	-	47	7724	c.7635G>A	c.(7633-7635)ttG>ttA	p.L2545L	CENPE_ENST00000380026.3_Silent_p.L2424L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2545	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L2508L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTTCACTTTTCAAAATAAGAG	0.348																																						uc003hxb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(4)	9						c.(7633-7635)TTG>TTA		centromere protein E							122.0	122.0	122.0					4																	104032074		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104032074C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7635G>A	4.37:g.104032074C>T						CENPE_uc003hxc.1_Silent_p.L2424L	p.L2545L	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	47	7725	-			2545			Potential.|Globular autoinhibitory domain (By similarity).		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.7635G>A	CCDS34042.1																																																																																				PASS	0.348	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				32	167	32	167	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113483616	113483616	+	Silent	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:113483616A>G	ENST00000505019.1	-	18	4733	c.4608T>C	c.(4606-4608)tgT>tgC	p.C1536C		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1536						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.C1536C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGCTAGCATTACAAACCAATA	0.363																																						uc003iau.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(4606-4608)TGT>TGC		prematurely terminated mRNA decay factor-like							99.0	81.0	87.0					4																	113483616		2203	4300	6503	SO:0001819	synonymous_variant	55345					integral to membrane	zinc ion binding	g.chr4:113483616A>G																												ENST00000505019.1:c.4608T>C	4.37:g.113483616A>G						C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_5'Flank	p.C1536C	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	18	4819	-		Ovarian(17;0.156)	358					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.4608T>C																																																																																					PASS	0.363	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			7	14	7	14	---	---	---	---
UGT8	7368	broad.mit.edu	37	4	115585244	115585244	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:115585244A>G	ENST00000310836.6	+	3	1438	c.916A>G	c.(916-918)Aac>Gac	p.N306D	UGT8_ENST00000394511.3_Missense_Mutation_p.N306D	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	306					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.N306D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGACATTGCTAACAAACTGGC	0.403																																						uc003ibs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(916-918)AAC>GAC		UDP-galactose-ceramide galactosyltransferase 8							146.0	136.0	139.0					4																	115585244		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115585244A>G	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.916A>G	4.37:g.115585244A>G	ENSP00000311648:p.Asn306Asp					UGT8_uc003ibt.2_Missense_Mutation_p.N306D|UGT8_uc011cge.1_RNA	p.N306D	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	3	1438	+		Ovarian(17;0.156)	306					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.916A>G	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.567707	0.45798	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.60797	0.16;0.16	5.65	-2.06	0.07298	.	0.910584	0.09709	N	0.765994	T	0.37210	0.0995	N	0.26092	0.79	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28902	-1.0029	10	0.59425	D	0.04	.	3.1841	0.06594	0.5458:0.2269:0.1278:0.0996	.	306	Q16880	CGT_HUMAN	D	306	ENSP00000311648:N306D;ENSP00000378019:N306D	ENSP00000311648:N306D	N	+	1	0	UGT8	115804693	0.000000	0.05858	0.857000	0.33713	0.989000	0.77384	0.212000	0.17497	-0.142000	0.11354	-0.256000	0.11100	AAC		PASS	0.403	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		10	168	10	168	---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122780234	122780234	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:122780234G>C	ENST00000264499.4	-	5	624	c.441C>G	c.(439-441)atC>atG	p.I147M	BBS7_ENST00000506636.1_Missense_Mutation_p.I147M	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	147					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.I147M(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCACATCATTGATTTTATCCC	0.418									Bardet-Biedl syndrome																													uc003ied.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(439-441)ATC>ATG		Bardet-Biedl syndrome 7 protein isoform a							143.0	149.0	147.0					4																	122780234		2203	4300	6503	SO:0001583	missense	55212	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122780234G>C	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.441C>G	4.37:g.122780234G>C	ENSP00000264499:p.Ile147Met					BBS7_uc003iee.1_Missense_Mutation_p.I147M	p.I147M	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN			5	615	-			147					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.441C>G	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643865	0.87859	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.74526	-0.85;-0.85	5.37	5.37	0.77165	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90768	0.4670	10	0.87932	D	0	-12.0136	19.1089	0.93309	0.0:0.0:1.0:0.0	.	147	Q8IWZ6	BBS7_HUMAN	M	147	ENSP00000264499:I147M;ENSP00000423626:I147M	ENSP00000264499:I147M	I	-	3	3	BBS7	122999684	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.394000	0.73223	2.520000	0.84964	0.655000	0.94253	ATC		PASS	0.418	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			39	206	39	206	---	---	---	---
IL21	59067	broad.mit.edu	37	4	123542124	123542124	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:123542124G>A	ENST00000264497.3	-	1	100	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	8					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)	p.L15L(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						ATGACCATCAGACAGATGACA	0.448																																						uc003ies.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(43-45)CTG>TTG		interleukin 21							149.0	141.0	144.0					4																	123542124		2203	4300	6503	SO:0001819	synonymous_variant	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542124G>A	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.43C>T	4.37:g.123542124G>A						uc003iet.2_RNA|IL21_uc010int.2_Silent_p.L8L	p.L15L	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN			1	88	-			8					A5J0L4	Silent	SNP	ENST00000264497.3	37	c.43C>T	CCDS3727.1																																																																																				PASS	0.448	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		10	128	10	128	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126241565	126241565	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:126241565C>T	ENST00000394329.3	+	1	4012	c.3999C>T	c.(3997-3999)ctC>ctT	p.L1333L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1333	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1333L(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGGTGAACTCGTGTCCTCTG	0.358																																						uc003ifj.3																			4	Substitution - coding silent(4)		lung(4)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3997-3999)CTC>CTT		FAT tumor suppressor homolog 4 precursor							139.0	131.0	133.0					4																	126241565		1890	4108	5998	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241565C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3999C>T	4.37:g.126241565C>T							p.L1333L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3999	+			1333			Cadherin 13.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3999C>T	CCDS3732.3																																																																																				PASS	0.358	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		17	213	17	213	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169197295	169197295	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:169197295C>T	ENST00000393743.3	-	15	2307	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	672			V -> M (in dbSNP:rs550625).		defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.V672V(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCCTTTTCATCACCTGAACAG	0.318																																						uc003irp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2014-2016)GTG>GTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							118.0	116.0	116.0					4																	169197295		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169197295C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2016G>A	4.37:g.169197295C>T							p.V672V	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	15	2308	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	672					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.2016G>A	CCDS34097.1																																																																																				PASS	0.318	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		14	81	14	81	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175899051	175899051	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:175899051C>G	ENST00000359240.3	+	5	3045	c.2375C>G	c.(2374-2376)cCt>cGt	p.P792R	ADAM29_ENST00000404450.4_Missense_Mutation_p.P792R|ADAM29_ENST00000514159.1_Missense_Mutation_p.P792R|ADAM29_ENST00000445694.1_Missense_Mutation_p.P792R|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	792	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P792R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAGTTGACGCCTTCCCAGAGT	0.572																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(2374-2376)CCT>CGT		ADAM metallopeptidase domain 29 preproprotein							162.0	151.0	154.0					4																	175899051		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175899051C>G	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2375C>G	4.37:g.175899051C>G	ENSP00000352177:p.Pro792Arg					ADAM29_uc003iud.2_Missense_Mutation_p.P792R|ADAM29_uc010irr.2_Missense_Mutation_p.P792R|ADAM29_uc011cki.1_Missense_Mutation_p.P792R	p.P792R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	3045	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	792			Cytoplasmic (Potential).|6.|9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2375C>G	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	5.744	0.321725	0.10845	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	0.727	-0.527	0.11909	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	P	0.44344	0.833	B	0.24394	0.053	T	0.46830	-0.9163	8	.	.	.	.	1.6014	0.02675	0.338:0.3949:0.0:0.2671	.	792	Q9UKF5	ADA29_HUMAN	R	792	ENSP00000352177:P792R;ENSP00000414544:P792R;ENSP00000384229:P792R;ENSP00000423517:P792R	.	P	+	2	0	ADAM29	176135626	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	0.379000	0.20585	-0.227000	0.09884	0.297000	0.19635	CCT		PASS	0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				38	204	38	204	---	---	---	---
WWC2	80014	broad.mit.edu	37	4	184182146	184182146	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr4:184182146G>C	ENST00000403733.3	+	11	1569	c.1370G>C	c.(1369-1371)aGc>aCc	p.S457T	WWC2_ENST00000504005.1_Missense_Mutation_p.S139T|WWC2_ENST00000513834.1_Missense_Mutation_p.S457T|WWC2_ENST00000448232.2_Missense_Mutation_p.S457T|WWC2_ENST00000378925.3_Missense_Mutation_p.S359T	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	457	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.S457T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AACACCTCCAGCAGAGGGTCA	0.512																																						uc010irx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1369-1371)AGC>ACC		WW and C2 domain containing 2							59.0	57.0	58.0					4																	184182146		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184182146G>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1370G>C	4.37:g.184182146G>C	ENSP00000384222:p.Ser457Thr					WWC2_uc003ivk.3_Missense_Mutation_p.S252T|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.S139T|WWC2_uc003ivn.3_Missense_Mutation_p.S21T	p.S457T	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	11	1552	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	457			Ser-rich.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1370G>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812937	0.90707	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.86502	2.82	0.58432	D	0.999995	D;D	0.71674	0.997;0.998	D;D	0.80764	0.985;0.994	T	0.68530	-0.5384	10	0.26408	T	0.33	-19.9588	18.1856	0.89791	0.0:0.0:1.0:0.0	.	457;457	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	T	457;359;457;457;139	ENSP00000384222:S457T;ENSP00000368205:S359T;ENSP00000425054:S457T;ENSP00000398577:S457T;ENSP00000427569:S139T	ENSP00000368205:S359T	S	+	2	0	WWC2	184419140	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.666000	0.83877	2.528000	0.85240	0.650000	0.86243	AGC		PASS	0.512	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		11	51	11	51	---	---	---	---
LRRC14B	389257	broad.mit.edu	37	5	195364	195364	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:195364G>T	ENST00000328278.3	+	2	1469	c.1441G>T	c.(1441-1443)Gac>Tac	p.D481Y	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	481								p.D493Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TGGAAGTTTTGACCCAGACAT	0.498																																						uc003jal.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1441-1443)GAC>TAC		leucine rich repeat containing 14B							93.0	101.0	99.0					5																	195364		2123	4240	6363	SO:0001583	missense	389257							g.chr5:195364G>T		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1441G>T	5.37:g.195364G>T	ENSP00000327675:p.Asp481Tyr						p.D481Y	NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN			2	1469	+			481						Missense_Mutation	SNP	ENST00000328278.3	37	c.1441G>T	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832469	0.50845	.	.	ENSG00000185028	ENST00000328278	T	0.01538	4.79	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.09291	0.0229	M	0.64997	1.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.01039	-1.1472	10	0.59425	D	0.04	.	16.6935	0.85328	0.0:0.0:1.0:0.0	.	481	A6NHZ5	LR14B_HUMAN	Y	481	ENSP00000327675:D481Y	ENSP00000327675:D481Y	D	+	1	0	LRRC14B	248364	1.000000	0.71417	0.942000	0.38095	0.155000	0.21991	9.282000	0.95840	2.567000	0.86603	0.561000	0.74099	GAC		PASS	0.498	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478		30	243	30	243	---	---	---	---
NSUN2	54888	broad.mit.edu	37	5	6602600	6602600	+	Silent	SNP	G	G	A	rs200618355	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:6602600G>A	ENST00000264670.6	-	18	2282	c.1971C>T	c.(1969-1971)atC>atT	p.I657I	NSUN2_ENST00000539938.1_Silent_p.I421I|NSUN2_ENST00000506139.1_Silent_p.I622I	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	657					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.I657I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACTTCAGCACGATGCTTCCCT	0.478													G|||	2	0.000399361	0.0	0.0014	5008	,	,		21857	0.001		0.0	False		,,,				2504	0.0					uc003jdu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1969-1971)ATC>ATT		NOL1/NOP2/Sun domain family, member 2		G	,	1,4405	2.1+/-5.4	0,1,2202	341.0	291.0	308.0		1866,1971	-1.4	0.9	5		308	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NSUN2	NM_001193455.1,NM_017755.5	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	622/733,657/768	6602600	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6602600G>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1971C>T	5.37:g.6602600G>A						NSUN2_uc003jds.2_Silent_p.I103I|NSUN2_uc003jdt.2_Silent_p.I421I|NSUN2_uc011cmk.1_Silent_p.I622I|NSUN2_uc003jdv.2_Silent_p.I421I	p.I657I	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			18	2036	-			657					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.1971C>T	CCDS3869.1																																																																																				PASS	0.478	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		198	447	198	447	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33534985	33534985	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:33534985G>T	ENST00000504830.1	-	23	4894	c.4559C>A	c.(4558-4560)cCt>cAt	p.P1520H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1435H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1520	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1520H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAATTCTGGAGGTCTGGGTTT	0.483										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4558-4560)CCT>CAT		ADAM metallopeptidase with thrombospondin type 1							158.0	148.0	151.0					5																	33534985		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33534985G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4559C>A	5.37:g.33534985G>T	ENSP00000422554:p.Pro1520His	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.P1435H	p.P1520H	NM_030955	NP_112217	P58397	ATS12_HUMAN			23	4722	-			1520			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4559C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976309	0.74360	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.64085	-0.08;-0.08	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.86855	0.6033	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91415	0.5154	10	0.87932	D	0	.	14.4467	0.67356	0.0:0.0:1.0:0.0	.	1435;1520	P58397-3;P58397	.;ATS12_HUMAN	H	1520;1435	ENSP00000422554:P1520H;ENSP00000344847:P1435H	ENSP00000344847:P1435H	P	-	2	0	ADAMTS12	33570742	1.000000	0.71417	0.957000	0.39632	0.941000	0.58515	5.181000	0.65054	2.551000	0.86045	0.563000	0.77884	CCT		PASS	0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		68	155	68	155	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37201803	37201803	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:37201803G>T	ENST00000508244.1	-	18	3490	c.3397C>A	c.(3397-3399)Ctg>Atg	p.L1133M	C5orf42_ENST00000274258.7_Missense_Mutation_p.L14M|C5orf42_ENST00000425232.2_Missense_Mutation_p.L1133M			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1133						integral component of membrane (GO:0016021)		p.L1133M(1)|p.L14M(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGTCTATCAGAAGTTGAAAT	0.448																																						uc011cpa.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|skin(1)	7						c.(3397-3399)CTG>ATG		hypothetical protein LOC65250							116.0	114.0	115.0					5																	37201803		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37201803G>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3397C>A	5.37:g.37201803G>T	ENSP00000421690:p.Leu1133Met					C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.L208M|C5orf42_uc011cpb.1_Missense_Mutation_p.L14M	p.L1133M	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		19	3628	-	all_lung(31;0.000616)		1133					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3397C>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956240	0.73902	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.41758	1.22;1.22;0.99;1.19	5.54	2.74	0.32292	.	0.000000	0.35772	N	0.002998	T	0.45955	0.1368	N	0.24115	0.695	0.31718	N	0.638683	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52726	-0.8537	10	0.72032	D	0.01	.	8.7748	0.34756	0.3727:0.0:0.6273:0.0	.	1133;14	E9PH94;Q9H799	.;CE042_HUMAN	M	1133;1133;14;181;14	ENSP00000421690:L1133M;ENSP00000389014:L1133M;ENSP00000274258:L14M;ENSP00000424223:L181M	ENSP00000274258:L14M	L	-	1	2	C5orf42	37237560	0.987000	0.35691	0.939000	0.37840	0.988000	0.76386	1.551000	0.36233	0.694000	0.31654	0.491000	0.48974	CTG		PASS	0.448	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		31	205	31	205	---	---	---	---
HMGCS1	3157	broad.mit.edu	37	5	43299062	43299062	+	Silent	SNP	A	A	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:43299062A>C	ENST00000325110.6	-	3	212	c.6T>G	c.(4-6)ccT>ccG	p.P2P	HMGCS1_ENST00000433297.2_Silent_p.P2P	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	2					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)	p.P2P(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GAAGTGATCCAGGCATGGTGA	0.358																																						uc003jnr.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(4-6)CCT>CCG		hydroxymethylglutaryl-CoA synthase 1							52.0	52.0	52.0					5																	43299062		2202	4299	6501	SO:0001819	synonymous_variant	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43299062A>C		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.6T>G	5.37:g.43299062A>C						HMGCS1_uc003jnq.3_Silent_p.P2P	p.P2P	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN			3	213	-			2					B2RDL8	Silent	SNP	ENST00000325110.6	37	c.6T>G	CCDS34154.1																																																																																				PASS	0.358	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			24	170	24	170	---	---	---	---
PAIP1	10605	broad.mit.edu	37	5	43536991	43536991	+	Missense_Mutation	SNP	C	C	T	rs140543083		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:43536991C>T	ENST00000306846.3	-	6	1134	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	PAIP1_ENST00000338972.4_Missense_Mutation_p.R189Q|PAIP1_ENST00000436644.2_Missense_Mutation_p.R222Q|PAIP1_ENST00000514514.1_Missense_Mutation_p.R222Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	301	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.R301Q(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CAGCAATTCTCGAAGACCAAC	0.323																																						uc003job.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(901-903)CGA>CAA		poly(A) binding protein interacting protein 1		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	71.0	70.0	71.0		902,665,566	5.6	1.0	5	dbSNP_134	71	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	PAIP1	NM_006451.4,NM_182789.3,NM_183323.2	43,43,43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	301/480,222/401,189/368	43536991	1,12999	2203	4297	6500	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43536991C>T	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.902G>A	5.37:g.43536991C>T	ENSP00000302768:p.Arg301Gln					PAIP1_uc003joa.2_Missense_Mutation_p.R222Q|PAIP1_uc010ivp.2_Missense_Mutation_p.R222Q|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.R189Q	p.R301Q	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			6	1149	-	Lung NSC(6;2.07e-05)		301			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.902G>A	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479661	0.44044	0.0	1.16E-4	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321	T;T;T;T;T	0.32515	1.98;1.98;1.98;1.98;1.45	5.61	5.61	0.85477	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.189812	0.47852	D	0.000219	T	0.16471	0.0396	N	0.21282	0.65	0.41027	D	0.985129	B;B;B	0.32968	0.367;0.392;0.153	B;B;B	0.16289	0.012;0.015;0.005	T	0.10291	-1.0636	10	0.21540	T	0.41	-3.2527	10.1421	0.42740	0.0:0.852:0.0:0.148	.	222;301;222	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	Q	301;222;189;222;189	ENSP00000302768:R301Q;ENSP00000387729:R222Q;ENSP00000339622:R189Q;ENSP00000425084:R222Q;ENSP00000425675:R189Q	ENSP00000302768:R301Q	R	-	2	0	PAIP1	43572748	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.336000	0.43938	2.649000	0.89929	0.650000	0.86243	CGA		PASS	0.323	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		22	71	22	71	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52404424	52404424	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:52404424G>A	ENST00000361377.4	-	2	109	c.68C>T	c.(67-69)tCa>tTa	p.S23L	MOCS2_ENST00000584946.1_Missense_Mutation_p.S23L|MOCS2_ENST00000508922.1_Missense_Mutation_p.S23L|MOCS2_ENST00000450852.3_Missense_Mutation_p.S23L|MOCS2_ENST00000510818.2_Missense_Mutation_p.S23L|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000527216.1_Missense_Mutation_p.S18L|MOCS2_ENST00000582677.1_Missense_Mutation_p.S23L|CTD-2366F13.1_ENST00000502171.2_RNA|CTD-2366F13.1_ENST00000499459.2_RNA|CTD-2366F13.1_ENST00000512301.1_RNA					molybdenum cofactor synthesis 2									p.S23L(1)		endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AATGGTCTCTGAACGAACTCC	0.358																																						uc011cqf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)TCA>TTA		molybdopterin synthase small subunit MOCS2A							111.0	100.0	103.0					5																	52404424		1840	4106	5946	SO:0001583	missense	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52404424G>A	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000361377.4:c.68C>T	5.37:g.52404424G>A	ENSP00000355160:p.Ser23Leu					MOCS2_uc003joz.2_5'UTR|uc003jpb.1_5'Flank	p.S23L	NM_176806	NP_789776	O96033	MOC2A_HUMAN			2	107	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	23						Missense_Mutation	SNP	ENST00000361377.4	37	c.68C>T	CCDS47205.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041368	0.55003	.	.	ENSG00000164172	ENST00000361377;ENST00000510818;ENST00000450852;ENST00000508922	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.86	5.86	0.93980	Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp (1);Beta-grasp fold, ferredoxin-type (1);	.	.	.	.	T	0.52240	0.1722	.	.	.	0.26335	N	0.97746	P	0.43231	0.801	B	0.34931	0.192	T	0.54410	-0.8298	8	0.46703	T	0.11	.	16.3626	0.83275	0.0:0.1319:0.8681:0.0	.	23	O96033	MOC2A_HUMAN	L	23	ENSP00000355160:S23L;ENSP00000424267:S23L;ENSP00000411022:S23L;ENSP00000426274:S23L	ENSP00000355160:S23L	S	-	2	0	MOCS2	52440181	1.000000	0.71417	0.667000	0.29798	0.994000	0.84299	4.593000	0.61034	2.776000	0.95493	0.655000	0.94253	TCA		PASS	0.358	MOCS2-004	KNOWN	alternative_3_UTR|NMD_exception|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000367796.3	NM_183418		19	92	19	92	---	---	---	---
CDC20B	166979	broad.mit.edu	37	5	54420686	54420686	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:54420686C>T	ENST00000381375.2	-	9	1305	c.1160G>A	c.(1159-1161)gGt>gAt	p.G387D	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.G387D|CDC20B_ENST00000296733.1_Missense_Mutation_p.G387D			Q86Y33	CD20B_HUMAN	cell division cycle 20B	387								p.G387D(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGCACTGGCACCTGGATCGTG	0.542																																						uc003jpo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)GGT>GAT		CDC20 cell division cycle 20 homolog B isoform							102.0	91.0	95.0					5																	54420686		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54420686C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1160G>A	5.37:g.54420686C>T	ENSP00000370781:p.Gly387Asp					CDC20B_uc003jpn.1_Missense_Mutation_p.G387D|CDC20B_uc010ivu.1_Missense_Mutation_p.G387D|CDC20B_uc010ivv.1_3'UTR	p.G387D	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		9	1335	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	387			WD 4.		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.1160G>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653079	0.67472	.	.	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.27890	1.64;1.64;1.64	4.27	4.27	0.50696	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.162345	0.29015	N	0.013410	T	0.54743	0.1877	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.57021	-0.7882	10	0.45353	T	0.12	-27.7667	16.4726	0.84115	0.0:1.0:0.0:0.0	.	387;387;387	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	D	387	ENSP00000296733:G387D;ENSP00000370781:G387D;ENSP00000315720:G387D	ENSP00000296733:G387D	G	-	2	0	CDC20B	54456443	0.136000	0.22515	0.008000	0.14137	0.154000	0.21943	1.718000	0.38001	2.195000	0.70347	0.650000	0.86243	GGT		PASS	0.542	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		22	102	22	102	---	---	---	---
PDE4D	5144	broad.mit.edu	37	5	58272239	58272239	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:58272239C>T	ENST00000340635.6	-	13	1943	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	PDE4D_ENST00000546160.1_Missense_Mutation_p.E529K|PDE4D_ENST00000507116.1_Missense_Mutation_p.E526K|PDE4D_ENST00000503258.1_Missense_Mutation_p.E460K|PDE4D_ENST00000502484.2_Missense_Mutation_p.E529K|PDE4D_ENST00000317118.8_Missense_Mutation_p.E299K|PDE4D_ENST00000358923.6_Missense_Mutation_p.E288K|PDE4D_ENST00000405755.2_Missense_Mutation_p.E468K|PDE4D_ENST00000360047.5_Missense_Mutation_p.E454K	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	590			E -> A (in ACRDYS2). {ECO:0000269|PubMed:22464252, ECO:0000269|PubMed:23043190}.		adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.E454K(2)|p.E460K(1)|p.E468K(1)|p.E526K(1)|p.E590K(1)|p.E529K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTCTTAGTTTCAACCATAGTC	0.353																																						uc003jsa.2																			7	Substitution - Missense(7)		lung(7)	breast(1)|central_nervous_system(1)	2						c.(1768-1770)GAA>AAA		phosphodiesterase 4D isoform 1	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						114.0	110.0	111.0					5																	58272239		1854	4100	5954	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58272239C>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1768G>A	5.37:g.58272239C>T	ENSP00000345502:p.Glu590Lys					PDE4D_uc003jrx.2_Missense_Mutation_p.E454K|PDE4D_uc003jry.2_Missense_Mutation_p.E288K|PDE4D_uc003jrz.2_Missense_Mutation_p.E526K|PDE4D_uc003jsb.2_Missense_Mutation_p.E529K|PDE4D_uc003jrt.2_Missense_Mutation_p.E288K|PDE4D_uc003jru.2_Missense_Mutation_p.E366K|PDE4D_uc003jrv.2_Missense_Mutation_p.E460K|PDE4D_uc003jrw.2_Missense_Mutation_p.E468K|PDE4D_uc003jrs.2_Missense_Mutation_p.E299K	p.E590K	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	13	1940	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	590					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.1768G>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473966	0.96291	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	D;D;D;D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	4.65	4.65	0.58169	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89646	0.6775	L	0.60957	1.885	0.80722	D	1	P;P;P;D;D;P;D;D	0.76494	0.913;0.93;0.913;0.999;0.999;0.913;0.984;0.992	D;D;P;D;D;D;D;D	0.87578	0.924;0.955;0.89;0.998;0.998;0.924;0.937;0.937	D	0.90673	0.4599	10	0.87932	D	0	.	18.0772	0.89431	0.0:1.0:0.0:0.0	.	529;590;526;453;468;460;365;299	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	K	590;459;454;526;288;299;460;468;529;529;288	ENSP00000345502:E590K;ENSP00000353152:E454K;ENSP00000424852:E526K;ENSP00000351800:E288K;ENSP00000321739:E299K;ENSP00000425605:E460K;ENSP00000384806:E468K;ENSP00000423094:E529K;ENSP00000442734:E529K;ENSP00000421013:E288K	ENSP00000321739:E299K	E	-	1	0	PDE4D	58307996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.579000	0.87056	0.655000	0.94253	GAA		PASS	0.353	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			7	16	7	16	---	---	---	---
PPWD1	23398	broad.mit.edu	37	5	64859172	64859172	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:64859172G>A	ENST00000261308.5	+	1	107	c.35G>A	c.(34-36)aGa>aAa	p.R12K	CENPK_ENST00000396679.1_5'Flank|PPWD1_ENST00000538977.1_5'UTR|CENPK_ENST00000508421.1_5'Flank|CENPK_ENST00000506282.2_5'Flank|CENPK_ENST00000510354.1_5'Flank|CENPK_ENST00000510693.1_5'Flank|CENPK_ENST00000514814.1_5'Flank|PPWD1_ENST00000535264.1_5'UTR	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	12	Poly-Arg.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R12K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TTTCAGCAGAGACGTAGAAGG	0.567																																						uc003jtv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(34-36)AGA>AAA		peptidylprolyl isomerase domain and WD repeat							62.0	68.0	66.0					5																	64859172		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64859172G>A	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.35G>A	5.37:g.64859172G>A	ENSP00000261308:p.Arg12Lys					PPWD1_uc011cqv.1_5'UTR|PPWD1_uc011cqw.1_5'UTR|CENPK_uc003jts.2_5'Flank|CENPK_uc003jtt.2_5'Flank|CENPK_uc003jtu.2_5'Flank	p.R12K	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	1	42	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	12			Poly-Arg.		B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.35G>A	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	G	8.892	0.954209	0.18431	.	.	ENSG00000113593	ENST00000261308	T	0.60672	0.17	4.73	-0.188	0.13264	.	0.458806	0.24391	N	0.038934	T	0.27278	0.0669	N	0.08118	0	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	10	0.08381	T	0.77	.	7.2788	0.26300	0.3408:0.1134:0.5458:0.0	.	12	Q96BP3	PPWD1_HUMAN	K	12	ENSP00000261308:R12K	ENSP00000261308:R12K	R	+	2	0	PPWD1	64894928	0.007000	0.16637	0.000000	0.03702	0.045000	0.14185	0.448000	0.21726	0.033000	0.15463	-0.218000	0.12543	AGA		PASS	0.567	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		19	116	19	116	---	---	---	---
NLN	57486	broad.mit.edu	37	5	65073347	65073347	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:65073347G>C	ENST00000380985.5	+	4	722	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	NLN_ENST00000502464.1_Missense_Mutation_p.E78Q	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	182						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.E182Q(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CCATCTTCCTGAACAAGTACA	0.343																																						uc003juf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(544-546)GAA>CAA		neurolysin precursor							89.0	93.0	92.0					5																	65073347		2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65073347G>C	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.544G>C	5.37:g.65073347G>C	ENSP00000370372:p.Glu182Gln					NLN_uc003jue.2_Missense_Mutation_p.E182Q|NLN_uc003jug.2_Missense_Mutation_p.E11Q	p.E182Q	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	4	660	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	182					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.544G>C	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434152	0.25813	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159	T;T	0.09445	2.98;2.98	5.38	4.45	0.53987	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.318671	0.37809	N	0.001934	T	0.11580	0.0282	M	0.72353	2.195	0.29440	N	0.859228	B;B	0.23650	0.003;0.089	B;B	0.13407	0.005;0.009	T	0.04976	-1.0914	10	0.23891	T	0.37	-19.192	7.3785	0.26841	0.1127:0.1722:0.7151:0.0	.	182;182	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	Q	182;78;182	ENSP00000370372:E182Q;ENSP00000423214:E78Q	ENSP00000339283:E182Q	E	+	1	0	NLN	65109103	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.975000	0.49281	2.680000	0.91292	0.557000	0.71058	GAA		PASS	0.343	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			24	122	24	122	---	---	---	---
REEP5	7905	broad.mit.edu	37	5	112257809	112257809	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:112257809C>T	ENST00000379638.4	-	1	427	c.79G>A	c.(79-81)Gag>Aag	p.E27K	REEP5_ENST00000513339.1_Missense_Mutation_p.E27K|REEP5_ENST00000545426.1_Missense_Mutation_p.E27K|REEP5_ENST00000474542.2_5'Flank|REEP5_ENST00000504247.1_Missense_Mutation_p.E27K	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	27						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E27K(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GTTTTGGCCTCGAGCTTGGCC	0.677																																						uc003kqe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)GAG>AAG		receptor accessory protein 5							72.0	66.0	68.0					5																	112257809		2202	4300	6502	SO:0001583	missense	7905					integral to membrane	protein binding	g.chr5:112257809C>T	BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"""Receptor accessory proteins"""	30077	protein-coding gene	gene with protein product	"""deleted in polyposis 1"", ""polyposis locus protein 1"", ""polyposis coli region hypothetical protein DP1"""	125265	"""chromosome 5 open reading frame 18"""	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.79G>A	5.37:g.112257809C>T	ENSP00000368959:p.Glu27Lys					REEP5_uc011cvw.1_5'Flank|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Missense_Mutation_p.E27K|REEP5_uc011cvz.1_RNA	p.E27K	NM_005669	NP_005660	Q00765	REEP5_HUMAN		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)	1	223	-		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	27					B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Missense_Mutation	SNP	ENST00000379638.4	37	c.79G>A	CCDS4109.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135209	0.77662	.	.	ENSG00000129625	ENST00000379638;ENST00000513339;ENST00000545426;ENST00000504247	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.969;0.994	D	0.86830	0.2010	10	0.87932	D	0	-41.9862	16.3524	0.83220	0.0:1.0:0.0:0.0	.	27;27	B7Z510;Q00765	.;REEP5_HUMAN	K	27	ENSP00000368959:E27K;ENSP00000425901:E27K;ENSP00000442940:E27K;ENSP00000421881:E27K	ENSP00000368959:E27K	E	-	1	0	REEP5	112285708	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	6.323000	0.72891	1.932000	0.55993	0.655000	0.94253	GAG		PASS	0.677	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250739.2	NM_005669		6	61	6	61	---	---	---	---
ISOC1	51015	broad.mit.edu	37	5	128440953	128440953	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:128440953C>G	ENST00000173527.5	+	3	521	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	169						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)	p.Q169E(1)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GAGCACGGTTCAAGAAATTGA	0.398																																						uc003kva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)CAA>GAA		isochorismatase domain containing 1							95.0	89.0	91.0					5																	128440953		1917	4152	6069	SO:0001583	missense	51015					peroxisome	catalytic activity	g.chr5:128440953C>G	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.505C>G	5.37:g.128440953C>G	ENSP00000173527:p.Gln169Glu						p.Q169E	NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	3	523	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	169					Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	c.505C>G	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689379	0.29962	.	.	ENSG00000066583	ENST00000506986;ENST00000514194;ENST00000173527;ENST00000513879	.	.	.	4.86	4.86	0.63082	Isochorismatase-like (3);	0.000000	0.64402	D	0.000001	T	0.22360	0.0539	N	0.00525	-1.395	0.52099	D	0.999947	B	0.15473	0.013	B	0.18871	0.023	T	0.26087	-1.0113	8	.	.	.	-14.6651	18.567	0.91120	0.0:1.0:0.0:0.0	.	169	Q96CN7	ISOC1_HUMAN	E	148;160;169;160	.	.	Q	+	1	0	ISOC1	128468852	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.887000	0.75616	2.709000	0.92574	0.655000	0.94253	CAA		PASS	0.398	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		4	80	4	80	---	---	---	---
CXCL14	9547	broad.mit.edu	37	5	134914177	134914177	+	Silent	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:134914177C>G	ENST00000337225.5	-	2	617	c.153G>C	c.(151-153)gtG>gtC	p.V51V	CXCL14_ENST00000512158.1_Silent_p.V39V|CTC-321K16.1_ENST00000514446.1_RNA|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	51					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inner ear development (GO:0048839)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	chemokine activity (GO:0008009)	p.V51V(1)		large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGCTTCTTCACGTCGCTGT	0.592																																						uc003lay.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(151-153)GTG>GTC		small inducible cytokine B14 precursor							162.0	151.0	155.0					5																	134914177		2203	4300	6503	SO:0001819	synonymous_variant	9547				cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity	g.chr5:134914177C>G	AF073957	CCDS4188.1	5q31	2010-04-30	2002-08-22	2002-08-23	ENSG00000145824	ENSG00000145824			10640	protein-coding gene	gene with protein product	"""breast and kidney"""	604186	"""small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)"""	SCYB14		10049774	Standard	NM_004887		Approved	BRAK, NJAC, bolekine, Kec, MIP-2g, BMAC, KS1	uc003lay.3	O95715	OTTHUMG00000129139	ENST00000337225.5:c.153G>C	5.37:g.134914177C>G							p.V51V	NM_004887	NP_004878	O95715	CXL14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	618	-			51					B3KQU8|Q6UW97|Q86U69|Q9BTR1|Q9NS21	Silent	SNP	ENST00000337225.5	37	c.153G>C	CCDS4188.1																																																																																				PASS	0.592	CXCL14-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_004887		7	316	7	316	---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137501561	137501561	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:137501561C>G	ENST00000254900.5	-	11	1605	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	BRD8_ENST00000455658.2_Missense_Mutation_p.D371H|BRD8_ENST00000411594.2_Missense_Mutation_p.D415H|BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000402931.1_Missense_Mutation_p.D412H|BRD8_ENST00000230901.5_Missense_Mutation_p.D485H	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	412					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.D485H(1)|p.D412H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTCTCAAAATCCAGCTCTTCA	0.463																																						uc003lcf.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1234-1236)GAT>CAT		bromodomain containing 8 isoform 2							145.0	145.0	145.0					5																	137501561		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137501561C>G	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1234G>C	5.37:g.137501561C>G	ENSP00000254900:p.Asp412His					BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.D191H|BRD8_uc003lcg.2_Missense_Mutation_p.D485H|BRD8_uc003lci.2_Missense_Mutation_p.D415H|BRD8_uc003lch.2_Missense_Mutation_p.D306H|BRD8_uc011cym.1_Missense_Mutation_p.D396H|BRD8_uc010jer.1_Missense_Mutation_p.D381H|BRD8_uc011cyn.1_Missense_Mutation_p.D371H	p.D412H	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		11	1289	-			412					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.1234G>C	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.387411|4.387411	0.82902|0.82902	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898|ENST00000441656	T;T;T;T;T;T;T|.	0.70164|.	-0.2;-0.35;-0.25;-0.14;-0.4;-0.27;-0.46|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59321|0.59321	0.2185|0.2185	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.999;0.997;0.999;0.999;0.999;0.999|.	T|T	0.51942|0.51942	-0.8641|-0.8641	10|5	0.87932|.	D|.	0|.	-13.2824|-13.2824	18.4083|18.4083	0.90542|0.90542	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	371;396;191;485;415;306;485;412|.	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9|.	.;.;.;.;.;.;.;BRD8_HUMAN|.	H|C	412;441;410;485;412;415;306;371;31|405	ENSP00000254900:D412H;ENSP00000398067:D441H;ENSP00000398873:D410H;ENSP00000230901:D485H;ENSP00000384845:D412H;ENSP00000394330:D415H;ENSP00000408396:D371H|.	ENSP00000230901:D485H|.	D|W	-|-	1|3	0|0	BRD8|BRD8	137529460|137529460	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.134000|7.134000	0.77268|0.77268	2.829000|2.829000	0.97493|0.97493	0.655000|0.655000	0.94253|0.94253	GAT|TGG		PASS	0.463	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		16	141	16	141	---	---	---	---
PCDHA10	56139	broad.mit.edu	37	5	140236873	140236873	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:140236873C>A	ENST00000307360.5	+	1	1240	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R414S|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R414S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCTGGACCGCGAGAGGGT	0.642																																						uc003lhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1240-1242)CGC>AGC		protocadherin alpha 10 isoform 1 precursor							137.0	125.0	129.0					5																	140236873		2197	4274	6471	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236873C>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1240C>A	5.37:g.140236873C>A	ENSP00000304234:p.Arg414Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.R414S|PCDHA10_uc011dad.1_Missense_Mutation_p.R414S	p.R414S	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1240	+			414			Cadherin 4.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1240C>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925562	0.34002	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.59638	4.68;0.25	3.96	2.09	0.27110	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85366	0.5680	H	0.99600	4.65	0.27404	N	0.954752	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.995;0.98;0.982	T	0.78981	-0.1989	9	0.87932	D	0	.	12.4563	0.55706	0.3052:0.6948:0.0:0.0	.	414;414;414	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	414	ENSP00000421030:R414S;ENSP00000304234:R414S	ENSP00000304234:R414S	R	+	1	0	PCDHA10	140217057	0.152000	0.22762	0.986000	0.45419	0.296000	0.27459	-0.148000	0.10219	0.402000	0.25451	0.556000	0.70494	CGC		PASS	0.642	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		79	444	79	444	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140604413	140604413	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:140604413G>C	ENST00000239449.4	+	1	1336	c.1336G>C	c.(1336-1338)Gac>Cac	p.D446H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.D293H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	446	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D446H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACGTCAATGACAACGCCCC	0.582																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1336-1338)GAC>CAC		protocadherin beta 14 precursor							152.0	145.0	147.0					5																	140604413		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604413G>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1336G>C	5.37:g.140604413G>C	ENSP00000239449:p.Asp446His					PCDHB14_uc011dal.1_Missense_Mutation_p.D293H	p.D446H	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1336	+			446			Cadherin 4.|Extracellular (Potential).		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1336G>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	13.33	2.206130	0.39003	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.72051	-0.62;-0.62	4.5	4.5	0.54988	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.91901	0.7436	H	0.99842	4.835	0.44780	D	0.997788	D	0.89917	1.0	D	0.97110	1.0	D	0.95998	0.8991	9	0.87932	D	0	.	17.2613	0.87070	0.0:0.0:1.0:0.0	.	446	Q9Y5E9	PCDBE_HUMAN	H	293;446	ENSP00000444518:D293H;ENSP00000239449:D446H	ENSP00000239449:D446H	D	+	1	0	PCDHB14	140584597	1.000000	0.71417	0.997000	0.53966	0.082000	0.17680	7.743000	0.85020	2.235000	0.73313	0.556000	0.70494	GAC		PASS	0.582	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		83	431	83	431	---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140626581	140626581	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:140626581G>T	ENST00000231173.3	+	1	1435	c.1435G>T	c.(1435-1437)Gac>Tac	p.D479Y		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	479	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D479Y(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACAGAGACTCGGGCAC	0.657																																						uc003lje.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(1435-1437)GAC>TAC		protocadherin beta 15 precursor							65.0	75.0	71.0					5																	140626581		2203	4290	6493	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626581G>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1435G>T	5.37:g.140626581G>T	ENSP00000231173:p.Asp479Tyr						p.D479Y	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1435	+			479			Extracellular (Potential).|Cadherin 5.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.1435G>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991915	0.74703	.	.	ENSG00000113248	ENST00000231173	T	0.74737	-0.87	4.1	4.1	0.47936	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92642	0.7662	H	0.99659	4.685	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	D	0.96234	0.9170	9	0.87932	D	0	.	16.8723	0.86043	0.0:0.0:1.0:0.0	.	479	Q9Y5E8	PCDBF_HUMAN	Y	479	ENSP00000231173:D479Y	ENSP00000231173:D479Y	D	+	1	0	PCDHB15	140606765	1.000000	0.71417	0.851000	0.33527	0.992000	0.81027	9.352000	0.97076	2.251000	0.74343	0.485000	0.47835	GAC		PASS	0.657	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		60	205	60	205	---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140711217	140711217	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:140711217G>T	ENST00000517417.1	+	1	966	c.966G>T	c.(964-966)caG>caT	p.Q322H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.Q322H|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q322H(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGCCCAGGATGGTGCGG	0.398																																						uc003lji.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(964-966)CAG>CAT		protocadherin gamma subfamily A, 1 isoform 1							67.0	67.0	67.0					5																	140711217		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711217G>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.966G>T	5.37:g.140711217G>T	ENSP00000431083:p.Gln322His					PCDHGA1_uc011dan.1_Missense_Mutation_p.Q322H	p.Q322H	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	966	+			322			Cadherin 3.|Extracellular (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.966G>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282373	0.23392	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01767	4.65;4.65	3.99	1.16	0.20824	Cadherin (5);Cadherin-like (1);	0.000000	0.45867	D	0.000340	T	0.01800	0.0057	L	0.47016	1.485	0.24098	N	0.995887	B;B	0.20459	0.036;0.045	B;B	0.27076	0.067;0.076	T	0.43972	-0.9358	10	0.34782	T	0.22	.	2.4182	0.04441	0.3319:0.0:0.2864:0.3818	.	322;322	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	H	322	ENSP00000431083:Q322H;ENSP00000367345:Q322H	ENSP00000367345:Q322H	Q	+	3	2	PCDHGA1	140691401	0.079000	0.21365	1.000000	0.80357	0.963000	0.63663	0.488000	0.22371	0.454000	0.26884	-0.188000	0.12872	CAG		PASS	0.398	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		41	182	41	182	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140736427	140736427	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:140736427G>T	ENST00000571252.1	+	1	1660	c.1660G>T	c.(1660-1662)Gac>Tac	p.D554Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGCTGGACCAGAACGA	0.572																																						uc003ljq.1																			0					0						c.(1660-1662)GAC>TAC		protocadherin gamma subfamily A, 4 isoform 1							197.0	206.0	203.0					5																	140736427		2198	4299	6497	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736427G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1660G>T	5.37:g.140736427G>T	ENSP00000458570:p.Asp554Tyr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.D554Y	p.D554Y	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1660	+			554			Extracellular (Potential).|Cadherin 5.		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1660G>T	CCDS58979.1																																																																																				PASS	0.572	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		80	443	80	443	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140741050	140741050	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:140741050C>A	ENST00000522605.1	+	1	1348	c.1348C>A	c.(1348-1350)Cca>Aca	p.P450T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P450T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATAATGCCCCAGTTTTCCA	0.552																																						uc003ljs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1348-1350)CCA>ACA		protocadherin gamma subfamily B, 2 isoform 1							105.0	108.0	107.0					5																	140741050		2064	4207	6271	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741050C>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1348C>A	5.37:g.140741050C>A	ENSP00000429018:p.Pro450Thr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.P450T|PCDHGA5_uc011das.1_5'Flank	p.P450T	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1348	+			450			Extracellular (Potential).|Cadherin 4.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1348C>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	15.23	2.773160	0.49680	.	.	ENSG00000253910	ENST00000522605	D	0.84730	-1.89	5.41	5.41	0.78517	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.96327	0.8802	H	0.99590	4.645	0.46298	D	0.998973	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98083	1.0405	9	0.87932	D	0	.	19.1711	0.93578	0.0:1.0:0.0:0.0	.	450;450	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	T	450	ENSP00000429018:P450T	ENSP00000429018:P450T	P	+	1	0	PCDHGB2	140721234	1.000000	0.71417	0.139000	0.22197	0.212000	0.24457	7.679000	0.84048	2.685000	0.91497	0.563000	0.77884	CCA		PASS	0.552	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		67	307	67	307	---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145863154	145863154	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:145863154C>T	ENST00000296702.5	+	14	2112	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	TCERG1_ENST00000394421.2_Missense_Mutation_p.P671S	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	692	FF 1.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.P692S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTTTTGATCCCCGGTACTT	0.328																																						uc003lob.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2074-2076)CCC>TCC		transcription elongation regulator 1 isoform 1							96.0	99.0	98.0					5																	145863154		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145863154C>T	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2074C>T	5.37:g.145863154C>T	ENSP00000296702:p.Pro692Ser					TCERG1_uc003loc.2_Missense_Mutation_p.P671S	p.P692S	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2114	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	692			FF 1.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.2074C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495074	0.44352	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.39406	1.08;1.08	5.54	5.54	0.83059	FF domain (4);	0.047423	0.85682	D	0.000000	T	0.42899	0.1223	L	0.49126	1.545	0.80722	D	1	P;B	0.36222	0.544;0.267	B;B	0.35240	0.198;0.057	T	0.40776	-0.9545	10	0.56958	D	0.05	-9.5161	19.4868	0.95032	0.0:1.0:0.0:0.0	.	671;692	O14776-2;O14776	.;TCRG1_HUMAN	S	692;671	ENSP00000296702:P692S;ENSP00000377943:P671S	ENSP00000296702:P692S	P	+	1	0	TCERG1	145843347	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.790000	0.85794	2.598000	0.87819	0.563000	0.77884	CCC		PASS	0.328	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		8	65	8	65	---	---	---	---
HTR4	3360	broad.mit.edu	37	5	147889510	147889510	+	Silent	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:147889510G>T	ENST00000377888.3	-	6	723	c.585C>A	c.(583-585)acC>acA	p.T195T	HTR4_ENST00000314512.6_Silent_p.T195T|HTR4_ENST00000362016.2_Silent_p.T209T|HTR4_ENST00000521530.1_Silent_p.T195T|HTR4_ENST00000517929.1_Silent_p.T195T|HTR4_ENST00000520514.1_Silent_p.T195T|HTR4_ENST00000521735.1_Silent_p.T195T|HTR4_ENST00000354217.2_Silent_p.T195T|HTR4_ENST00000360693.3_Silent_p.T195T	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	195					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.T195T(2)|p.T209T(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CCACAGAGCAGGTGATGGCGT	0.493																																					GBM(120;370 1604 14007 17804 41573)	uc003lpn.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(583-585)ACC>ACA		serotonin 5-HT4 receptor isoform b	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						94.0	88.0	90.0					5																	147889510		2203	4300	6503	SO:0001819	synonymous_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147889510G>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.585C>A	5.37:g.147889510G>T						HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Silent_p.T195T|HTR4_uc003lpj.1_Silent_p.T195T|HTR4_uc003lpk.2_Silent_p.T195T|HTR4_uc011dby.1_Silent_p.T195T|HTR4_uc003lpl.2_Silent_p.T209T|HTR4_uc003lpm.2_Silent_p.T195T|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Silent_p.T195T	p.T195T	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	749	-			195			Helical; Name=5; (By similarity).		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000377888.3	37	c.585C>A	CCDS4291.1																																																																																				PASS	0.493	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		14	60	14	60	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167626084	167626084	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:167626084G>T	ENST00000518659.1	+	16	3166	c.3127G>T	c.(3127-3129)Gcc>Tcc	p.A1043S	TENM2_ENST00000403607.2_Missense_Mutation_p.A867S|TENM2_ENST00000520394.1_Missense_Mutation_p.A811S|TENM2_ENST00000545108.1_Missense_Mutation_p.A1043S|TENM2_ENST00000519204.1_Missense_Mutation_p.A922S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1043					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.A922S(1)|p.A876S(1)|p.A1043S(1)									CTTTAGTGCTGCCCCTGGGCA	0.577																																						uc010jjd.2																			3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(3100-3102)GCC>TCC		odz, odd Oz/ten-m homolog 2							60.0	62.0	61.0					5																	167626084		2036	4191	6227	SO:0001583	missense	57451							g.chr5:167626084G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3127G>T	5.37:g.167626084G>T	ENSP00000429430:p.Ala1043Ser					ODZ2_uc003lzr.3_Missense_Mutation_p.A811S|ODZ2_uc003lzt.3_Missense_Mutation_p.A407S|ODZ2_uc010jje.2_Missense_Mutation_p.A305S	p.A1034S	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	16	3100	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3100G>T		.	.	.	.	.	.	.	.	.	.	G	9.233	1.036417	0.19669	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88586	-1.93;-1.92;-2.03;-2.4;-2.4	5.55	3.36	0.38483	.	0.514735	0.23636	N	0.046076	T	0.65533	0.2700	N	0.00677	-1.265	0.25049	N	0.991148	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.58233	-0.7672	10	0.22109	T	0.4	.	8.5247	0.33298	0.0782:0.0:0.5463:0.3755	.	1043;1043;811	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	1043;1043;922;811;867	ENSP00000429430:A1043S;ENSP00000438635:A1043S;ENSP00000428964:A922S;ENSP00000427874:A811S;ENSP00000384905:A867S	ENSP00000384905:A867S	A	+	1	0	ODZ2	167558662	0.582000	0.26749	0.999000	0.59377	0.985000	0.73830	0.629000	0.24538	1.284000	0.44531	0.655000	0.94253	GCC		PASS	0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		8	50	8	50	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167645606	167645606	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:167645606C>T	ENST00000518659.1	+	23	4749	c.4710C>T	c.(4708-4710)gtC>gtT	p.V1570V	TENM2_ENST00000403607.2_Silent_p.V1394V|TENM2_ENST00000520394.1_Silent_p.V1331V|TENM2_ENST00000545108.1_Silent_p.V1569V|TENM2_ENST00000519204.1_Silent_p.V1449V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1570					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V1449V(1)|p.V1403V(1)|p.V1570V(1)									TCAGGGCGGTCAGCAAGAACA	0.483																																						uc010jjd.2																			3	Substitution - coding silent(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(4681-4683)GTC>GTT		odz, odd Oz/ten-m homolog 2							162.0	157.0	158.0					5																	167645606		1967	4144	6111	SO:0001819	synonymous_variant	57451							g.chr5:167645606C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4710C>T	5.37:g.167645606C>T						ODZ2_uc003lzr.3_Silent_p.V1331V|ODZ2_uc003lzt.3_Silent_p.V934V|ODZ2_uc010jje.2_Silent_p.V825V	p.V1561V	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	23	4683	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.4683C>T																																																																																					PASS	0.483	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		54	259	54	259	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170722917	170722917	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr5:170722917G>C	ENST00000523189.1	+	27	3233	c.3069G>C	c.(3067-3069)ttG>ttC	p.L1023F	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1023					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.L1023F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGCAAGTTTGATAAACAGCC	0.527			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3067-3069)TTG>TTC		RAN binding protein 17							123.0	117.0	119.0					5																	170722917		2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170722917G>C	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.3069G>C	5.37:g.170722917G>C	ENSP00000427975:p.Leu1023Phe					RANBP17_uc003mbb.2_Missense_Mutation_p.L348F|RANBP17_uc010jjs.2_RNA	p.L1023F	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		27	3085	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1023					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.3069G>C	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	5.383	0.255943	0.10185	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.28895	1.59	5.85	4.98	0.66077	Armadillo-like helical (1);	0.000000	0.49916	D	0.000140	T	0.28797	0.0714	L	0.58101	1.795	0.41107	D	0.985711	B	0.24043	0.096	B	0.29524	0.103	T	0.11567	-1.0582	10	0.31617	T	0.26	-7.5297	6.6943	0.23191	0.1478:0.0:0.7068:0.1453	.	1023	Q9H2T7	RBP17_HUMAN	F	1023;453	ENSP00000427975:L1023F	ENSP00000427975:L1023F	L	+	3	2	RANBP17	170655522	1.000000	0.71417	0.995000	0.50966	0.116000	0.19942	1.897000	0.39799	1.472000	0.48140	0.655000	0.94253	TTG		PASS	0.527	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		19	131	19	131	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15517468	15517468	+	Missense_Mutation	SNP	G	G	A	rs367941514		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:15517468G>A	ENST00000341776.2	+	17	3771	c.3527G>A	c.(3526-3528)cGa>cAa	p.R1176Q	JARID2_ENST00000397311.3_Missense_Mutation_p.R1004Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1176					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1176Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGTCCTGCCGAGGGCTGAAG	0.617																																						uc003nbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(3526-3528)CGA>CAA		jumonji, AT rich interactive domain 2 protein		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	174.0	148.0	157.0		3527	5.1	1.0	6		157	0,8600		0,0,4300	no	missense	JARID2	NM_004973.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1176/1247	15517468	1,13005	2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15517468G>A	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3527G>A	6.37:g.15517468G>A	ENSP00000341280:p.Arg1176Gln					JARID2_uc011div.1_Missense_Mutation_p.R1004Q	p.R1176Q	NM_004973	NP_004964	Q92833	JARD2_HUMAN			17	3771	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	1176					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.3527G>A	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	36	5.690685	0.96793	2.27E-4	0.0	ENSG00000008083	ENST00000341776;ENST00000397311	D;D	0.88046	-2.33;-2.33	5.12	5.12	0.69794	Zinc finger, C5HC2-type (1);	0.000000	0.85682	D	0.000000	D	0.88009	0.6322	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89006	0.3425	10	0.52906	T	0.07	-10.2368	18.9128	0.92493	0.0:0.0:1.0:0.0	.	1176	Q92833	JARD2_HUMAN	Q	1176;1004	ENSP00000341280:R1176Q;ENSP00000380478:R1004Q	ENSP00000341280:R1176Q	R	+	2	0	JARID2	15625447	1.000000	0.71417	0.976000	0.42696	0.985000	0.73830	9.813000	0.99286	2.544000	0.85801	0.555000	0.69702	CGA		PASS	0.617	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		28	197	28	197	---	---	---	---
HIST1H3B	8358	broad.mit.edu	37	6	26032007	26032007	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:26032007C>A	ENST00000244661.2	-	1	281	c.282G>T	c.(280-282)caG>caT	p.Q94H		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	94					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.Q94H(1)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CACAAGCCTCCTGCAGCGCCA	0.557																																						uc003nfs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(280-282)CAG>CAT		histone cluster 1, H3b							71.0	73.0	72.0					6																	26032007		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26032007C>A	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.282G>T	6.37:g.26032007C>A	ENSP00000244661:p.Gln94His						p.Q94H	NM_003537	NP_003528	P68431	H31_HUMAN			1	282	-			94					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.282G>T	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	8.195	0.796806	0.16327	.	.	ENSG00000124693	ENST00000244661	T	0.72051	-0.62	5.07	3.27	0.37495	.	.	.	.	.	T	0.72036	0.3411	.	.	.	0.36111	D	0.844784	.	.	.	.	.	.	T	0.76002	-0.3118	6	0.87932	D	0	.	14.0236	0.64573	0.0:0.8671:0.0:0.1329	.	.	.	.	H	94	ENSP00000244661:Q94H	ENSP00000244661:Q94H	Q	-	3	2	HIST1H3B	26139986	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	3.100000	0.50275	0.251000	0.21505	-2.069000	0.00389	CAG		PASS	0.557	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		25	158	25	158	---	---	---	---
OR11A1	26531	broad.mit.edu	37	6	29394932	29394932	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:29394932G>T	ENST00000377149.1	-	5	959	c.487C>A	c.(487-489)Ctg>Atg	p.L163M	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.L163M|OR11A1_ENST00000377147.2_Missense_Mutation_p.L163M			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L163M(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGGGCCACCAGGGCCACAACC	0.582																																						uc003nmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(487-489)CTG>ATG		olfactory receptor, family 11, subfamily A,							49.0	53.0	52.0					6																	29394932		1508	2709	4217	SO:0001583	missense	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29394932G>T		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.487C>A	6.37:g.29394932G>T	ENSP00000366354:p.Leu163Met						p.L163M	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	578	-			163			Extracellular (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	c.487C>A	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871679	0.33069	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.00164	8.64;8.64;8.64	3.78	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31495	N	0.007547	T	0.00109	0.0003	L	0.47190	1.495	0.27855	N	0.940615	P	0.49696	0.927	P	0.55667	0.781	T	0.03483	-1.1032	10	0.56958	D	0.05	-12.3562	6.4638	0.21970	0.1019:0.0:0.7194:0.1787	.	163	Q9GZK7	O11A1_HUMAN	M	163	ENSP00000366353:L163M;ENSP00000366354:L163M;ENSP00000366352:L163M	ENSP00000366352:L163M	L	-	1	2	OR11A1	29502911	0.000000	0.05858	0.332000	0.25469	0.784000	0.44337	0.102000	0.15272	0.781000	0.33589	0.405000	0.27470	CTG		PASS	0.582	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			11	61	11	61	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29574954	29574954	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:29574954G>A	ENST00000377034.4	-	17	2369	c.2034C>T	c.(2032-2034)taC>taT	p.Y678Y	GABBR1_ENST00000377012.4_Silent_p.Y561Y|GABBR1_ENST00000377016.4_Silent_p.Y616Y|GABBR1_ENST00000355973.3_Silent_p.Y561Y|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	678					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.Y678Y(2)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ACATGGAACCGTAGCCCAGAC	0.562																																						uc003nmt.3																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|liver(1)|skin(1)	7						c.(2032-2034)TAC>TAT		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						92.0	89.0	90.0					6																	29574954		2203	4300	6503	SO:0001819	synonymous_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29574954G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2034C>T	6.37:g.29574954G>A						GABBR1_uc003nmp.3_Silent_p.Y561Y|GABBR1_uc003nms.3_Silent_p.Y561Y|GABBR1_uc003nmu.3_Silent_p.Y616Y|GABBR1_uc011dlr.1_Silent_p.Y501Y	p.Y678Y	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			17	2370	-			678			Helical; Name=3; (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.2034C>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	g	5.206	0.223444	0.09863	.	.	ENSG00000204681	ENST00000485026	.	.	.	4.57	-2.31	0.06765	.	.	.	.	.	T	0.39436	0.1078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44498	-0.9324	4	.	.	.	-16.7265	9.5377	0.39233	0.5651:0.0:0.4349:0.0	.	.	.	.	W	59	.	.	R	-	1	2	GABBR1	29682933	0.435000	0.25577	0.994000	0.49952	0.617000	0.37484	-0.238000	0.08977	-0.462000	0.06984	-1.320000	0.01293	CGG		PASS	0.562	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			32	118	32	118	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30856996	30856996	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:30856996G>T	ENST00000324771.8	+	6	754	c.206G>T	c.(205-207)gGg>gTg	p.G69V	DDR1_ENST00000446312.1_Missense_Mutation_p.G69V|DDR1_ENST00000513240.1_Missense_Mutation_p.G69V|DDR1_ENST00000454612.2_Missense_Mutation_p.G69V|DDR1_ENST00000376567.2_Missense_Mutation_p.G69V|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376570.4_Missense_Mutation_p.G69V|DDR1_ENST00000452441.1_Missense_Mutation_p.G69V|DDR1_ENST00000376568.3_Missense_Mutation_p.G69V|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000376575.3_Missense_Mutation_p.G69V|DDR1_ENST00000418800.2_Missense_Mutation_p.G69V|DDR1_ENST00000376569.3_Missense_Mutation_p.G69V|DDR1_ENST00000508312.1_Missense_Mutation_p.G87V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	69	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G69V(3)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGCAGTGACGGGGATGGGGCC	0.602																																						uc003nrr.2																			3	Substitution - Missense(3)		lung(3)	lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(205-207)GGG>GTG		discoidin domain receptor family, member 1	Imatinib(DB00619)						173.0	194.0	186.0					6																	30856996		1510	2707	4217	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30856996G>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.206G>T	6.37:g.30856996G>T	ENSP00000318217:p.Gly69Val					DDR1_uc010jse.2_Missense_Mutation_p.G69V|DDR1_uc003nrq.2_Missense_Mutation_p.G69V|DDR1_uc003nrs.2_Missense_Mutation_p.G69V|DDR1_uc003nrt.2_Missense_Mutation_p.G69V|DDR1_uc011dms.1_Missense_Mutation_p.G87V|DDR1_uc011dmt.1_Missense_Mutation_p.G95V|DDR1_uc003nru.2_Missense_Mutation_p.G69V|DDR1_uc011dmu.1_Missense_Mutation_p.G69V|DDR1_uc003nrv.2_Missense_Mutation_p.G69V|DDR1_uc003nrw.1_5'Flank	p.G69V	NM_013993	NP_054699	Q08345	DDR1_HUMAN			5	465	+			69			Extracellular (Potential).|F5/8 type C.		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.206G>T	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872388	0.72180	.	.	ENSG00000204580	ENST00000505066;ENST00000460944;ENST00000324771;ENST00000505534;ENST00000508317;ENST00000418800;ENST00000509639;ENST00000507901;ENST00000454612;ENST00000507046;ENST00000437124;ENST00000396342;ENST00000504651;ENST00000512694;ENST00000515233;ENST00000515881;ENST00000376569;ENST00000511510;ENST00000376575;ENST00000376570;ENST00000446312;ENST00000504927;ENST00000428153;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000512336;ENST00000421124;ENST00000512725;ENST00000504679;ENST00000503495;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;D;D;T;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.38;-5.49;-5.49;-5.49;-5.38;-5.49;-0.49;-5.49;-5.49;-5.38;-5.49;-5.49;-5.38;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49;-5.49	4.84	3.98	0.46160	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.062472	0.64402	D	0.000006	D	0.99077	0.9683	M	0.85777	2.775	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99808	1.1039	10	0.87932	D	0	.	10.8298	0.46654	0.0922:0.0:0.9078:0.0	.	69;95;87;69;69	Q08345-4;B7Z3A2;B7Z2K0;Q08345-5;Q08345	.;.;.;.;DDR1_HUMAN	V	69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;69;87;69;69;69;69;95;69;69	ENSP00000421189:G69V;ENSP00000426420:G69V;ENSP00000318217:G69V;ENSP00000420833:G69V;ENSP00000427369:G69V;ENSP00000407699:G69V;ENSP00000422331:G69V;ENSP00000424703:G69V;ENSP00000406091:G69V;ENSP00000425713:G69V;ENSP00000394273:G69V;ENSP00000379631:G69V;ENSP00000424758:G69V;ENSP00000426229:G69V;ENSP00000422467:G69V;ENSP00000423492:G69V;ENSP00000365753:G69V;ENSP00000425113:G69V;ENSP00000365759:G69V;ENSP00000365754:G69V;ENSP00000405998:G69V;ENSP00000427597:G69V;ENSP00000390593:G69V;ENSP00000365752:G69V;ENSP00000405039:G69V;ENSP00000422442:G87V;ENSP00000421719:G69V;ENSP00000409682:G69V;ENSP00000422108:G69V;ENSP00000423906:G69V;ENSP00000423749:G95V;ENSP00000365751:G69V;ENSP00000427552:G69V	ENSP00000318217:G69V	G	+	2	0	DDR1	30964975	1.000000	0.71417	0.872000	0.34217	0.921000	0.55340	7.562000	0.82300	1.265000	0.44215	0.305000	0.20034	GGG		PASS	0.602	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		71	484	71	484	---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31725965	31725965	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:31725965G>A	ENST00000375755.3	+	13	1324	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000375703.3_Silent_p.L346L|MSH5_ENST00000375750.3_Silent_p.L346L|MSH5_ENST00000431848.2_Silent_p.L45L|MSH5_ENST00000375740.3_Silent_p.L363L|MSH5_ENST00000534153.4_Silent_p.L363L|MSH5_ENST00000375742.3_Silent_p.L363L|MSH5_ENST00000395853.1_Silent_p.L20L|MSH5-SAPCD1_ENST00000493662.2_Silent_p.L363L	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	346					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.L346L(1)|p.L363L(1)		breast(1)|ovary(2)|skin(2)	5						CCCTGGGCCTGAGGGATGCCT	0.567								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(1036-1038)CTG>CTA	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							81.0	75.0	77.0					6																	31725965		1507	2708	4215	SO:0001819	synonymous_variant	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31725965G>A	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1038G>A	6.37:g.31725965G>A						MSH5_uc003nwt.1_Silent_p.L363L|MSH5_uc003nwu.1_Silent_p.L346L|MSH5_uc003nww.1_Silent_p.L346L|MSH5_uc003nwx.1_Silent_p.L363L|MSH5_uc011dof.1_Silent_p.L45L|MSH5_uc003nwy.1_Silent_p.L20L|MSH5_uc003nwz.3_5'Flank	p.L346L	NM_172166	NP_751898	O43196	MSH5_HUMAN			13	1117	+			346					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	ENST00000375755.3	37	c.1038G>A	CCDS4720.1																																																																																				PASS	0.567	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			8	66	8	66	---	---	---	---
ZBTB12	221527	broad.mit.edu	37	6	31868898	31868898	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:31868898A>G	ENST00000375527.2	-	2	360	c.185T>C	c.(184-186)tTc>tCc	p.F62S	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.N19D	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	62	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F62S(1)		endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GTTCAGCAGGAACTGGTCCCG	0.622																																						uc011dop.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(55-57)AAC>GAC		complement component 2 isoform 2 preproprotein							49.0	41.0	44.0					6																	31868898		2203	4300	6503	SO:0001583	missense	717				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr6:31868898A>G	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.185T>C	6.37:g.31868898A>G	ENSP00000364677:p.Phe62Ser					C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|ZBTB12_uc003nyd.1_Missense_Mutation_p.F62S	p.N19D	NM_001145903	NP_001139375	P06681	CO2_HUMAN		LUAD - Lung adenocarcinoma(999;0.247)	1	123	+		Ovarian(999;0.00965)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.55A>G	CCDS4727.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.9|23.9	4.470916|4.470916	0.84533|0.84533	.|.	.|.	ENSG00000204366|ENSG00000166278	ENST00000375527|ENST00000452323;ENST00000452202	T|D;T	0.75477|0.86769	-0.94|-2.17;1.51	4.46|4.46	4.46|4.46	0.54185|0.54185	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.86439|0.86439	0.5933|0.5933	M|M	0.92317|0.92317	3.295|3.295	0.54753|0.54753	D|D	0.999989|0.999989	D|P	0.69078|0.51449	0.997|0.945	D|P	0.81914|0.45377	0.995|0.478	D|D	0.86502|0.86502	0.1804|0.1804	10|9	0.52906|0.18276	T|T	0.07|0.48	.|.	12.7159|12.7159	0.57115|0.57115	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	62|19	Q9Y330|B4DPF3	ZBT12_HUMAN|.	S|D	62|19	ENSP00000364677:F62S|ENSP00000392322:N19D;ENSP00000406121:N19D	ENSP00000364677:F62S|ENSP00000406121:N19D	F|N	-|+	2|1	0|0	ZBTB12|C2	31976877|31976877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.913000|5.913000	0.69957|0.69957	1.649000|1.649000	0.50652|0.50652	0.443000|0.443000	0.29094|0.29094	TTC|AAC		PASS	0.622	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		29	143	29	143	---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33626839	33626840	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:33626839_33626840CG>AT	ENST00000374316.5	+	7	1630_1631	c.570_571CG>AT	c.(568-573)gcCGgg>gcATgg	p.G191W	ITPR3_ENST00000605930.1_Missense_Mutation_p.G191W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	191	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.G191W(4)|p.A190A(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTGTCAATGCCGGGCAGCCTCT	0.634																																						uc011drk.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(568-570)GCC>GCA|c.(571-573)GGG>TGG		inositol 1,4,5-triphosphate receptor, type 3																																				SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33626839C>A|g.chr6:33626840G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	Exception_encountered	6.37:g.33626839_33626840delinsAT	ENSP00000363435:p.Gly191Trp						p.A190A|p.G191W	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			6	789|790	+			190|191			Cytoplasmic (Potential).|MIR 2.		Q14649|Q5TAQ2	Silent|Missense_Mutation	SNP	ENST00000374316.5	37	c.570C>A|c.571G>T	CCDS4783.1																																																																																				PASS	0.634	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		35|31	255|257	31	255	---	---	---	---
KCTD20	222658	broad.mit.edu	37	6	36447401	36447401	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:36447401G>C	ENST00000373731.2	+	5	962	c.571G>C	c.(571-573)Gat>Cat	p.D191H	KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_Missense_Mutation_p.D46H|KCTD20_ENST00000449081.2_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	191	BTB.				protein homooligomerization (GO:0051260)			p.D191H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CAATTGTCCTGATGGCATCTC	0.358																																						uc003ome.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(571-573)GAT>CAT		potassium channel tetramerisation domain							134.0	126.0	129.0					6																	36447401		2203	4300	6503	SO:0001583	missense	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36447401G>C	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.571G>C	6.37:g.36447401G>C	ENSP00000362836:p.Asp191His					KCTD20_uc011dtm.1_Missense_Mutation_p.D46H|KCTD20_uc011dtn.1_Intron|KCTD20_uc010jwk.2_Intron|KCTD20_uc011dto.1_Intron	p.D191H	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN			5	962	+			191			BTB.		B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	c.571G>C	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760397	0.89932	.	.	ENSG00000112078	ENST00000373731;ENST00000536244	T;T	0.80033	-1.33;-1.33	5.01	5.01	0.66863	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.066066	0.64402	D	0.000013	D	0.82568	0.5065	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84175	0.0436	10	0.59425	D	0.04	-26.4327	18.5249	0.90968	0.0:0.0:1.0:0.0	.	191	Q7Z5Y7	KCD20_HUMAN	H	191;46	ENSP00000362836:D191H;ENSP00000439118:D46H	ENSP00000362836:D191H	D	+	1	0	KCTD20	36555379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.602000	0.87976	0.591000	0.81541	GAT		PASS	0.358	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		4	163	4	163	---	---	---	---
TSPO2	222642	broad.mit.edu	37	6	41010728	41010728	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:41010728C>T	ENST00000373161.1	+	2	249	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	TSPO2_ENST00000373158.2_Missense_Mutation_p.R2W|TSPO2_ENST00000470917.1_Missense_Mutation_p.R2W	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	2					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)	p.R2W(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AAGGTGAATGCGGCTTCAAGG	0.582																																						uc003opj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)CGG>TGG		benzodiazapine receptor (peripheral)-like 1							109.0	91.0	97.0					6																	41010728		2203	4300	6503	SO:0001583	missense	222642				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	g.chr6:41010728C>T		CCDS34444.1	6p21.1	2009-09-18	2009-09-04	2009-09-04	ENSG00000112212	ENSG00000112212			21256	protein-coding gene	gene with protein product	"""similar to RIKEN cDNA 2510027D20"""		"""benzodiazapine receptor (peripheral)-like 1"""	BZRPL1		19729679	Standard	NM_001010873		Approved	dJ34B21.2	uc003opj.3	Q5TGU0	OTTHUMG00000014666	ENST00000373161.1:c.4C>T	6.37:g.41010728C>T	ENSP00000362255:p.Arg2Trp					UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Silent_p.C11C|TSPO2_uc011dub.1_Missense_Mutation_p.R2W	p.R2W	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN			2	305	+			2					B2RPR2|B7ZMN8|Q3SX82	Missense_Mutation	SNP	ENST00000373161.1	37	c.4C>T	CCDS34444.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493951	0.26774	.	.	ENSG00000112212	ENST00000373161;ENST00000373158;ENST00000470917	T;T	0.48201	0.82;0.82	4.54	-2.57	0.06248	.	0.478686	0.25004	N	0.033889	T	0.07503	0.0189	N	0.08118	0	0.20489	N	0.999892	B	0.06786	0.001	B	0.01281	0.0	T	0.23904	-1.0175	10	0.46703	T	0.11	-1.1641	4.3125	0.10977	0.3319:0.4822:0.0:0.1859	.	2	Q5TGU0	TSPO2_HUMAN	W	2	ENSP00000362255:R2W;ENSP00000419985:R2W	ENSP00000362252:R2W	R	+	1	2	TSPO2	41118706	0.988000	0.35896	0.313000	0.25210	0.234000	0.25298	-0.021000	0.12504	-0.562000	0.06086	-0.324000	0.08512	CGG		PASS	0.582	TSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040493.1	NM_001010873.2		4	115	4	115	---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42631065	42631065	+	Silent	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:42631065T>C	ENST00000372899.1	+	32	3864	c.3606T>C	c.(3604-3606)gaT>gaC	p.D1202D	RNU6-890P_ENST00000384121.1_RNA|UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Silent_p.D1202D	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1202					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D1202D(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGAGCTATGATGTAGAAAACG	0.368																																						uc011dur.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(3604-3606)GAT>GAC		ubiquitin protein ligase E3 component n-recognin							184.0	164.0	171.0					6																	42631065		2203	4300	6503	SO:0001819	synonymous_variant	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42631065T>C	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3606T>C	6.37:g.42631065T>C						UBR2_uc011dus.1_Silent_p.D847D|UBR2_uc003osh.2_RNA	p.D1202D	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		32	3606	+	Colorectal(47;0.196)		1202			RING-type; atypical.		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	c.3606T>C	CCDS4870.1																																																																																				PASS	0.368	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		30	112	30	112	---	---	---	---
PTCRA	171558	broad.mit.edu	37	6	42883813	42883813	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:42883813C>T	ENST00000304672.1	+	1	87	c.6C>T	c.(4-6)gcC>gcT	p.A2A	PTCRA_ENST00000446507.1_Silent_p.A2A|PTCRA_ENST00000441198.1_Silent_p.A2A	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	2					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)		p.A2A(1)		large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GGGCCATGGCCGGTACATGGC	0.642																																						uc003osx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(4-6)GCC>GCT		pre T-cell antigen receptor alpha precursor							116.0	94.0	102.0					6																	42883813		2203	4300	6503	SO:0001819	synonymous_variant	171558					integral to membrane	receptor activity	g.chr6:42883813C>T	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.6C>T	6.37:g.42883813C>T						PTCRA_uc011duz.1_5'UTR|PTCRA_uc010jxx.1_Silent_p.A2A|PTCRA_uc010jxy.2_Silent_p.A2A|PTCRA_uc010jxz.2_Silent_p.A2A	p.A2A	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		1	87	+	Colorectal(47;0.196)		2					Q5TFZ7	Silent	SNP	ENST00000304672.1	37	c.6C>T	CCDS4874.1																																																																																				PASS	0.642	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		27	123	27	123	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46836746	46836746	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:46836746A>T	ENST00000283296.7	-	12	1783	c.1495T>A	c.(1495-1497)Tat>Aat	p.Y499N	GPR116_ENST00000456426.2_Missense_Mutation_p.Y357N|GPR116_ENST00000265417.7_Missense_Mutation_p.Y499N|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000362015.4_Missense_Mutation_p.Y499N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	499	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y499N(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACCTCATCATAGTTACTCACA	0.373																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1495-1497)TAT>AAT		G-protein coupled receptor 116 precursor							87.0	87.0	87.0					6																	46836746		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46836746A>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1495T>A	6.37:g.46836746A>T	ENSP00000283296:p.Tyr499Asn					GPR116_uc011dwj.1_Missense_Mutation_p.Y54N|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.Y357N|GPR116_uc003oyq.3_Missense_Mutation_p.Y499N|GPR116_uc010jzi.1_Missense_Mutation_p.Y171N	p.Y499N	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		12	1784	-			499			Ig-like 3.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1495T>A	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337714	0.60963	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.21734	2.74;2.74;1.99;2.74	5.47	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.113706	0.39759	N	0.001273	T	0.18425	0.0442	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	0.995;0.999;1.0;0.999	P;D;D;D	0.77004	0.873;0.988;0.989;0.988	T	0.06110	-1.0845	10	0.87932	D	0	-10.6135	5.6223	0.17463	0.7677:0.0:0.0814:0.1509	.	54;499;357;499	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	N	499;499;499;357;499	ENSP00000283296:Y499N;ENSP00000354563:Y499N;ENSP00000412866:Y357N;ENSP00000265417:Y499N	ENSP00000265417:Y499N	Y	-	1	0	GPR116	46944705	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	4.016000	0.57159	0.906000	0.36621	0.482000	0.46254	TAT		PASS	0.373	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		18	94	18	94	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47681722	47681722	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:47681722C>G	ENST00000283303.2	+	6	999	c.741C>G	c.(739-741)atC>atG	p.I247M	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.I247M|GPR115_ENST00000371220.1_Missense_Mutation_p.I304M	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	247					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I247M(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGTTTCACATCAACCATAATA	0.393																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(739-741)ATC>ATG		G-protein coupled receptor 115 precursor							84.0	81.0	82.0					6																	47681722		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681722C>G	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.741C>G	6.37:g.47681722C>G	ENSP00000283303:p.Ile247Met					GPR115_uc003oyz.1_Missense_Mutation_p.I304M|GPR115_uc003ozb.1_Missense_Mutation_p.I245M	p.I247M	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	999	+			247			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.741C>G	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	4.645	0.119913	0.08881	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.38560	1.36;1.13;1.13	5.19	3.39	0.38822	.	0.167542	0.41712	D	0.000822	T	0.23926	0.0579	M	0.73962	2.25	0.09310	N	0.999996	B	0.28512	0.214	B	0.34038	0.174	T	0.30534	-0.9975	10	0.87932	D	0	-17.3555	3.8401	0.08911	0.1854:0.5591:0.0:0.2555	.	247	Q8IZF3	GP115_HUMAN	M	304;247;247	ENSP00000360264:I304M;ENSP00000328319:I247M;ENSP00000283303:I247M	ENSP00000283303:I247M	I	+	3	3	GPR115	47789681	0.271000	0.24162	0.257000	0.24404	0.170000	0.22686	0.629000	0.24538	1.315000	0.45114	0.655000	0.94253	ATC		PASS	0.393	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		16	106	16	106	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47682288	47682288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:47682288C>A	ENST00000283303.2	+	6	1565	c.1307C>A	c.(1306-1308)tCa>tAa	p.S436*	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Nonsense_Mutation_p.S436*|GPR115_ENST00000371220.1_Nonsense_Mutation_p.S493*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	436					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S436*(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACGGAGATATCATACATGCGT	0.488																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1306-1308)TCA>TAA		G-protein coupled receptor 115 precursor							221.0	195.0	204.0					6																	47682288		2203	4300	6503	SO:0001587	stop_gained	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682288C>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1307C>A	6.37:g.47682288C>A	ENSP00000283303:p.Ser436*					GPR115_uc003oyz.1_Nonsense_Mutation_p.S493*|GPR115_uc003ozb.1_Nonsense_Mutation_p.S434*	p.S436*	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1565	+			436			Cytoplasmic (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Nonsense_Mutation	SNP	ENST00000283303.2	37	c.1307C>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	38	6.763176	0.97821	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	.	.	.	5.45	5.45	0.79879	.	0.310059	0.28214	N	0.016177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.04	18.6292	0.91354	0.0:1.0:0.0:0.0	.	.	.	.	X	493;436;436	.	ENSP00000283303:S436X	S	+	2	0	GPR115	47790247	0.976000	0.34144	1.000000	0.80357	0.468000	0.32798	5.746000	0.68681	2.721000	0.93114	0.655000	0.94253	TCA		PASS	0.488	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		57	277	57	277	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47682589	47682589	+	Silent	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:47682589C>A	ENST00000283303.2	+	6	1866	c.1608C>A	c.(1606-1608)atC>atA	p.I536I	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Silent_p.I536I|GPR115_ENST00000371220.1_Silent_p.I593I	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	536					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I536M(1)|p.I536I(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CAGTTGCTATCACAGAGCCAG	0.488																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I536M(1)	upper_aerodigestive_tract(1)|lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1606-1608)ATC>ATA		G-protein coupled receptor 115 precursor							161.0	152.0	155.0					6																	47682589		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682589C>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1608C>A	6.37:g.47682589C>A						GPR115_uc003oyz.1_Silent_p.I593I|GPR115_uc003ozb.1_Silent_p.I534I	p.I536I	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1866	+			536			Helical; Name=4; (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.1608C>A	CCDS4922.2																																																																																				PASS	0.488	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		52	207	52	207	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47682682	47682682	+	Silent	SNP	C	C	T	rs115968193	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:47682682C>T	ENST00000283303.2	+	6	1959	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Silent_p.F567F|GPR115_ENST00000371220.1_Silent_p.F624F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	567					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F567F(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TCCCGGCGTTCGTCATTGTGG	0.473																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1699-1701)TTC>TTT		G-protein coupled receptor 115 precursor							129.0	127.0	128.0					6																	47682682		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682682C>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1701C>T	6.37:g.47682682C>T						GPR115_uc003oyz.1_Silent_p.F624F|GPR115_uc003ozb.1_Silent_p.F565F	p.F567F	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1959	+			567			Helical; Name=5; (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.1701C>T	CCDS4922.2																																																																																				PASS	0.473	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		34	146	34	146	---	---	---	---
GPR115	221393	broad.mit.edu	37	6	47682734	47682734	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:47682734C>G	ENST00000283303.2	+	6	2011	c.1753C>G	c.(1753-1755)Cag>Gag	p.Q585E	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.Q585E|GPR115_ENST00000371220.1_Missense_Mutation_p.Q642E	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	585					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q585E(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGTCAACACTCAGAGGCCCTC	0.473																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1753-1755)CAG>GAG		G-protein coupled receptor 115 precursor							123.0	118.0	120.0					6																	47682734		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682734C>G	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1753C>G	6.37:g.47682734C>G	ENSP00000283303:p.Gln585Glu					GPR115_uc003oyz.1_Missense_Mutation_p.Q642E|GPR115_uc003ozb.1_Missense_Mutation_p.Q583E	p.Q585E	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	2011	+			585			Cytoplasmic (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1753C>G	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748420	0.15710	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.37915	1.17;1.17;1.17	5.39	5.39	0.77823	GPCR, family 2-like (1);	0.198116	0.37348	N	0.002125	T	0.32102	0.0818	L	0.60455	1.87	0.26790	N	0.969425	P	0.45634	0.863	P	0.49953	0.627	T	0.12477	-1.0546	10	0.30078	T	0.28	-7.6233	15.6484	0.77073	0.0:0.8627:0.1373:0.0	.	585	Q8IZF3	GP115_HUMAN	E	642;585;585	ENSP00000360264:Q642E;ENSP00000328319:Q585E;ENSP00000283303:Q585E	ENSP00000283303:Q585E	Q	+	1	0	GPR115	47790693	0.393000	0.25237	1.000000	0.80357	0.367000	0.29736	0.661000	0.25023	2.670000	0.90874	0.655000	0.94253	CAG		PASS	0.473	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		27	159	27	159	---	---	---	---
CRISP1	167	broad.mit.edu	37	6	49814356	49814356	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:49814356A>T	ENST00000335847.4	-	5	413	c.312T>A	c.(310-312)caT>caA	p.H104Q	CRISP1_ENST00000329411.5_Missense_Mutation_p.H104Q|CRISP1_ENST00000355791.2_Missense_Mutation_p.H104Q|CRISP1_ENST00000505118.1_Missense_Mutation_p.H104Q|CRISP1_ENST00000507853.1_Missense_Mutation_p.H104Q|CRISP1_ENST00000536021.1_Missense_Mutation_p.H104Q	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	104	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.H104Q(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AAGATGTCATATGCATATTTT	0.383																																						uc003ozw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)CAT>CAA		acidic epididymal glycoprotein-like 1 isoform 1							194.0	164.0	174.0					6																	49814356		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49814356A>T	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.312T>A	6.37:g.49814356A>T	ENSP00000338276:p.His104Gln					CRISP1_uc003ozx.2_Missense_Mutation_p.H104Q	p.H104Q	NM_001131	NP_001122	P54107	CRIS1_HUMAN			5	391	-	Lung NSC(77;0.0358)		104					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.312T>A	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034217	0.35893	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01;3.01	5.34	-1.93	0.07594	CAP domain (3);	0.951768	0.08760	N	0.897835	T	0.01870	0.0059	N	0.24115	0.695	0.09310	N	1	B;B	0.29301	0.015;0.241	B;B	0.35899	0.014;0.213	T	0.48703	-0.9012	9	.	.	.	.	1.6584	0.02786	0.2632:0.3168:0.2938:0.1262	.	104;104	P54107-2;P54107	.;CRIS1_HUMAN	Q	104	ENSP00000425020:H104Q;ENSP00000338276:H104Q;ENSP00000348044:H104Q;ENSP00000331317:H104Q;ENSP00000427589:H104Q;ENSP00000441798:H104Q	.	H	-	3	2	CRISP1	49922315	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.438000	0.02416	-0.492000	0.06687	-0.263000	0.10527	CAT		PASS	0.383	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		27	109	27	109	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50682828	50682828	+	Splice_Site	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:50682828G>C	ENST00000008391.3	+	2	267		c.e2-1			NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.?(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTTCCTTCCAGATACGTCACG	0.522																																						uc003paf.2																			1	Unknown(1)		lung(1)	ovary(6)|breast(1)	7						c.e2-1		transcription factor AP-2 beta-like 1							91.0	78.0	82.0					6																	50682828		2203	4300	6503	SO:0001630	splice_region_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50682828G>C	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.40-1G>C	6.37:g.50682828G>C						TFAP2D_uc011dwt.1_Splice_Site	p.I14_splice	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			2	552	+	Lung NSC(77;0.0334)								Splice_Site	SNP	ENST00000008391.3	37	c.40_splice	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959804	0.53400	.	.	ENSG00000008197	ENST00000008391	.	.	.	5.67	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1669	0.81768	0.0:0.0:0.8657:0.1343	.	.	.	.	.	-1	.	.	.	+	.	.	TFAP2D	50790787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	1.395000	0.46643	0.655000	0.94253	.		PASS	0.522	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	Intron	29	143	29	143	---	---	---	---
GCM1	8521	broad.mit.edu	37	6	52993008	52993008	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:52993008C>T	ENST00000259803.7	-	6	1518	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	436					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R436K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTTGGGTCATCTCAAAGGACA	0.413																																						uc003pbp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1306-1308)AGA>AAA		glial cells missing homolog a							123.0	127.0	125.0					6																	52993008		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993008C>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1307G>A	6.37:g.52993008C>T	ENSP00000259803:p.Arg436Lys						p.R436K	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	1516	-	Lung NSC(77;0.0755)		436					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.1307G>A	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392340	0.25118	.	.	ENSG00000137270	ENST00000259803	T	0.79352	-1.26	5.55	3.75	0.43078	.	0.090921	0.47455	N	0.000240	T	0.45657	0.1353	N	0.24115	0.695	0.27797	N	0.942608	B	0.21606	0.058	B	0.17098	0.017	T	0.37454	-0.9705	10	0.46703	T	0.11	-15.2002	10.7884	0.46419	0.0:0.8514:0.0:0.1486	.	436	Q9NP62	GCM1_HUMAN	K	436	ENSP00000259803:R436K	ENSP00000259803:R436K	R	-	2	0	GCM1	53100967	0.996000	0.38824	0.997000	0.53966	0.063000	0.16089	1.966000	0.40481	0.690000	0.31570	0.655000	0.94253	AGA		PASS	0.413	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			57	287	57	287	---	---	---	---
GCM1	8521	broad.mit.edu	37	6	52998945	52998945	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:52998945C>A	ENST00000259803.7	-	3	464	c.253G>T	c.(253-255)Gac>Tac	p.D85Y		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	85					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D85Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GCGAGACAGTCGCGGCCGCAC	0.622																																						uc003pbp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(253-255)GAC>TAC		glial cells missing homolog a							100.0	91.0	94.0					6																	52998945		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52998945C>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.253G>T	6.37:g.52998945C>A	ENSP00000259803:p.Asp85Tyr					GCM1_uc010jzr.2_Missense_Mutation_p.D85Y	p.D85Y	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			3	462	-	Lung NSC(77;0.0755)		85			GCM.		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.253G>T	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170891	0.38315	.	.	ENSG00000137270	ENST00000259803	T	0.74737	-0.87	4.84	1.99	0.26369	.	0.295838	0.32503	N	0.006019	T	0.69860	0.3158	L	0.48642	1.525	0.47778	D	0.999513	D	0.69078	0.997	D	0.63957	0.92	T	0.71477	-0.4581	10	0.72032	D	0.01	-7.749	9.0497	0.36369	0.0:0.6745:0.0:0.3255	.	85	Q9NP62	GCM1_HUMAN	Y	85	ENSP00000259803:D85Y	ENSP00000259803:D85Y	D	-	1	0	GCM1	53106904	0.079000	0.21365	0.278000	0.24718	0.279000	0.26890	0.582000	0.23834	0.205000	0.20568	0.655000	0.94253	GAC		PASS	0.622	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			29	118	29	118	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66204664	66204664	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:66204664G>C	ENST00000370621.3	-	4	1166	c.640C>G	c.(640-642)Ctt>Gtt	p.L214V	EYS_ENST00000393380.2_Missense_Mutation_p.L214V|EYS_ENST00000370618.3_Missense_Mutation_p.L214V|EYS_ENST00000503581.1_Missense_Mutation_p.L214V|EYS_ENST00000370616.2_Missense_Mutation_p.L214V|EYS_ENST00000342421.5_Missense_Mutation_p.L214V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	214	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L214V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATGCATCAAGTTCCTGGCAG	0.393																																						uc011dxu.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(640-642)CTT>GTT		eyes shut homolog isoform 1							44.0	42.0	42.0					6																	66204664		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204664G>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.640C>G	6.37:g.66204664G>C	ENSP00000359655:p.Leu214Val					EYS_uc003peq.2_Missense_Mutation_p.L214V|EYS_uc003per.1_Missense_Mutation_p.L214V|EYS_uc010kaj.1_RNA	p.L214V	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			4	1178	-			214			EGF-like 2.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.640C>G		.	.	.	.	.	.	.	.	.	.	G	5.713	0.316024	0.10789	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.81	0.722	0.18225	.	.	.	.	.	T	0.40719	0.1128	N	0.01091	-1.02	0.19775	N	0.999955	B;B;B	0.15473	0.001;0.011;0.013	B;B;B	0.21708	0.004;0.013;0.036	T	0.45308	-0.9270	9	0.24483	T	0.36	.	4.1204	0.10103	0.2556:0.3618:0.3826:0.0	.	214;214;214	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	214	ENSP00000424243:L214V;ENSP00000359655:L214V;ENSP00000359650:L214V;ENSP00000377042:L214V;ENSP00000341818:L214V;ENSP00000359652:L214V	ENSP00000341818:L214V	L	-	1	0	EYS	66261385	0.139000	0.22563	0.249000	0.24280	0.986000	0.74619	0.135000	0.15952	0.531000	0.28639	0.591000	0.81541	CTT		PASS	0.393	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		16	37	16	37	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75852968	75852968	+	Splice_Site	SNP	C	C	G	rs372692696		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:75852968C>G	ENST00000322507.8	-	26	5136	c.4827G>C	c.(4825-4827)gaG>gaC	p.E1609D	COL12A1_ENST00000345356.6_Splice_Site_p.E445D|COL12A1_ENST00000483888.2_Splice_Site_p.E1609D|COL12A1_ENST00000416123.2_Splice_Site_p.E1609D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1609	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.E1609D(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCAACCTACCTCTTTGACAT	0.338																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(4825-4827)GAG>GAC		collagen, type XII, alpha 1 long isoform							173.0	156.0	161.0					6																	75852968		1840	4093	5933	SO:0001630	splice_region_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75852968C>G	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4827+1G>C	6.37:g.75852968C>G						COL12A1_uc003pht.2_Missense_Mutation_p.E445D	p.E1609D	NM_004370	NP_004361	Q99715	COCA1_HUMAN			26	4993	-			1609			Fibronectin type-III 11.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.4827G>C	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.07|17.07	3.294129|3.294129	0.60086|0.60086	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	T;T;T;T|.	0.60171|.	0.21;0.21;0.21;0.21|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.304354|.	0.35495|.	N|.	0.003165|.	T|T	0.80259|0.80259	0.4590|0.4590	M|M	0.84082|0.84082	2.675|2.675	0.47819|0.47819	D|D	0.999521|0.999521	P;B|.	0.45634|.	0.863;0.25|.	B;B|.	0.43536|.	0.423;0.077|.	T|T	0.80236|0.80236	-0.1466|-0.1466	10|5	0.56958|.	D|.	0.05|.	.|.	20.0586|20.0586	0.97663|0.97663	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	445;1609|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	D|R	1609;1609;445;1609;1609|351	ENSP00000325146:E1609D;ENSP00000305147:E445D;ENSP00000412864:E1609D;ENSP00000421216:E1609D|.	ENSP00000325146:E1609D|.	E|G	-|-	3|1	2|0	COL12A1|COL12A1	75909688|75909688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	4.204000|4.204000	0.58460|0.58460	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	GAG|GGT		PASS	0.338	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Missense_Mutation	4	134	4	134	---	---	---	---
MICAL1	64780	broad.mit.edu	37	6	109767339	109767339	+	Splice_Site	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:109767339C>A	ENST00000358807.3	-	19	2892	c.2581G>T	c.(2581-2583)Gct>Tct	p.A861S	MICAL1_ENST00000368952.4_Splice_Site_p.A880S|MICAL1_ENST00000358577.3_Splice_Site_p.A775S	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	861					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.A861S(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GATGGGTTACCTTGAGGGCTC	0.647																																						uc003ptj.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(2581-2583)GCT>TCT		microtubule associated monoxygenase, calponin							22.0	25.0	24.0					6																	109767339		2203	4298	6501	SO:0001630	splice_region_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109767339C>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2581+1G>T	6.37:g.109767339C>A						MICAL1_uc003ptk.2_Missense_Mutation_p.A861S|MICAL1_uc010kdr.2_Missense_Mutation_p.A775S|MICAL1_uc011eaq.1_Missense_Mutation_p.A880S	p.A861S	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	18	2835	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	861					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2581G>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442413	0.43326	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.51325	0.71;0.71;0.71	5.3	4.4	0.53042	.	1.056830	0.07403	N	0.891178	T	0.16300	0.0392	N	0.19112	0.55	0.24242	N	0.995355	B;B;B	0.30605	0.02;0.287;0.006	B;B;B	0.26864	0.016;0.074;0.01	T	0.03534	-1.1027	9	.	.	.	.	11.0024	0.47614	0.0:0.7971:0.2029:0.0	.	880;775;861	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	S	861;880;775;385;117	ENSP00000351664:A861S;ENSP00000357948:A880S;ENSP00000351385:A775S	.	A	-	1	0	MICAL1	109874032	0.998000	0.40836	1.000000	0.80357	0.493000	0.33554	1.991000	0.40727	2.757000	0.94681	0.655000	0.94253	GCT		PASS	0.647	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765	Missense_Mutation	3	50	3	50	---	---	---	---
PLN	5350	broad.mit.edu	37	6	118880183	118880183	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:118880183C>G	ENST00000357525.5	+	2	291	c.99C>G	c.(97-99)atC>atG	p.I33M	CEP85L_ENST00000392500.3_Intron|CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000419517.2_Intron|CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000368488.5_Intron	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN	phospholamban	33					adrenergic receptor signaling pathway involved in heart process (GO:0086023)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cardiac muscle tissue development (GO:0048738)|cytosolic calcium ion homeostasis (GO:0051480)|negative regulation of ATPase activity (GO:0032780)|negative regulation of calcium ion binding (GO:1901877)|negative regulation of calcium ion import (GO:0090281)|negative regulation of calcium ion import into sarcoplasmic reticulum (GO:1902081)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium-transporting ATPase activity (GO:1901895)|negative regulation of catalytic activity (GO:0043086)|negative regulation of heart rate (GO:0010459)|protein homooligomerization (GO:0051260)|regulation of calcium ion transport (GO:0051924)|regulation of calcium-transporting ATPase activity (GO:1901894)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart contraction (GO:0008016)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of the force of heart contraction by cardiac conduction (GO:0086092)|relaxation of cardiac muscle (GO:0055119)|response to testosterone (GO:0033574)|response to zinc ion (GO:0010043)	calcium ion-transporting ATPase complex (GO:0090534)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|vesicle (GO:0031982)	ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calcium channel regulator activity (GO:0005246)|enzyme inhibitor activity (GO:0004857)|identical protein binding (GO:0042802)	p.I33I(1)|p.I33M(1)		large_intestine(1)|lung(3)	4		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		ATCTATTTATCAATTTCTGTC	0.413																																						uc003pye.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(97-99)ATC>ATG		phospholamban							183.0	165.0	171.0					6																	118880183		2203	4300	6503	SO:0001583	missense	5350				blood circulation|regulation of calcium ion transport	integral to membrane|mitochondrial membrane|sarcoplasmic reticulum	calcium channel regulator activity|protein binding	g.chr6:118880183C>G		CCDS5120.1	6q22.1	2014-09-17			ENSG00000198523	ENSG00000198523			9080	protein-coding gene	gene with protein product		172405		PLB		1828805	Standard	NM_002667		Approved	CMD1P	uc003pye.3	P26678	OTTHUMG00000015462	ENST00000357525.5:c.99C>G	6.37:g.118880183C>G	ENSP00000350132:p.Ile33Met					C6orf204_uc003pxz.1_Intron|C6orf204_uc003pya.1_Intron|C6orf204_uc003pyb.2_Intron|C6orf204_uc011ebj.1_Intron|C6orf204_uc003pyc.2_Intron	p.I33M	NM_002667	NP_002658	P26678	PPLA_HUMAN		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)	2	310	+		all_cancers(87;0.0916)|all_epithelial(87;0.131)	33			Helical; (Potential).			Missense_Mutation	SNP	ENST00000357525.5	37	c.99C>G	CCDS5120.1	.	.	.	.	.	.	.	.	.	.	C	7.976	0.750172	0.15778	.	.	ENSG00000198523	ENST00000357525	D	0.88896	-2.44	5.57	3.57	0.40892	.	0.160052	0.39834	N	0.001253	T	0.77315	0.4112	.	.	.	0.38405	D	0.945777	B	0.23735	0.09	B	0.18871	0.023	T	0.78401	-0.2218	9	0.66056	D	0.02	-5.0362	11.0344	0.47791	0.3083:0.584:0.1077:0.0	.	33	P26678	PPLA_HUMAN	M	33	ENSP00000350132:I33M	ENSP00000350132:I33M	I	+	3	3	PLN	118986876	1.000000	0.71417	0.994000	0.49952	0.111000	0.19643	0.986000	0.29590	1.312000	0.45043	0.655000	0.94253	ATC		PASS	0.413	PLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041993.1	NM_002667		32	191	32	191	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128151032	128151032	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:128151032C>G	ENST00000368248.2	-	3	446	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	THEMIS_ENST00000537166.1_Missense_Mutation_p.E65Q|THEMIS_ENST00000368250.1_Missense_Mutation_p.E21Q|THEMIS_ENST00000543064.1_Missense_Mutation_p.E100Q	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	100	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E100Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTTGTGATTTCTTCCATAGTA	0.363																																						uc003qbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(298-300)GAA>CAA		thymocyte selection pathway associated isoform							56.0	56.0	56.0					6																	128151032		2203	4299	6502	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128151032C>G	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.298G>C	6.37:g.128151032C>G	ENSP00000357231:p.Glu100Gln					THEMIS_uc010kfa.2_Missense_Mutation_p.E3Q|THEMIS_uc011ebt.1_Missense_Mutation_p.E100Q|THEMIS_uc010kfb.2_Missense_Mutation_p.E65Q	p.E100Q	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			4	617	-			100			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.298G>C	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701706	0.88924	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	6.14	6.14	0.99180	.	0.052463	0.64402	D	0.000001	T	0.48352	0.1495	M	0.74881	2.28	0.49915	D	0.999839	D;D	0.76494	0.999;0.997	D;D	0.70935	0.965;0.971	T	0.42699	-0.9436	10	0.72032	D	0.01	-22.5971	20.8597	0.99761	0.0:1.0:0.0:0.0	.	100;100	F5H1J9;Q8N1K5	.;THMS1_HUMAN	Q	21;100;100;65	ENSP00000357233:E21Q;ENSP00000439594:E100Q;ENSP00000357231:E100Q;ENSP00000439863:E65Q	ENSP00000357231:E100Q	E	-	1	0	THEMIS	128192725	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.013000	0.70776	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.363	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		33	123	33	123	---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152129166	152129166	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:152129166G>T	ENST00000206249.3	+	1	481	c.119G>T	c.(118-120)gGc>gTc	p.G40V	ESR1_ENST00000338799.5_Missense_Mutation_p.G40V|ESR1_ENST00000443427.1_Missense_Mutation_p.G40V|ESR1_ENST00000406599.1_Missense_Mutation_p.G40V|ESR1_ENST00000440973.1_Missense_Mutation_p.G40V|ESR1_ENST00000427531.2_5'Flank|ESR1_ENST00000456483.2_Missense_Mutation_p.G40V	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	40	Interaction with DDX5; self-association.|Modulating (transactivation AF-1); mediates interaction with MACROD1.|Required for interaction with NCOA1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G40V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CGGCCCCTGGGCGAGGTGTAC	0.662																																						uc003qom.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(118-120)GGC>GTC		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						23.0	27.0	25.0					6																	152129166		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152129166G>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.119G>T	6.37:g.152129166G>T	ENSP00000206249:p.Gly40Val					ESR1_uc010kin.2_Missense_Mutation_p.G40V|ESR1_uc010kio.2_Missense_Mutation_p.G40V|ESR1_uc010kip.2_Missense_Mutation_p.G40V|ESR1_uc003qon.3_Missense_Mutation_p.G40V|ESR1_uc003qoo.3_Missense_Mutation_p.G40V|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Missense_Mutation_p.G40V	p.G40V	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	3	489	+		Ovarian(120;0.0448)	40			Modulating; mediates interaction with MACROD1.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.119G>T	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951466	0.53186	.	.	ENSG00000091831	ENST00000404742;ENST00000440973;ENST00000338799;ENST00000456483;ENST00000446550;ENST00000443427;ENST00000206249;ENST00000406599	T;D;D;D;T;D;D;T	0.92858	0.64;-3.12;-3.12;-2.67;0.68;-3.12;-3.12;-0.9	5.06	4.19	0.49359	.	0.461581	0.26549	N	0.023744	D	0.92737	0.7691	L	0.56769	1.78	0.80722	D	1	D;B;P;P	0.69078	0.997;0.378;0.691;0.565	D;B;B;B	0.63597	0.916;0.221;0.35;0.19	D	0.93410	0.6768	10	0.87932	D	0	.	13.2715	0.60164	0.0775:0.0:0.9225:0.0	.	40;40;40;40	Q9H2M1;A8KAF4;G4XH65;P03372	.;.;.;ESR1_HUMAN	V	40	ENSP00000385373:G40V;ENSP00000405330:G40V;ENSP00000342630:G40V;ENSP00000415934:G40V;ENSP00000411105:G40V;ENSP00000387500:G40V;ENSP00000206249:G40V;ENSP00000384064:G40V	ENSP00000206249:G40V	G	+	2	0	ESR1	152170859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.538000	0.67193	1.126000	0.42016	0.563000	0.77884	GGC		PASS	0.662	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			18	70	18	70	---	---	---	---
T	6862	broad.mit.edu	37	6	166576077	166576077	+	Silent	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:166576077C>G	ENST00000296946.2	-	7	1230	c.762G>C	c.(760-762)ctG>ctC	p.L254L	T_ENST00000366871.3_Intron	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	254					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L254L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CAGGTGGACACAGGGTGCTGG	0.587									Chordoma, Familial Clustering of																													uc003quu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(760-762)CTG>CTC		transcription factor T							94.0	95.0	95.0					6																	166576077		2203	4300	6503	SO:0001819	synonymous_variant	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166576077C>G	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.762G>C	6.37:g.166576077C>G						T_uc003qut.1_Silent_p.L255L|T_uc003quv.1_Intron	p.L254L	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	7	1255	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	254					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.762G>C	CCDS5290.1																																																																																				PASS	0.587	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		61	52	61	52	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169641872	169641872	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr6:169641872C>T	ENST00000366787.3	-	6	1125	c.876G>A	c.(874-876)gaG>gaA	p.E292E	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	292					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E292E(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCTTGAGGTTCTCGCTGAGCT	0.647																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(874-876)GAG>GAA		thrombospondin 2 precursor							82.0	78.0	79.0					6																	169641872		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169641872C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.876G>A	6.37:g.169641872C>T							p.E292E	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	6	1124	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	292					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.876G>A	CCDS34574.1																																																																																				PASS	0.647	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		58	335	58	335	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4169653	4169653	+	Silent	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:4169653C>G	ENST00000404826.2	+	27	4192	c.4053C>G	c.(4051-4053)ctC>ctG	p.L1351L	SDK1_ENST00000389531.3_Silent_p.L1351L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1351	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L1351L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCTACGAGCTCCAGGTGCTGG	0.662																																						uc003smx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(4051-4053)CTC>CTG		sidekick 1 precursor							52.0	49.0	50.0					7																	4169653		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4169653C>G	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4053C>G	7.37:g.4169653C>G						SDK1_uc010kso.2_Silent_p.L627L|SDK1_uc003smy.2_5'UTR	p.L1351L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	27	4192	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1351			Fibronectin type-III 7.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4053C>G	CCDS34590.1																																																																																				PASS	0.662	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		26	169	26	169	---	---	---	---
SLC29A4	222962	broad.mit.edu	37	7	5338675	5338675	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:5338675C>T	ENST00000396872.3	+	8	1100	c.939C>T	c.(937-939)caC>caT	p.H313H	SLC29A4_ENST00000297195.4_Silent_p.H313H|SLC29A4_ENST00000406453.3_Silent_p.H299H			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	313					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.H313H(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GCCCAGCCCACGAGGTGACCG	0.692																																						uc003sod.2																			1	Substitution - coding silent(1)		lung(1)	liver(1)	1						c.(937-939)CAC>CAT		solute carrier family 29 (nucleoside							17.0	23.0	21.0					7																	5338675		2189	4295	6484	SO:0001819	synonymous_variant	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5338675C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.939C>T	7.37:g.5338675C>T						SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Silent_p.H313H|SLC29A4_uc003soe.2_Silent_p.H299H|SLC29A4_uc010ksw.2_RNA	p.H313H	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	8	1100	+		Ovarian(82;0.0175)	313			Cytoplasmic (Potential).		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	c.939C>T	CCDS5340.1																																																																																				PASS	0.692	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		5	120	5	120	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5353171	5353171	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:5353171G>T	ENST00000430969.1	-	27	7699	c.7351C>A	c.(7351-7353)Cct>Act	p.P2451T	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2451T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2451							chromatin binding (GO:0003682)	p.P2451T(2)|p.P283T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCCTCCGAGGGCCCTTGGCA	0.672																																						uc003soi.3																			3	Substitution - Missense(3)		lung(3)		0						c.(7351-7353)CCT>ACT		trinucleotide repeat containing 18							14.0	14.0	14.0					7																	5353171		1565	3578	5143	SO:0001583	missense	84629						DNA binding	g.chr7:5353171G>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7351C>A	7.37:g.5353171G>T	ENSP00000395538:p.Pro2451Thr						p.P2451T	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	7700	-		Ovarian(82;0.142)	2451					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.7351C>A	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.013|0.013	-1.612846|-1.612846	0.00835|0.00835	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000328270|ENST00000399537;ENST00000430969	.|T;T	.|0.11277	.|2.79;2.79	4.73|4.73	-2.68|-2.68	0.06041|0.06041	.|.	0.506251|0.506251	0.14892|0.14892	N|N	0.292343|0.292343	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.42310|0.42310	-0.9459|-0.9459	6|10	.|0.09590	.|T	.|0.72	.|.	1.9875|1.9875	0.03439|0.03439	0.1224:0.2261:0.2829:0.3686|0.1224:0.2261:0.2829:0.3686	.|.	.|2451	.|O15417	.|TNC18_HUMAN	H|T	264|2451	.|ENSP00000382452:P2451T;ENSP00000395538:P2451T	.|ENSP00000382452:P2451T	P|P	-|-	2|1	0|0	TNRC18|TNRC18	5319697|5319697	0.010000|0.010000	0.17322|0.17322	0.299000|0.299000	0.25016|0.25016	0.301000|0.301000	0.27625|0.27625	-0.327000|-0.327000	0.07955|0.07955	-0.147000|-0.147000	0.11254|0.11254	0.561000|0.561000	0.74099|0.74099	CCC|CCT		PASS	0.672	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				8	29	8	29	---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7635937	7635937	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:7635937C>T	ENST00000340080.4	+	11	2667	c.2246C>T	c.(2245-2247)tCa>tTa	p.S749L	MIOS_ENST00000405785.1_Missense_Mutation_p.S749L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	749						lysosomal membrane (GO:0005765)		p.S749L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACAGCTGTTCAGCTGTGCCT	0.403																																						uc003srf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2245-2247)TCA>TTA		missing oocyte, meiosis regulator, homolog							158.0	146.0	150.0					7																	7635937		1916	4132	6048	SO:0001583	missense	54468							g.chr7:7635937C>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2246C>T	7.37:g.7635937C>T	ENSP00000339881:p.Ser749Leu					MIOS_uc003srg.2_Missense_Mutation_p.S284L|MIOS_uc010ktq.2_Missense_Mutation_p.S144L	p.S749L	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			11	2554	+			749					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.2246C>T	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968474	0.53614	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.28255	1.62;1.62	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.23410	0.0566	N	0.17312	0.475	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.18871	0.023;0.023	T	0.04708	-1.0932	10	0.23302	T	0.38	-16.4023	19.9829	0.97336	0.0:1.0:0.0:0.0	.	749;749	B4DGE7;Q9NXC5	.;MIO_HUMAN	L	749	ENSP00000339881:S749L;ENSP00000384088:S749L	ENSP00000339881:S749L	S	+	2	0	MIOS	7602462	1.000000	0.71417	0.987000	0.45799	0.954000	0.61252	7.461000	0.80834	2.809000	0.96659	0.467000	0.42956	TCA		PASS	0.403	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		14	271	14	271	---	---	---	---
SNX13	23161	broad.mit.edu	37	7	17890515	17890515	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:17890515C>G	ENST00000409389.1	-	10	1082	c.910G>C	c.(910-912)Gaa>Caa	p.E304Q	SNX13_ENST00000428135.3_Missense_Mutation_p.E304Q			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	304					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.E304Q(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CTGACTGCTTCTAGCTCTCCA	0.328																																						uc003stw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(910-912)GAA>CAA		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							99.0	91.0	93.0					7																	17890515		1856	4089	5945	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17890515C>G	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.910G>C	7.37:g.17890515C>G	ENSP00000386705:p.Glu304Gln					SNX13_uc003stv.2_Missense_Mutation_p.E304Q|SNX13_uc010kuc.2_Missense_Mutation_p.E101Q	p.E304Q			Q9Y5W8	SNX13_HUMAN			10	1123	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		304					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.910G>C		.	.	.	.	.	.	.	.	.	.	C	25.3	4.627669	0.87560	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.18960	2.18;2.44	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	L	0.46157	1.445	0.80722	D	1	P;P;D	0.53151	0.894;0.656;0.958	B;P;P	0.51487	0.437;0.459;0.671	T	0.00756	-1.1579	10	0.17832	T	0.49	-16.6418	20.1364	0.98032	0.0:1.0:0.0:0.0	.	101;304;304	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	Q	304;304;352	ENSP00000386705:E304Q;ENSP00000398789:E304Q	ENSP00000242044:E352Q	E	-	1	0	SNX13	17857040	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.298000	0.78815	2.768000	0.95171	0.491000	0.48974	GAA		PASS	0.328	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		9	35	9	35	---	---	---	---
NT5C3A	51251	broad.mit.edu	37	7	33057128	33057128	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:33057128C>G	ENST00000242210.7	-	7	707	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	NT5C3A_ENST00000396152.2_Missense_Mutation_p.E172Q|NT5C3A_ENST00000381626.2_Missense_Mutation_p.E160Q|NT5C3A_ENST00000409787.1_Missense_Mutation_p.E172Q|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000610140.1_Missense_Mutation_p.E206Q|NT5C3A_ENST00000409467.1_Missense_Mutation_p.E160Q|NT5C3A_ENST00000405342.1_Missense_Mutation_p.E172Q	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	211					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.E211Q(1)|p.E172Q(1)									ATAACTTCCTCTAGTACATCG	0.378																																						uc003tdk.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(631-633)GAG>CAG		5'-nucleotidase, cytosolic III isoform 1							118.0	112.0	114.0					7																	33057128		2203	4300	6503	SO:0001583	missense	51251				nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr7:33057128C>G	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.631G>C	7.37:g.33057128C>G	ENSP00000242210:p.Glu211Gln					AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.E172Q|NT5C3_uc003tdj.2_Missense_Mutation_p.E172Q	p.E211Q	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		7	708	-			211					A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.631G>C	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736474	0.69189	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.29	5.29	0.74685	HAD-like domain (2);	0.053068	0.64402	D	0.000001	D	0.93025	0.7780	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93190	0.6582	10	0.52906	T	0.07	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	211;172	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	Q	160;172;211;172;160;172	ENSP00000371039:E160Q;ENSP00000379456:E172Q;ENSP00000242210:E211Q;ENSP00000385261:E172Q;ENSP00000387166:E160Q;ENSP00000387205:E172Q	ENSP00000242210:E211Q	E	-	1	0	NT5C3	33023653	1.000000	0.71417	0.952000	0.39060	0.180000	0.23129	7.818000	0.86416	2.473000	0.83533	0.655000	0.94253	GAG		PASS	0.378	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		28	146	28	146	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40037170	40037170	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:40037170C>T	ENST00000181839.4	+	3	2554	c.1949C>T	c.(1948-1950)cCg>cTg	p.P650L	CDK13_ENST00000340829.5_Missense_Mutation_p.P650L|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	650					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.P650L(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCTGATTTACCGCTGCCCCCT	0.403																																						uc003thh.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)	5						c.(1948-1950)CCG>CTG		cell division cycle 2-like 5 isoform 1							135.0	145.0	142.0					7																	40037170		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40037170C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1949C>T	7.37:g.40037170C>T	ENSP00000181839:p.Pro650Leu					CDK13_uc003thi.3_Missense_Mutation_p.P650L|CDK13_uc011kbf.1_Missense_Mutation_p.P36L	p.P650L	NM_003718	NP_003709	Q14004	CDK13_HUMAN			3	2231	+			650					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1949C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528532	0.85706	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.75589	-0.95;-0.82	4.94	4.94	0.65067	.	.	.	.	.	D	0.85500	0.5711	M	0.72118	2.19	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.791	D;D;B	0.87578	0.982;0.998;0.105	D	0.85526	0.1206	8	.	.	.	-8.2091	18.1168	0.89558	0.0:1.0:0.0:0.0	.	36;650;650	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	L	650	ENSP00000181839:P650L;ENSP00000340557:P650L	.	P	+	2	0	CDK13	40003695	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.418000	0.59828	2.440000	0.82611	0.591000	0.81541	CCG		PASS	0.403	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		39	265	39	265	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42065846	42065846	+	Silent	SNP	C	C	A	rs148822237		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:42065846C>A	ENST00000395925.3	-	8	1278	c.1194G>T	c.(1192-1194)acG>acT	p.T398T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	398					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T398T(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGTTCAGAACCGTAGGGATCC	0.617									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - coding silent(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(1192-1194)ACG>ACT		GLI-Kruppel family member GLI3							84.0	76.0	78.0					7																	42065846		2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42065846C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1194G>T	7.37:g.42065846C>A						GLI3_uc011kbg.1_Silent_p.T339T	p.T398T	NM_000168	NP_000159	P10071	GLI3_HUMAN			8	1285	-			398					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.1194G>T	CCDS5465.1																																																																																				PASS	0.617	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		7	57	7	57	---	---	---	---
DDC	1644	broad.mit.edu	37	7	50566927	50566927	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:50566927G>A	ENST00000444124.2	-	8	995	c.795C>T	c.(793-795)gaC>gaT	p.D265D	DDC_ENST00000426377.1_Silent_p.D187D|DDC_ENST00000357936.5_Silent_p.D265D|DDC_ENST00000380984.4_Silent_p.D265D|DDC_ENST00000431062.1_Silent_p.D172D	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	265					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.D265D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GCAGCCATATGTCTTCCTTGT	0.562																																						uc003tpf.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(793-795)GAC>GAT		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						97.0	72.0	80.0					7																	50566927		2203	4300	6503	SO:0001819	synonymous_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50566927G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.795C>T	7.37:g.50566927G>A						DDC_uc010kza.2_Silent_p.D180D|DDC_uc003tpg.3_Silent_p.D265D	p.D265D	NM_000790	NP_000781	P20711	DDC_HUMAN			8	881	-	Glioma(55;0.08)|all_neural(89;0.245)		265					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.795C>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204424	0.01568	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.74	1.2	0.21068	.	.	.	.	.	T	0.29423	0.0733	.	.	.	0.31467	N	0.66882	.	.	.	.	.	.	T	0.32903	-0.9889	4	.	.	.	-15.8715	2.8907	0.05676	0.4844:0.0:0.3103:0.2052	.	.	.	.	I	146	.	.	T	-	2	0	DDC	50534421	0.000000	0.05858	0.024000	0.17045	0.107000	0.19398	-0.306000	0.08178	0.305000	0.22832	0.655000	0.94253	ACA		PASS	0.562	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			18	44	18	44	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57188631	57188631	+	Missense_Mutation	SNP	T	T	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:57188631T>A	ENST00000331162.4	-	5	761	c.491A>T	c.(490-492)aAa>aTa	p.K164I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K164I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACCAAAGACTTTGACATATTT	0.308																																						uc010kzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(490-492)AAA>ATA		zinc finger protein 479							31.0	30.0	31.0					7																	57188631		1806	4057	5863	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188631T>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.491A>T	7.37:g.57188631T>A	ENSP00000333776:p.Lys164Ile						p.K164I	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	762	-			164						Missense_Mutation	SNP	ENST00000331162.4	37	c.491A>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	5.633	0.301515	0.10678	.	.	ENSG00000185177	ENST00000331162	T	0.35605	1.3	0.946	-0.306	0.12780	.	.	.	.	.	T	0.40570	0.1122	M	0.91510	3.215	0.09310	N	1	B	0.25719	0.132	B	0.21546	0.035	T	0.50363	-0.8837	9	0.66056	D	0.02	.	2.6572	0.05016	0.0:0.4089:0.0:0.5911	.	164	Q96JC4	ZN479_HUMAN	I	164	ENSP00000333776:K164I	ENSP00000333776:K164I	K	-	2	0	ZNF479	57192573	0.007000	0.16637	0.004000	0.12327	0.005000	0.04900	-0.131000	0.10482	0.339000	0.23719	0.329000	0.21502	AAA		PASS	0.308	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		9	56	9	56	---	---	---	---
PMS2P3	5387	broad.mit.edu	37	7	75145477	75145477	+	RNA	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:75145477C>A	ENST00000418756.1	-	0	687					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)	p.E29*(1)		lung(1)	1						GCTATCTTCTCATCAGGGTCC	0.493																																					NSCLC(70;602 1339 5301 18528 38453)	uc003udp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(85-87)GAG>TAG	Direct_reversal_of_damage|MMR	SubName: Full=Postmeiotic segregation increased 2-like 3; SubName: Full=Postmeiotic segregation increased 2-like 3, isoform CRA_b;							47.0	40.0	42.0					7																	75145477		2203	4296	6499			5387							g.chr7:75145477C>A	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75145477C>A						PMS2L3_uc003udn.2_RNA|PMS2L3_uc003udq.2_Nonsense_Mutation_p.E29*|PMS2L3_uc003udr.1_RNA	p.E29*	NM_005395	NP_005386					3	629	-								A6NG70|Q3MJ29	Nonsense_Mutation	SNP	ENST00000418756.1	37	c.85G>T																																																																																					PASS	0.493	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		40	110	40	110	---	---	---	---
SSC4D	136853	broad.mit.edu	37	7	76022746	76022746	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:76022746C>T	ENST00000275560.3	-	9	1656	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1												p.E437K(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CCCGCGTCCTCGTGGTGGCCG	0.751																																						uc003ufb.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1309-1311)GAG>AAG		scavenger receptor cysteine rich domain							8.0	9.0	8.0					7																	76022746		2131	4207	6338	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76022746C>T																												ENST00000275560.3:c.1309G>A	7.37:g.76022746C>T	ENSP00000275560:p.Glu437Lys					SRCRB4D_uc003ufa.2_5'UTR	p.E437K	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			9	1657	-			437			SRCR 3.			Missense_Mutation	SNP	ENST00000275560.3	37	c.1309G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359032	0.95854	.	.	ENSG00000146700	ENST00000275560	T	0.50277	0.75	5.28	5.28	0.74379	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.89414	3.03	0.58432	D	0.999994	D	0.76494	0.999	D	0.66084	0.941	T	0.78650	-0.2121	10	0.62326	D	0.03	.	17.8912	0.88872	0.0:1.0:0.0:0.0	.	437	Q8WTU2	SRB4D_HUMAN	K	437	ENSP00000275560:E437K	ENSP00000275560:E437K	E	-	1	0	SRCRB4D	75860682	1.000000	0.71417	0.998000	0.56505	0.212000	0.24457	7.723000	0.84788	2.489000	0.83994	0.655000	0.94253	GAG		PASS	0.751	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			6	29	6	29	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87183183	87183183	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:87183183G>C	ENST00000265724.3	-	10	1310	c.893C>G	c.(892-894)tCt>tGt	p.S298C	ABCB1_ENST00000543898.1_Missense_Mutation_p.S234C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	298	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S298C(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGCACCTATAGAAATATTGGC	0.373																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(892-894)TCT>TGT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						185.0	176.0	179.0					7																	87183183		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87183183G>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.893C>G	7.37:g.87183183G>C	ENSP00000265724:p.Ser298Cys					ABCB1_uc011khc.1_Missense_Mutation_p.S234C	p.S298C	NM_000927	NP_000918	P08183	MDR1_HUMAN			10	1311	-	Esophageal squamous(14;0.00164)		298			Helical; (Potential).|ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.893C>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644208	0.87859	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90844	-2.74;-2.74	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.052281	0.85682	D	0.000000	D	0.95121	0.8419	M	0.71920	2.185	0.58432	D	0.999999	P;D	0.89917	0.944;1.0	B;D	0.97110	0.113;1.0	D	0.94354	0.7582	10	0.49607	T	0.09	-19.9763	19.8764	0.96873	0.0:0.0:1.0:0.0	.	234;298	B5AK60;P08183	.;MDR1_HUMAN	C	79;298;234	ENSP00000265724:S298C;ENSP00000444095:S234C	ENSP00000265724:S298C	S	-	2	0	ABCB1	87021119	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	4.816000	0.62642	2.768000	0.95171	0.655000	0.94253	TCT		PASS	0.373	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		30	253	30	253	---	---	---	---
SLC25A40	55972	broad.mit.edu	37	7	87483531	87483531	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:87483531G>A	ENST00000341119.5	-	5	598	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	84					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.F84F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ATGTTCCCTGGAAATTTCCTG	0.323																																						uc003uje.2																			1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(250-252)TTC>TTT		mitochondrial carrier family protein							162.0	150.0	154.0					7																	87483531		2203	4300	6503	SO:0001819	synonymous_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87483531G>A	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.252C>T	7.37:g.87483531G>A							p.F84F	NM_018843	NP_061331	Q8TBP6	S2540_HUMAN			5	603	-	Esophageal squamous(14;0.00202)		84			Solcar 1.		A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	c.252C>T	CCDS5610.1																																																																																				PASS	0.323	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		8	227	8	227	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91715626	91715626	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:91715626G>C	ENST00000359028.2	+	37	9346	c.9121G>C	c.(9121-9123)Gag>Cag	p.E3041Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E3037Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E2987Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3041					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E3037Q(1)|p.E3041Q(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTCTTAGAAGAGCGTAGTGT	0.418			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(9109-9111)GAG>CAG		A-kinase anchor protein 9 isoform 2							199.0	192.0	195.0					7																	91715626		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91715626G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9121G>C	7.37:g.91715626G>C	ENSP00000351922:p.Glu3041Gln					AKAP9_uc003ulf.2_Missense_Mutation_p.E3029Q|AKAP9_uc003uli.2_Missense_Mutation_p.E2660Q|AKAP9_uc003ulj.2_Missense_Mutation_p.E807Q|AKAP9_uc003ulk.2_Missense_Mutation_p.E312Q	p.E3037Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		37	9334	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3041					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.9109G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.23|16.23	3.065317|3.065317	0.55432|0.55432	.|.	.|.	ENSG00000127914|ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534|ENST00000435423	T;T;T;T|.	0.34072|.	1.58;1.54;1.79;1.38|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.39475|.	N|.	0.001354|.	T|T	0.79540|0.79540	0.4463|0.4463	M|M	0.82630|0.82630	2.6|2.6	0.46849|0.46849	D|D	0.999227|0.999227	D;D;D;D;D|.	0.71674|.	0.998;0.998;0.979;0.988;0.988|.	D;D;P;D;D|.	0.71870|.	0.909;0.975;0.86;0.909;0.909|.	T|T	0.80946|0.80946	-0.1155|-0.1155	10|5	0.87932|.	D|.	0|.	.|.	18.6171|18.6171	0.91306|0.91306	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3041;3041;3041;3037;3029|.	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3|.	.;.;AKAP9_HUMAN;.;.|.	Q|N	3037;3041;2987;3041;883|181	ENSP00000348573:E3037Q;ENSP00000351922:E3041Q;ENSP00000350813:E2987Q;ENSP00000378042:E883Q|.	ENSP00000348573:E3037Q|.	E|K	+|+	1|3	0|2	AKAP9|AKAP9	91553562|91553562	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.761000|0.761000	0.43186|0.43186	6.783000|6.783000	0.75078|0.75078	2.693000|2.693000	0.91896|0.91896	0.585000|0.585000	0.79938|0.79938	GAG|AAG		PASS	0.418	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		64	527	64	527	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	91936822	91936822	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:91936822G>C	ENST00000265742.3	+	3	714	c.338G>C	c.(337-339)aGa>aCa	p.R113T		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	113							zinc ion binding (GO:0008270)	p.R113T(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATTTCAGAAGAGCAGATTGT	0.413																																						uc003ulw.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(337-339)AGA>ACA		ankyrin repeat and IBR domain containing 1							115.0	112.0	113.0					7																	91936822		1920	4135	6055	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:91936822G>C	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.338G>C	7.37:g.91936822G>C	ENSP00000265742:p.Arg113Thr						p.R113T	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		3	714	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		113					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.338G>C	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868964	0.91587	.	.	ENSG00000001629	ENST00000265742;ENST00000442183	T;T	0.66280	-0.15;-0.2	5.61	5.61	0.85477	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	M	0.72576	2.205	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.81210	-0.1036	10	0.87932	D	0	.	19.6356	0.95731	0.0:0.0:1.0:0.0	.	113	Q9P2G1	AKIB1_HUMAN	T	113	ENSP00000265742:R113T;ENSP00000407002:R113T	ENSP00000265742:R113T	R	+	2	0	ANKIB1	91774758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.638000	0.89438	0.585000	0.79938	AGA		PASS	0.413	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			4	232	4	232	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93113265	93113265	+	Intron	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:93113265G>T	ENST00000394441.1	-	2	367				MIR653_ENST00000385279.1_RNA|CALCR_ENST00000359558.2_Intron|CALCR_ENST00000421592.1_Intron|CALCR_ENST00000360249.4_Intron|CALCR_ENST00000426151.1_Intron|MIR489_ENST00000384923.1_RNA	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTTAGCTGCCGTATATGTGAT	0.403																																						hsa-mir-489|MI0003124																			0					0															106.0	99.0	101.0					7																	93113265		1568	3582	5150	SO:0001627	intron_variant	574442							g.chr7:93113265G>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.51+2977C>A	7.37:g.93113265G>T						CALCR_uc003ums.1_Intron|CALCR_uc003umt.1_Intron|CALCR_uc003umu.1_Intron|CALCR_uc003umv.1_Intron|CALCR_uc003umw.2_Intron|MIR653_hsa-mir-653|MI0003674_5'Flank										-								A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	RNA	SNP	ENST00000394441.1	37	c.67G>T	CCDS5631.1																																																																																				PASS	0.403	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		20	72	20	72	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94045750	94045750	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:94045750G>T	ENST00000297268.6	+	31	2269	c.1798G>T	c.(1798-1800)Gcc>Tcc	p.A600S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	600					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.A600S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAGTGGTGCTGCCGGTCCTAC	0.478										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1798-1800)GCC>TCC		alpha 2 type I collagen precursor	Collagenase(DB00048)						41.0	35.0	37.0					7																	94045750		2203	4298	6501	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94045750G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1798G>T	7.37:g.94045750G>T	ENSP00000297268:p.Ala600Ser	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_5'Flank	p.A600S	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		31	2269	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		600					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1798G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079195	0.55753	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93547	-3.24	5.34	5.34	0.76211	.	0.492187	0.22624	N	0.057669	D	0.89072	0.6611	N	0.17838	0.53	0.38465	D	0.947308	B	0.10296	0.003	B	0.08055	0.003	D	0.84158	0.0427	10	0.49607	T	0.09	.	19.9349	0.97133	0.0:0.0:1.0:0.0	.	600	P08123	CO1A2_HUMAN	S	600;601	ENSP00000297268:A600S	ENSP00000297268:A600S	A	+	1	0	COL1A2	93883686	0.076000	0.21285	1.000000	0.80357	0.910000	0.53928	0.980000	0.29513	2.880000	0.98712	0.650000	0.86243	GCC		PASS	0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		6	16	6	16	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677363	100677363	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:100677363C>T	ENST00000306151.4	+	3	2730	c.2666C>T	c.(2665-2667)cCt>cTt	p.P889L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	889	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P889L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACAACTCCTGTTGACACC	0.498																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2665-2667)CCT>CTT		mucin 17 precursor							294.0	291.0	292.0					7																	100677363		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677363C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2666C>T	7.37:g.100677363C>T	ENSP00000302716:p.Pro889Leu					MUC17_uc010lho.1_RNA	p.P889L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2719	+	Lung NSC(181;0.136)|all_lung(186;0.182)		889			Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2666C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.727	0.135264	0.09032	.	.	ENSG00000169876	ENST00000306151	T	0.03242	4.0	0.791	0.791	0.18619	.	.	.	.	.	T	0.04003	0.0112	L	0.29908	0.895	0.09310	N	1	D	0.63046	0.992	P	0.48627	0.584	T	0.48305	-0.9047	9	0.21540	T	0.41	.	7.4392	0.27172	0.0:1.0:0.0:0.0	.	889	Q685J3	MUC17_HUMAN	L	889	ENSP00000302716:P889L	ENSP00000302716:P889L	P	+	2	0	MUC17	100464083	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.333000	0.07894	0.727000	0.32360	0.196000	0.17591	CCT		PASS	0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		80	818	80	818	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678116	100678116	+	Nonsense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:100678116C>G	ENST00000306151.4	+	3	3483	c.3419C>G	c.(3418-3420)tCa>tGa	p.S1140*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1140	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S1140*(1)|p.S1140L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTCCTACA	0.547																																						uc003uxp.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3418-3420)TCA>TGA		mucin 17 precursor							382.0	337.0	352.0					7																	100678116		2203	4298	6501	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678116C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3419C>G	7.37:g.100678116C>G	ENSP00000302716:p.Ser1140*					MUC17_uc010lho.1_RNA	p.S1140*	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3472	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1140			Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.3419C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	37	6.333975	0.97485	.	.	ENSG00000169876	ENST00000306151	.	.	.	0.899	0.899	0.19271	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	7.6806	0.28511	0.0:1.0:0.0:0.0	.	.	.	.	X	1140	.	ENSP00000302716:S1140X	S	+	2	0	MUC17	100464836	0.000000	0.05858	0.002000	0.10522	0.060000	0.15804	0.566000	0.23593	0.797000	0.33971	0.196000	0.17591	TCA		PASS	0.547	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		18	854	18	854	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678753	100678753	+	Silent	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:100678753T>C	ENST00000306151.4	+	3	4120	c.4056T>C	c.(4054-4056)tcT>tcC	p.S1352S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1352	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S1352S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGCCAGTTCTGCAATCAGCA	0.468																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4054-4056)TCT>TCC		mucin 17 precursor							231.0	229.0	229.0					7																	100678753		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678753T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4056T>C	7.37:g.100678753T>C						MUC17_uc010lho.1_RNA	p.S1352S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4109	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1352			Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.4056T>C	CCDS34711.1																																																																																				PASS	0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		267	478	267	478	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108155098	108155098	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:108155098G>C	ENST00000422087.1	-	4	1244	c.838C>G	c.(838-840)Caa>Gaa	p.Q280E	PNPLA8_ENST00000453144.1_Missense_Mutation_p.Q180E|PNPLA8_ENST00000257694.8_Missense_Mutation_p.Q280E|PNPLA8_ENST00000426128.2_Missense_Mutation_p.Q280E|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.Q280E|PNPLA8_ENST00000388728.5_Missense_Mutation_p.Q280E	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	280					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.Q280E(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GTTGAAACTTGAAGAACATCA	0.438																																						uc003vff.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(838-840)CAA>GAA		patatin-like phospholipase domain containing 8							113.0	109.0	110.0					7																	108155098		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155098G>C	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.838C>G	7.37:g.108155098G>C	ENSP00000410804:p.Gln280Glu					PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.Q280E|PNPLA8_uc003vfi.1_Missense_Mutation_p.Q180E|PNPLA8_uc003vfj.1_Missense_Mutation_p.Q280E|PNPLA8_uc003vfk.1_Missense_Mutation_p.Q180E	p.Q280E	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN			4	1245	-			280					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.838C>G	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	4.349	0.064165	0.08388	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.97665	-3.27;-4.48;-3.27;-4.48;-4.48;-4.48;-4.47	5.48	4.54	0.55810	.	0.301359	0.37219	N	0.002190	D	0.91734	0.7386	N	0.08118	0	0.18873	N	0.999985	B	0.06786	0.001	B	0.04013	0.001	T	0.82926	-0.0215	10	0.41790	T	0.15	.	15.3895	0.74731	0.0:0.0:0.8601:0.1399	.	280	Q9NP80	PLPL8_HUMAN	E	280;280;280;280;180;280;180	ENSP00000394988:Q280E;ENSP00000257694:Q280E;ENSP00000373380:Q280E;ENSP00000410804:Q280E;ENSP00000387789:Q180E;ENSP00000406779:Q280E;ENSP00000402274:Q180E	ENSP00000257694:Q280E	Q	-	1	0	PNPLA8	107942334	0.999000	0.42202	0.024000	0.17045	0.049000	0.14656	3.704000	0.54815	2.732000	0.93576	0.591000	0.81541	CAA		PASS	0.438	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		20	231	20	231	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119914784	119914784	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:119914784A>G	ENST00000331113.4	+	1	1063	c.98A>G	c.(97-99)cAg>cGg	p.Q33R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	33					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.Q33R(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCCCCGAGGCAGGAGAGGAAA	0.627																																						uc003vjj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(97-99)CAG>CGG		potassium voltage-gated channel, Shal-related							108.0	124.0	119.0					7																	119914784		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914784A>G	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.98A>G	7.37:g.119914784A>G	ENSP00000333496:p.Gln33Arg						p.Q33R	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1063	+	all_neural(327;0.117)		33			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.98A>G	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	A	9.842	1.191229	0.21954	.	.	ENSG00000184408	ENST00000331113	D	0.96587	-4.06	5.51	5.51	0.81932	.	0.149924	0.45126	D	0.000383	D	0.89434	0.6714	N	0.11427	0.14	0.39425	D	0.96698	B	0.02656	0.0	B	0.01281	0.0	D	0.85418	0.1141	9	.	.	.	.	10.0451	0.42182	0.9251:0.0:0.0749:0.0	.	33	Q9NZV8	KCND2_HUMAN	R	33	ENSP00000333496:Q33R	.	Q	+	2	0	KCND2	119702020	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.883000	0.39658	2.105000	0.64084	0.533000	0.62120	CAG		PASS	0.627	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		261	398	261	398	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140534436	140534436	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:140534436G>C	ENST00000288602.6	-	3	537	c.477C>G	c.(475-477)gtC>gtG	p.V159V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	159	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V159V(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TGGGCAGGAAGACTCTAACGA	0.403		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	1	Substitution - coding silent(1)		lung(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(475-477)GTC>GTG		B-Raf	Sorafenib(DB00398)						169.0	153.0	158.0					7																	140534436		2203	4300	6503	SO:0001819	synonymous_variant	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140534436G>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.477C>G	7.37:g.140534436G>C							p.V159V	NM_004333	NP_004324	P15056	BRAF_HUMAN			3	538	-	Melanoma(164;0.00956)		159			RBD.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	c.477C>G	CCDS5863.1																																																																																				PASS	0.403	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		58	172	58	172	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140534629	140534629	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:140534629C>G	ENST00000288602.6	-	3	344	c.284G>C	c.(283-285)aGa>aCa	p.R95T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	95					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R95T(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CTGTTGTTCTCTTTGTTGGAG	0.393		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	1	Substitution - Missense(1)		lung(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(283-285)AGA>ACA		B-Raf	Sorafenib(DB00398)						143.0	133.0	136.0					7																	140534629		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140534629C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.284G>C	7.37:g.140534629C>G	ENSP00000288602:p.Arg95Thr						p.R95T	NM_004333	NP_004324	P15056	BRAF_HUMAN			3	345	-	Melanoma(164;0.00956)		95					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.284G>C	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713880	0.89112	.	.	ENSG00000157764	ENST00000288602	T	0.79033	-1.23	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	L	0.43923	1.385	0.80722	D	1	P	0.52842	0.956	B	0.40940	0.344	T	0.76708	-0.2860	10	0.52906	T	0.07	.	19.9052	0.97004	0.0:1.0:0.0:0.0	.	95	P15056	BRAF_HUMAN	T	95	ENSP00000288602:R95T	ENSP00000288602:R95T	R	-	2	0	BRAF	140181098	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.552000	0.82192	2.776000	0.95493	0.655000	0.94253	AGA		PASS	0.393	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	180	33	180	---	---	---	---
PRSS1	5644	broad.mit.edu	37	7	142459677	142459677	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:142459677G>C	ENST00000311737.7	+	3	259	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	PRSS1_ENST00000486171.1_Missense_Mutation_p.E99Q	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	85	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.E85Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GGAGGGGAATGAGCAGTTCAT	0.547																																						uc003wak.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(253-255)GAG>CAG		protease, serine, 1 preproprotein							233.0	216.0	222.0					7																	142459677		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459677G>C	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.253G>C	7.37:g.142459677G>C	ENSP00000308720:p.Glu85Gln					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.E25Q	p.E85Q	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	270	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	85			Peptidase S1.	Calcium.	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.253G>C	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.648042	0.47258	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000492062	D;D;D	0.89196	-2.48;-2.48;-2.48	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	L	0.43923	1.385	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	P;P	0.60345	0.873;0.85	D	0.90758	0.4662	10	0.54805	T	0.06	.	14.0086	0.64481	0.0:0.0:1.0:0.0	.	99;85	E7EQ64;P07477	.;TRY1_HUMAN	Q	99;85;35	ENSP00000417854:E99Q;ENSP00000308720:E85Q;ENSP00000419912:E35Q	ENSP00000308720:E85Q	E	+	1	0	PRSS1	142139251	1.000000	0.71417	0.417000	0.26559	0.174000	0.22865	7.729000	0.84864	1.789000	0.52484	0.398000	0.26397	GAG		PASS	0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			31	313	31	313	---	---	---	---
TRPV6	55503	broad.mit.edu	37	7	142583234	142583234	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:142583234C>T	ENST00000359396.3	-	1	273	c.28G>A	c.(28-30)Ggg>Agg	p.G10R	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	10					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.G10R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGAATTAGCCCTTTCTCCTTG	0.612																																						uc003wbx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(28-30)GGG>AGG		transient receptor potential cation channel,							98.0	102.0	101.0					7																	142583234		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142583234C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.28G>A	7.37:g.142583234C>T	ENSP00000352358:p.Gly10Arg						p.G10R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			1	244	-	Melanoma(164;0.059)		10			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.28G>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305801	0.40795	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.80566	-1.39	3.54	2.66	0.31614	.	0.145674	0.46442	D	0.000295	T	0.73908	0.3647	M	0.64404	1.975	0.30377	N	0.782281	P	0.34934	0.476	B	0.33890	0.172	T	0.72988	-0.4124	10	0.62326	D	0.03	-24.9064	6.834	0.23925	0.0:0.8676:0.0:0.1324	.	10	Q9H1D0	TRPV6_HUMAN	R	10	ENSP00000352358:G10R	ENSP00000310825:G10R	G	-	1	0	TRPV6	142293356	0.547000	0.26465	0.881000	0.34555	0.962000	0.63368	0.868000	0.27982	0.846000	0.35142	0.386000	0.25728	GGG		PASS	0.612	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		100	169	100	169	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	148080915	148080915	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:148080915C>T	ENST00000361727.3	+	22	4166	c.3650C>T	c.(3649-3651)tCg>tTg	p.S1217L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S276L|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1217					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.S1217L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCGGGGCCTCGCCGCTGACC	0.627										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3649-3651)TCG>TTG		cell recognition molecule Caspr2 precursor							29.0	31.0	30.0					7																	148080915		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:148080915C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3650C>T	7.37:g.148080915C>T	ENSP00000354778:p.Ser1217Leu	HNSCC(39;0.1)				CNTNAP2_uc003wev.1_5'UTR	p.S1217L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		22	4166	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1217			Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3650C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387572	0.82902	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;T	0.88818	-2.43;2.8	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	D	0.83092	0.5179	L	0.28608	0.87	0.54753	D	0.999986	P	0.51240	0.943	B	0.39027	0.288	T	0.81660	-0.0832	10	0.24483	T	0.36	.	19.2374	0.93866	0.0:1.0:0.0:0.0	.	1217	Q9UHC6	CNTP2_HUMAN	L	1217;276	ENSP00000354778:S1217L;ENSP00000440732:S276L	ENSP00000354778:S1217L	S	+	2	0	CNTNAP2	147711848	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.696000	0.61774	2.885000	0.99019	0.655000	0.94253	TCG		PASS	0.627	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			27	74	27	74	---	---	---	---
ZNF862	643641	broad.mit.edu	37	7	149545106	149545106	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:149545106C>T	ENST00000223210.4	+	4	769	c.524C>T	c.(523-525)tCa>tTa	p.S175L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S175L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GACAAACGGTCAAGACTAATA	0.512																																						uc010lpn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(523-525)TCA>TTA		zinc finger protein 862							51.0	51.0	51.0					7																	149545106		2058	4211	6269	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149545106C>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.524C>T	7.37:g.149545106C>T	ENSP00000223210:p.Ser175Leu					ZNF862_uc003wgm.2_RNA	p.S175L	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			4	716	+			175			TTF-type 1.		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.524C>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715890	0.48622	.	.	ENSG00000106479	ENST00000223210;ENST00000460379	T	0.01203	5.18	5.39	4.51	0.55191	Zinc finger, TTF-type (1);	0.463445	0.18271	N	0.146337	T	0.02083	0.0065	M	0.68317	2.08	0.25881	N	0.983591	B	0.18610	0.029	B	0.15484	0.013	T	0.27191	-1.0081	10	0.87932	D	0	-18.7886	10.112	0.42568	0.0:0.9085:0.0:0.0915	.	175	O60290	ZN862_HUMAN	L	175;91	ENSP00000223210:S175L	ENSP00000223210:S175L	S	+	2	0	ZNF862	149176039	0.967000	0.33354	0.531000	0.27976	0.163000	0.22366	3.012000	0.49575	1.289000	0.44618	-0.140000	0.14226	TCA		PASS	0.512	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		12	30	12	30	---	---	---	---
WDR86	349136	broad.mit.edu	37	7	151093180	151093180	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:151093180G>T	ENST00000334493.6	-	3	838	c.408C>A	c.(406-408)caC>caA	p.H136Q	WDR86_ENST00000469830.2_Missense_Mutation_p.H136Q|WDR86_ENST00000463000.1_5'Flank|WDR86_ENST00000477459.1_Missense_Mutation_p.H8Q	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	136								p.H136Q(2)|p.H8Q(1)		breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCAGTTGCGGTGGCCCCGGA	0.677																																						uc003wkb.2																			3	Substitution - Missense(3)		lung(3)		0						c.(406-408)CAC>CAA		WD repeat domain 86							21.0	25.0	24.0					7																	151093180		2193	4289	6482	SO:0001583	missense	349136							g.chr7:151093180G>T	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.408C>A	7.37:g.151093180G>T	ENSP00000335522:p.His136Gln					WDR86_uc003wka.2_Missense_Mutation_p.H94Q|WDR86_uc011kvk.1_Missense_Mutation_p.H136Q|WDR86_uc003wkc.2_Missense_Mutation_p.H8Q	p.H136Q	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	857	-			136			WD 4.		B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.408C>A	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474523	0.43942	.	.	ENSG00000187260	ENST00000334493;ENST00000477459;ENST00000469830	T;T;T	0.81415	-1.49;-1.49;-1.49	5.0	4.11	0.48088	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.56097	D	0.000021	D	0.89403	0.6705	M	0.91717	3.235	0.33483	D	0.58773	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.998;1.0	D	0.91197	0.4988	9	.	.	.	-46.9073	5.3279	0.15917	0.2705:0.0:0.7295:0.0	.	136;8;136;94	B4DJF1;C9JAJ5;Q86TI4;D3DX12	.;.;WDR86_HUMAN;.	Q	136;8;136	ENSP00000335522:H136Q;ENSP00000417512:H8Q;ENSP00000419162:H136Q	.	H	-	3	2	WDR86	150724113	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	1.227000	0.32576	2.324000	0.78689	0.467000	0.42956	CAC		PASS	0.677	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		51	44	51	44	---	---	---	---
HTR5A	3361	broad.mit.edu	37	7	154862691	154862691	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:154862691G>C	ENST00000287907.2	+	1	658	c.82G>C	c.(82-84)Gac>Cac	p.D28H	HTR5A-AS1_ENST00000493904.1_Intron|HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	28					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.D28H(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CGGCAAAGACGACCTGCGCCC	0.607																																						uc003wlu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(82-84)GAC>CAC		5-hydroxytryptamine receptor 5A							100.0	98.0	99.0					7																	154862691		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862691G>C		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.82G>C	7.37:g.154862691G>C	ENSP00000287907:p.Asp28His					uc011kvt.1_Intron|uc003wlt.2_Intron	p.D28H	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	146	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	28			Extracellular (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.82G>C	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	6.814	0.519373	0.13005	.	.	ENSG00000157219	ENST00000287907	T	0.37584	1.19	4.56	2.59	0.31030	.	0.788304	0.11185	N	0.590569	T	0.20901	0.0503	N	0.08118	0	0.09310	N	1	P	0.43169	0.8	B	0.42422	0.387	T	0.06409	-1.0828	10	0.41790	T	0.15	.	7.9675	0.30109	0.2193:0.0:0.7807:0.0	.	28	P47898	5HT5A_HUMAN	H	28	ENSP00000287907:D28H	ENSP00000287907:D28H	D	+	1	0	HTR5A	154493624	0.536000	0.26378	0.002000	0.10522	0.064000	0.16182	2.373000	0.44266	1.143000	0.42306	0.467000	0.42956	GAC		PASS	0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		113	132	113	132	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3165999	3165999	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:3165999G>A	ENST00000520002.1	-	25	4216	c.3661C>T	c.(3661-3663)Ccg>Tcg	p.P1221S	CSMD1_ENST00000602557.1_Missense_Mutation_p.P1221S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1220S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1221S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1221S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1220S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1220S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1221	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.P949S(1)|p.P1220S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGATGCCCGGATCCTCACAT	0.483																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(3661-3663)CCG>TCG		CUB and Sushi multiple domains 1 precursor							77.0	70.0	73.0					8																	3165999		1934	4141	6075	SO:0001583	missense	64478					integral to membrane		g.chr8:3165999G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3661C>T	8.37:g.3165999G>A	ENSP00000430733:p.Pro1221Ser					CSMD1_uc011kwj.1_Missense_Mutation_p.P613S|CSMD1_uc003wqe.2_Missense_Mutation_p.P377S	p.P1221S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	24	4051	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1221			Extracellular (Potential).|Sushi 7.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3661C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.53|18.53	3.644433|3.644433	0.67244|0.67244	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	D;D;D;D;D|.	0.84516|.	-1.86;-1.86;-1.86;-1.86;-1.86|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Complement control module (2);Sushi/SCR/CCP (3);|.	0.073603|.	0.56097|.	D|.	0.000033|.	D|D	0.91168|0.91168	0.7218|0.7218	H|H	0.98965|0.98965	4.385|4.385	0.80722|0.80722	D|D	1|1	P;D;D|.	0.55605|.	0.711;0.972;0.969|.	P;D;P|.	0.65233|.	0.531;0.933;0.868|.	D|D	0.94764|0.94764	0.7939|0.7939	10|5	0.87932|.	D|.	0|.	.|.	18.8807|18.8807	0.92354|0.92354	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1221;1221;1221|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|F	1221;1221;1083;1220;1220;1220|700	ENSP00000383047:P1221S;ENSP00000430733:P1221S;ENSP00000441462:P1220S;ENSP00000446243:P1220S;ENSP00000441675:P1220S|.	ENSP00000320445:P1083S|.	P|S	-|-	1|2	0|0	CSMD1|CSMD1	3153406|3153406	1.000000|1.000000	0.71417|0.71417	0.212000|0.212000	0.23672|0.23672	0.085000|0.085000	0.17905|0.17905	9.492000|9.492000	0.97957|0.97957	2.517000|2.517000	0.84864|0.84864	0.561000|0.561000	0.74099|0.74099	CCG|TCC		PASS	0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	25	10	25	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43171102	43171102	+	RNA	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:43171102G>A	ENST00000522175.2	+	0	837							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.E325K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TAGTCAGCATGAGGCATGtaa	0.318																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(973-975)GAG>AAG		POTE ankyrin domain family, member A isoform 2							39.0	39.0	39.0					8																	43171102		2036	4235	6271			340441							g.chr8:43171102G>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43171102G>A						POTEA_uc003xqa.1_Missense_Mutation_p.E279K	p.E325K	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			7	1016	+			325					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.973G>A																																																																																					PASS	0.318	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		4	28	4	28	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61754598	61754598	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:61754598C>T	ENST00000423902.2	+	21	5316	c.4837C>T	c.(4837-4839)Ctg>Ttg	p.L1613L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1613					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L1613L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGAAGAATCTGCTTGTCTA	0.418																																						uc003xue.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(4837-4839)CTG>TTG		chromodomain helicase DNA binding protein 7							61.0	62.0	62.0					8																	61754598		1911	4129	6040	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61754598C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4837C>T	8.37:g.61754598C>T							p.L1613L	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		21	5314	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1613					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.4837C>T	CCDS47865.1																																																																																				PASS	0.418	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	27	4	27	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67578320	67578320	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:67578320T>C	ENST00000310421.4	-	1	1132	c.874A>G	c.(874-876)Ata>Gta	p.I292V	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	292	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.I292V(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGACCAAATATGTGGATATTC	0.468																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(874-876)ATA>GTA		valosin containing protein (p97)/p47 complex							88.0	86.0	87.0					8																	67578320		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578320T>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.874A>G	8.37:g.67578320T>C	ENSP00000309031:p.Ile292Val					SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.I292V	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1133	-		Lung NSC(129;0.142)|all_lung(136;0.227)	292			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.874A>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.442901	0.25987	.	.	ENSG00000175073	ENST00000310421	T	0.35973	1.28	6.17	6.17	0.99709	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	N	0.05050	-0.12	0.80722	D	1	D	0.58620	0.983	D	0.73708	0.981	T	0.38757	-0.9646	10	0.16420	T	0.52	-12.8855	16.8222	0.85835	0.0:0.0:0.0:1.0	.	292	Q96JH7	VCIP1_HUMAN	V	292	ENSP00000309031:I292V	ENSP00000309031:I292V	I	-	1	0	VCPIP1	67740874	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATA		PASS	0.468	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			38	208	38	208	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69069666	69069666	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:69069666G>T	ENST00000288368.4	+	35	4618	c.4341G>T	c.(4339-4341)aaG>aaT	p.K1447N		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1447					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.K1447N(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAACCAGAAGCTCAGGTATG	0.323																																						uc003xxv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(4339-4341)AAG>AAT		DEP domain containing 2 isoform a							88.0	88.0	88.0					8																	69069666		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69069666G>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4341G>T	8.37:g.69069666G>T	ENSP00000288368:p.Lys1447Asn						p.K1447N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			35	4368	+			1447					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4341G>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430052	0.43122	.	.	ENSG00000046889	ENST00000288368	T	0.61742	0.08	5.7	-0.176	0.13311	.	0.053460	0.85682	D	0.000000	T	0.46908	0.1417	L	0.46157	1.445	0.41896	D	0.990398	B	0.20671	0.047	B	0.18871	0.023	T	0.36261	-0.9755	10	0.72032	D	0.01	.	10.6182	0.45462	0.4505:0.0:0.5495:0.0	.	1447	Q70Z35	PREX2_HUMAN	N	1447	ENSP00000288368:K1447N	ENSP00000288368:K1447N	K	+	3	2	PREX2	69232220	0.995000	0.38212	0.985000	0.45067	0.996000	0.88848	0.445000	0.21677	-0.350000	0.08262	0.650000	0.86243	AAG		PASS	0.323	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		15	62	15	62	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77775917	77775917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:77775917C>T	ENST00000521891.2	+	11	10415	c.9967C>T	c.(9967-9969)Cag>Tag	p.Q3323*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q3274*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q3297*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q3278*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Q3307*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ccaacagtatcagcagaacct	0.517										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9832-9834)CAG>TAG		zinc finger homeodomain 4							25.0	28.0	27.0					8																	77775917		2003	4182	6185	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775917C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9967C>T	8.37:g.77775917C>T	ENSP00000430497:p.Gln3323*	HNSCC(33;0.089)					p.Q3278*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10219	+			3274			Potential.		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.9832C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	52	18.942952	0.99912	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.03	5.03	0.67393	.	0.000000	0.40818	U	0.001018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.1723	0.89749	0.0:1.0:0.0:0.0	.	.	.	.	X	3323;3307;3278;3274;3297	.	ENSP00000050961:Q3274X	Q	+	1	0	ZFHX4	77938472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.532000	0.81985	2.636000	0.89361	0.655000	0.94253	CAG		PASS	0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	18	3	18	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120594757	120594757	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:120594757G>A	ENST00000075322.6	-	18	1687	c.1629C>T	c.(1627-1629)acC>acT	p.T543T	ENPP2_ENST00000522826.1_Silent_p.T543T|ENPP2_ENST00000427067.2_Silent_p.T539T|ENPP2_ENST00000259486.6_Silent_p.T595T|ENPP2_ENST00000522167.1_Silent_p.T182T	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	543					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T595T(1)|p.T543T(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTCTGGCATGGTTGGCCTGA	0.453																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1627-1629)ACC>ACT		autotaxin isoform 2 preproprotein							197.0	187.0	190.0					8																	120594757		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120594757G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1629C>T	8.37:g.120594757G>A						ENPP2_uc011lic.1_Silent_p.T60T|ENPP2_uc003yor.1_Silent_p.T182T|ENPP2_uc003yos.1_Silent_p.T595T|ENPP2_uc010mdd.1_Silent_p.T543T	p.T543T	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		18	1715	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		543					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.1629C>T	CCDS34936.1																																																																																				PASS	0.453	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			76	377	76	377	---	---	---	---
FBXO32	114907	broad.mit.edu	37	8	124553156	124553156	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:124553156G>A	ENST00000517956.1	-	1	290	c.99C>T	c.(97-99)ttC>ttT	p.F33F	FBXO32_ENST00000443022.2_Silent_p.F33F	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	33					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)		p.F33F(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTCGCTCACGAAACTGCCGC	0.677																																						uc003yqr.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|breast(2)|lung(1)	6						c.(97-99)TTC>TTT		F-box only protein 32 isoform 1							41.0	42.0	42.0					8																	124553156		2203	4300	6503	SO:0001819	synonymous_variant	114907							g.chr8:124553156G>A	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.99C>T	8.37:g.124553156G>A						FBXO32_uc010mdk.2_Silent_p.F33F	p.F33F	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	291	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		33					A4KYM0	Silent	SNP	ENST00000517956.1	37	c.99C>T	CCDS6345.1																																																																																				PASS	0.677	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			14	116	14	116	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131146584	131146584	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:131146584C>G	ENST00000518721.1	-	15	1402	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T	ASAP1_ENST00000357668.1_Missense_Mutation_p.R392T	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	392	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.R392T(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTGATATGTTCTATTATCTAA	0.348																																						uc003yta.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1174-1176)AGA>ACA		development and differentiation enhancing factor							95.0	89.0	91.0					8																	131146584		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131146584C>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1175G>C	8.37:g.131146584C>G	ENSP00000429900:p.Arg392Thr					ASAP1_uc003ysz.1_Missense_Mutation_p.R203T|ASAP1_uc011liw.1_Missense_Mutation_p.R385T	p.R392T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			14	1203	-			392			PH.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1175G>C	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.727207|4.727207	0.89390|0.89390	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124	T;T|.	0.75589|.	-0.95;-0.95|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.83972|.	0.5370|.	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.989|.	D;D;D|.	0.87578|.	0.998;0.998;0.991|.	D|.	0.84920|.	0.0853|.	10|.	0.87932|.	D|.	0|.	.|.	19.3579|19.3579	0.94422|0.94422	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	392;392;395|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	T|Y	395;392;392|212	ENSP00000350297:R392T;ENSP00000429900:R392T|.	ENSP00000344591:R395T|.	R|X	-|-	2|3	0|2	ASAP1|ASAP1	131215766|131215766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	7.298000|7.298000	0.78815|0.78815	2.811000|2.811000	0.96726|0.96726	0.655000|0.655000	0.94253|0.94253	AGA|TAG		PASS	0.348	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		14	71	14	71	---	---	---	---
EFR3A	23167	broad.mit.edu	37	8	133014041	133014041	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:133014041G>A	ENST00000254624.5	+	20	2418	c.2193G>A	c.(2191-2193)ttG>ttA	p.L731L	EFR3A_ENST00000521940.1_3'UTR|EFR3A_ENST00000519656.1_Silent_p.L695L|EFR3A_ENST00000334503.4_Silent_p.L731L	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	731						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.L731L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTGAAGCATTGAAGAAAGCAA	0.328																																						uc003yte.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(2191-2193)TTG>TTA		EFR3 homolog A							139.0	149.0	146.0					8																	133014041		2203	4299	6502	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:133014041G>A	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.2193G>A	8.37:g.133014041G>A							p.L731L	NM_015137	NP_055952	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		20	2394	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		731					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.2193G>A	CCDS34942.2																																																																																				PASS	0.328	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		11	85	11	85	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145006373	145006373	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:145006373C>T	ENST00000322810.4	-	17	2587	c.2418G>A	c.(2416-2418)gaG>gaA	p.E806E	PLEC_ENST00000398774.2_Silent_p.E637E|PLEC_ENST00000356346.3_Silent_p.E655E|PLEC_ENST00000354589.3_Silent_p.E669E|PLEC_ENST00000345136.3_Silent_p.E669E|PLEC_ENST00000527096.1_Silent_p.E692E|PLEC_ENST00000357649.2_Silent_p.E673E|PLEC_ENST00000354958.2_Silent_p.E647E|PLEC_ENST00000436759.2_Silent_p.E696E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	806	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E696E(1)|p.E806E(1)|p.E669E(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGATCTTCTTCTCCTTCAGCT	0.687																																						uc003zaf.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(2416-2418)GAG>GAA		plectin isoform 1							21.0	25.0	24.0					8																	145006373		1952	4113	6065	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145006373C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2418G>A	8.37:g.145006373C>T						PLEC_uc003zab.1_Silent_p.E669E|PLEC_uc003zac.1_Silent_p.E673E|PLEC_uc003zad.2_Silent_p.E669E|PLEC_uc003zae.1_Silent_p.E637E|PLEC_uc003zag.1_Silent_p.E647E|PLEC_uc003zah.2_Silent_p.E655E|PLEC_uc003zaj.2_Silent_p.E696E	p.E806E	NM_201380	NP_958782	Q15149	PLEC_HUMAN			17	2588	-			806			Spectrin 2.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.2418G>A	CCDS43772.1																																																																																				PASS	0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	89	5	89	---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145512892	145512892	+	5'Flank	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:145512892C>A	ENST00000528838.1	+	0	0				BOP1_ENST00000307404.5_Missense_Mutation_p.D65Y|BOP1_ENST00000529231.1_5'UTR	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1						cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D65Y(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CTGCCGGAATCTTCCAGGCCT	0.607																																						uc003zbr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GAT>TAT		block of proliferation 1							123.0	107.0	112.0					8																	145512892		2203	4300	6503	SO:0001631	upstream_gene_variant	23246				cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding	g.chr8:145512892C>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604		8.37:g.145512892C>A	Exception_encountered					HSF1_uc003zbt.3_5'Flank|HSF1_uc003zbu.3_5'Flank	p.D65Y	NM_015201	NP_056016	Q14137	BOP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)		2	261	-	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		65					A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.193G>T	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.354028	0.82243	.	.	ENSG00000170727	ENST00000307404	T	0.47869	0.83	4.85	4.85	0.62838	.	0.070218	0.53938	U	0.000045	T	0.54679	0.1873	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60964	-0.7158	10	0.72032	D	0.01	-14.761	15.8288	0.78736	0.0:1.0:0.0:0.0	.	65	Q14137	BOP1_HUMAN	Y	65	ENSP00000304151:D65Y	ENSP00000304151:D65Y	D	-	1	0	BOP1	145483700	1.000000	0.71417	0.961000	0.40146	0.984000	0.73092	4.830000	0.62745	2.402000	0.81655	0.655000	0.94253	GAT		PASS	0.607	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		35	198	35	198	---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145623969	145623969	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr8:145623969G>A	ENST00000349769.3	-	18	1792	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	566					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.D566D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCCGTCGTCGTCTGCTTCAG	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1696-1698)GAC>GAT		cleavage and polyadenylation specific factor 1,							103.0	102.0	102.0					8																	145623969		2203	4300	6503	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623969G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1698C>T	8.37:g.145623969G>A							p.D566D	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		18	1773	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		566					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.1698C>T	CCDS34966.1																																																																																				PASS	0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		42	442	42	442	---	---	---	---
IFNA7	3444	broad.mit.edu	37	9	21201638	21201638	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:21201638G>C	ENST00000239347.3	-	1	566	c.527C>G	c.(526-528)tCt>tGt	p.S176C		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	176					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S176C(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGTTGAAAAAGAGAAGGATCT	0.378																																						uc003zop.1																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)TCT>TGT		interferon, alpha 7 precursor							216.0	222.0	220.0					9																	21201638		2203	4300	6503	SO:0001583	missense	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21201638G>C		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.527C>G	9.37:g.21201638G>C	ENSP00000239347:p.Ser176Cys					IFNA14_uc003zoo.1_Intron	p.S176C	NM_021057	NP_066401	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	567	-			176					Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	c.527C>G	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955540	0.18507	.	.	ENSG00000214042	ENST00000239347	T	0.06371	3.31	3.71	0.457	0.16661	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.596311	0.16348	N	0.218374	T	0.16041	0.0386	M	0.93062	3.375	0.09310	N	1	B	0.29590	0.25	B	0.39419	0.299	T	0.16600	-1.0397	10	0.87932	D	0	.	5.4213	0.16402	0.2029:0.1649:0.6321:0.0	.	176	P01567	IFNA7_HUMAN	C	176	ENSP00000239347:S176C	ENSP00000239347:S176C	S	-	2	0	IFNA7	21191638	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.003000	0.12901	0.206000	0.20587	0.586000	0.80456	TCT		PASS	0.378	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		70	367	70	367	---	---	---	---
PTPDC1	138639	broad.mit.edu	37	9	96866628	96866629	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:96866628_96866629GG>TT	ENST00000375360.3	+	9	2449_2450	c.2109_2110GG>TT	c.(2107-2112)gaGGaa>gaTTaa	p.703_704EE>D*	PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.755_756EE>D*	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	703					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E703D(1)|p.E755_E756>D*(1)|p.E756*(1)|p.E703_E704>D*(1)|p.E704*(1)|p.E755D(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGGATGTGGAGGAAGCTTTCCT	0.441																																						uc004auf.1																			6	Substitution - Missense(2)|Substitution - Nonsense(2)|Complex - compound substitution(2)		lung(6)	ovary(1)	1						c.(2107-2109)GAG>GAT|c.(2110-2112)GAA>TAA		protein tyrosine phosphatase domain containing 1																																				SO:0001587	stop_gained	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96866628G>T|g.chr9:96866629G>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	Exception_encountered	9.37:g.96866628_96866629delinsTT	ENSP00000364509:p.E703_E704delinsD*					PTPDC1_uc004aug.1_Missense_Mutation_p.E698D|PTPDC1_uc004auh.1_Missense_Mutation_p.E755D|PTPDC1_uc010mrj.1_Missense_Mutation_p.E757D|PTPDC1_uc004aug.1_Nonsense_Mutation_p.E699*|PTPDC1_uc004auh.1_Nonsense_Mutation_p.E756*|PTPDC1_uc010mrj.1_Nonsense_Mutation_p.E758*	p.E703D|p.E704*	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN			9	2449|2450	+			703|704					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000375360.3	37	c.2109G>T|c.2110G>T	CCDS6707.1																																																																																				PASS	0.441	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		17	37	17	37	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104433333	104433333	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:104433333G>C	ENST00000361820.3	-	3	1961	c.1361C>G	c.(1360-1362)tCc>tGc	p.S454C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	454					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.S454C(1)|p.S454I(1)|p.S454F(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GACGATGGTGGAACCTTTTAC	0.493																																						uc004bbp.1																			3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1360-1362)TCC>TGC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						132.0	134.0	133.0					9																	104433333		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433333G>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1361C>G	9.37:g.104433333G>C	ENSP00000355155:p.Ser454Cys					GRIN3A_uc004bbq.1_Missense_Mutation_p.S454C	p.S454C	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	1962	-		Acute lymphoblastic leukemia(62;0.0568)	454			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1361C>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139483	0.37728	.	.	ENSG00000198785	ENST00000361820	D	0.86432	-2.12	5.76	5.76	0.90799	.	0.221873	0.39759	N	0.001275	D	0.89192	0.6645	M	0.65498	2.005	0.33266	D	0.560398	D	0.58620	0.983	P	0.51193	0.662	D	0.91235	0.5017	10	0.38643	T	0.18	.	15.0877	0.72167	0.0:0.0:0.8583:0.1417	.	454	Q8TCU5	NMD3A_HUMAN	C	454	ENSP00000355155:S454C	ENSP00000355155:S454C	S	-	2	0	GRIN3A	103473154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.857000	0.55972	2.882000	0.98803	0.655000	0.94253	TCC		PASS	0.493	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			84	214	84	214	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117031543	117031543	+	Missense_Mutation	SNP	C	C	G	rs139237104	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:117031543C>G	ENST00000356083.3	+	35	3915	c.3524C>G	c.(3523-3525)aCt>aGt	p.T1175S	COL27A1_ENST00000477421.2_3'UTR	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1175	Collagen-like 9.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.T1175S(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCCCTGGGCACTCCTGGGGAG	0.607																																						uc011lxl.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3523-3525)ACT>AGT		collagen, type XXVII, alpha 1 precursor							60.0	56.0	58.0					9																	117031543		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117031543C>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3524C>G	9.37:g.117031543C>G	ENSP00000348385:p.Thr1175Ser					COL27A1_uc004bii.2_RNA	p.T1175S	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			35	3524	+			1175			Pro-rich.|Collagen-like 9.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3524C>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311683	0.10789	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.53857	0.6	4.49	2.45	0.29901	.	.	.	.	.	T	0.20170	0.0485	N	0.02011	-0.69	0.18873	N	0.999989	B	0.10296	0.003	B	0.12156	0.007	T	0.27191	-1.0081	9	0.09084	T	0.74	.	4.5063	0.11889	0.0:0.5892:0.0:0.4108	.	1175	Q8IZC6	CORA1_HUMAN	S	1175	ENSP00000348385:T1175S	ENSP00000348385:T1175S	T	+	2	0	COL27A1	116071364	0.194000	0.23325	0.946000	0.38457	0.989000	0.77384	0.458000	0.21892	0.407000	0.25591	0.591000	0.81541	ACT		PASS	0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		13	40	13	40	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123922541	123922541	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:123922541C>A	ENST00000373855.1	+	32	5310	c.5050C>A	c.(5050-5052)Ctt>Att	p.L1684I	CNTRL_ENST00000373844.1_Missense_Mutation_p.L129I|CNTRL_ENST00000373850.1_Missense_Mutation_p.L1132I|CNTRL_ENST00000238341.5_Missense_Mutation_p.L1684I|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1684					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.L1684I(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGAAGAAAATCTTCAGGTTGT	0.318																																						uc004bkx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(5050-5052)CTT>ATT		centrosomal protein 110kDa							74.0	87.0	83.0					9																	123922541		2203	4293	6496	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123922541C>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5050C>A	9.37:g.123922541C>A	ENSP00000362962:p.Leu1684Ile					CEP110_uc010mvo.1_Missense_Mutation_p.L353I|CEP110_uc004blb.1_Missense_Mutation_p.L353I|CEP110_uc010mvp.1_5'UTR	p.L1684I	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			30	5081	+			1684			Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.5050C>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683285	0.88542	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373845;ENST00000373844	T;T;T	0.28895	1.59;1.59;1.59	5.62	5.62	0.85841	.	.	.	.	.	T	0.55721	0.1938	M	0.70275	2.135	0.45239	D	0.998249	D	0.69078	0.997	D	0.78314	0.991	T	0.48031	-0.9070	9	0.30854	T	0.27	.	18.6434	0.91402	0.0:1.0:0.0:0.0	.	1684	Q7Z7A1	CNTRL_HUMAN	I	1684;1684;1684;440;1132;366;129	ENSP00000362962:L1684I;ENSP00000238341:L1684I;ENSP00000362956:L1132I	ENSP00000238341:L1684I	L	+	1	0	CNTRL	122962362	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.155000	0.64900	2.642000	0.89623	0.591000	0.81541	CTT		PASS	0.318	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		56	88	56	88	---	---	---	---
OR1L4	254973	broad.mit.edu	37	9	125486937	125486937	+	Silent	SNP	C	C	A	rs140014211		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:125486937C>A	ENST00000259466.1	+	1	669	c.669C>A	c.(667-669)atC>atA	p.I223I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I223I(2)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGCAAATCATCGTCACTGTGC	0.542																																						uc004bmu.1																			2	Substitution - coding silent(2)		lung(1)|skin(1)		0						c.(667-669)ATC>ATA		olfactory receptor, family 1, subfamily L,							384.0	353.0	364.0					9																	125486937		2203	4300	6503	SO:0001819	synonymous_variant	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486937C>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.669C>A	9.37:g.125486937C>A							p.I223I	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	669	+			223			Cytoplasmic (Potential).		Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	c.669C>A	CCDS35129.1																																																																																				PASS	0.542	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			107	535	107	535	---	---	---	---
SH2D3C	10044	broad.mit.edu	37	9	130504196	130504196	+	Silent	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:130504196G>T	ENST00000314830.8	-	9	2072	c.1959C>A	c.(1957-1959)ggC>ggA	p.G653G	SH2D3C_ENST00000373277.4_Silent_p.G496G|SH2D3C_ENST00000373276.3_Silent_p.G585G|SH2D3C_ENST00000420366.1_Silent_p.G495G|SH2D3C_ENST00000373274.3_Silent_p.G493G|SH2D3C_ENST00000429553.1_Silent_p.G299G|SH2D3C_ENST00000471939.1_5'Flank	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	653	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.G653G(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCCGGTGCAGCCCAGGATGT	0.687																																						uc004bsc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1957-1959)GGC>GGA		SH2 domain containing 3C isoform a							25.0	23.0	24.0					9																	130504196		2201	4297	6498	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130504196G>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1959C>A	9.37:g.130504196G>T						SH2D3C_uc010mxo.2_Silent_p.G493G|SH2D3C_uc004bry.2_Silent_p.G495G|SH2D3C_uc004brz.3_Silent_p.G299G|SH2D3C_uc011mak.1_Silent_p.G299G|SH2D3C_uc004bsa.2_Silent_p.G496G|SH2D3C_uc004bsb.2_Silent_p.G585G	p.G653G	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			9	2101	-			653			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.1959C>A	CCDS6877.1																																																																																				PASS	0.687	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		6	55	6	55	---	---	---	---
FPGS	2356	broad.mit.edu	37	9	130569530	130569530	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:130569530A>G	ENST00000373247.2	+	6	594	c.544A>G	c.(544-546)Aca>Gca	p.T182A	FPGS_ENST00000373245.1_Missense_Mutation_p.T182A|FPGS_ENST00000373225.3_Missense_Mutation_p.T132A|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Intron	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	182					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)	p.T182A(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CCGCTTCCTGACACTCATGGC	0.612																																						uc004bsg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)ACA>GCA		folylpolyglutamate synthase isoform a precursor	L-Glutamic Acid(DB00142)						168.0	149.0	155.0					9																	130569530		2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130569530A>G		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.544A>G	9.37:g.130569530A>G	ENSP00000362344:p.Thr182Ala					FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Intron|FPGS_uc004bsi.1_Missense_Mutation_p.T132A	p.T182A	NM_004957	NP_004948	Q05932	FOLC_HUMAN			6	594	+			182					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.544A>G	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700148	0.88924	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000373228;ENST00000373225;ENST00000431857	T;T;T;T	0.53857	1.87;0.6;0.6;1.53	5.47	5.47	0.80525	Mur ligase, central (2);	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.75077	-0.3445	10	0.59425	D	0.04	-19.0204	14.7219	0.69314	1.0:0.0:0.0:0.0	.	182	Q05932	FOLC_HUMAN	A	182;182;182;132;132	ENSP00000362344:T182A;ENSP00000362342:T182A;ENSP00000362325:T182A;ENSP00000362322:T132A	ENSP00000362322:T132A	T	+	1	0	FPGS	129609351	1.000000	0.71417	0.991000	0.47740	0.885000	0.51271	9.149000	0.94659	2.089000	0.63090	0.374000	0.22700	ACA		PASS	0.612	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			119	197	119	197	---	---	---	---
URM1	81605	broad.mit.edu	37	9	131151543	131151543	+	Silent	SNP	G	G	A	rs372448639	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:131151543G>A	ENST00000372853.4	+	4	254	c.192G>A	c.(190-192)cgG>cgA	p.R64R	URM1_ENST00000452446.1_Silent_p.R64R|RP11-339B21.11_ENST00000609303.1_lincRNA|URM1_ENST00000372850.1_3'UTR|URM1_ENST00000483206.1_3'UTR	NM_001265582.1|NM_030914.3	NP_001252511.1|NP_112176.1			ubiquitin related modifier 1									p.R64R(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						CCCACAGGCGGCCAGGAATTC	0.592													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19875	0.0		0.0	False		,,,				2504	0.0					uc004buv.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(190-192)CGG>CGA		ubiquitin related modifier 1 homolog isoform a		G	,	1,4405	2.1+/-5.4	0,1,2202	95.0	89.0	91.0		192,192	0.6	1.0	9		91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	URM1	NM_001135947.1,NM_030914.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	64/147,64/102	131151543	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81605				tRNA thio-modification|tRNA wobble uridine modification		protein binding	g.chr9:131151543G>A	AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"""chromosome 9 open reading frame 74"", ""ubiquitin related modifier 1 homolog (S. cerevisiae)"""	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742	ENST00000372853.4:c.192G>A	9.37:g.131151543G>A						URM1_uc011may.1_Silent_p.R64R|URM1_uc004buw.2_RNA	p.R64R	NM_030914	NP_112176	Q9BTM9	URM1_HUMAN			4	254	+			64						Silent	SNP	ENST00000372853.4	37	c.192G>A	CCDS6900.1																																																																																				PASS	0.592	URM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054422.1	NM_030914		72	148	72	148	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136662864	136662864	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:136662864C>T	ENST00000371850.3	-	10	935	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	VAV2_ENST00000371851.1_Missense_Mutation_p.A297T|VAV2_ENST00000406606.3_Missense_Mutation_p.A297T	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	302	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A302T(1)|p.A297T(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCCCGGCTGGCCAGGAGCTGG	0.617																																						uc004ces.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(904-906)GCC>ACC		vav 2 guanine nucleotide exchange factor isoform							110.0	92.0	98.0					9																	136662864		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136662864C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.904G>A	9.37:g.136662864C>T	ENSP00000360916:p.Ala302Thr					VAV2_uc004cer.2_Missense_Mutation_p.A297T	p.A302T	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	10	950	-			302			DH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.904G>A	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785486	0.70337	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.63096	-0.02;-0.02;-0.02	4.01	4.01	0.46588	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	N	0.19112	0.55	0.80722	D	1	D;B	0.89917	1.0;0.11	D;B	0.91635	0.999;0.067	T	0.65352	-0.6189	10	0.28530	T	0.3	.	16.4937	0.84209	0.0:1.0:0.0:0.0	.	302;297	P52735;P52735-3	VAV2_HUMAN;.	T	302;297;297;297	ENSP00000360916:A302T;ENSP00000360917:A297T;ENSP00000385362:A297T	ENSP00000317258:A297T	A	-	1	0	VAV2	135652685	1.000000	0.71417	0.988000	0.46212	0.875000	0.50365	5.403000	0.66338	1.943000	0.56356	0.563000	0.77884	GCC		PASS	0.617	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			23	46	23	46	---	---	---	---
SSNA1	8636	broad.mit.edu	37	9	140083606	140083606	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr9:140083606G>A	ENST00000322310.5	+	2	221	c.141G>A	c.(139-141)gtG>gtA	p.V47V	ANAPC2_ENST00000323927.2_5'Flank|SSNA1_ENST00000459860.1_3'UTR	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	47					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport (GO:0042073)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.V47V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		AGAATGAGGTGAGGCAGCTGA	0.652																																						uc004cls.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(139-141)GTG>GTA		nuclear autoantigen of 14 kDa							36.0	29.0	31.0					9																	140083606		2199	4296	6495	SO:0001819	synonymous_variant	8636				G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus		g.chr9:140083606G>A	Z96932	CCDS7034.1	9q34.3	2008-02-05	2007-10-04		ENSG00000176101	ENSG00000176101			11321	protein-coding gene	gene with protein product		610882	"""Sjogren's syndrome nuclear autoantigen 1"""			9430706	Standard	NM_003731		Approved	NA14, N14	uc004cls.2	O43805	OTTHUMG00000020982	ENST00000322310.5:c.141G>A	9.37:g.140083606G>A						ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank	p.V47V	NM_003731	NP_003722	O43805	SSNA1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)	2	266	+	all_cancers(76;0.0926)		47			Potential.		Q5VSG0|Q6FG70|Q9BVW8	Silent	SNP	ENST00000322310.5	37	c.141G>A	CCDS7034.1																																																																																				PASS	0.652	SSNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055311.1	NM_003731		14	31	14	31	---	---	---	---
FAM208B	54906	broad.mit.edu	37	10	5803348	5803348	+	Missense_Mutation	SNP	G	G	A	rs543461908	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:5803348G>A	ENST00000328090.5	+	19	7713	c.7088G>A	c.(7087-7089)cGa>cAa	p.R2363Q		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2363								p.R2363Q(1)									TGTGACTCTCGATCATCAACA	0.388																																						uc001iij.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(7087-7089)CGA>CAA		hypothetical protein LOC54906							128.0	119.0	121.0					10																	5803348		1885	4117	6002	SO:0001583	missense	54906							g.chr10:5803348G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7088G>A	10.37:g.5803348G>A	ENSP00000328426:p.Arg2363Gln					C10orf18_uc001iik.2_Missense_Mutation_p.R1207Q	p.R2363Q	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			19	7713	+			2363					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.7088G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	7.936	0.741810	0.15642	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.34472	1.36	6.06	-4.42	0.03579	.	1.075400	0.07195	N	0.856424	T	0.16811	0.0404	N	0.25144	0.715	0.09310	N	1	B	0.21688	0.059	B	0.13407	0.009	T	0.25012	-1.0144	10	0.15499	T	0.54	.	2.4288	0.04466	0.3705:0.309:0.2214:0.0992	.	2363	Q5VWN6	F208B_HUMAN	Q	2363;1558	ENSP00000328426:R2363Q	ENSP00000328426:R2363Q	R	+	2	0	C10orf18	5843354	0.000000	0.05858	0.002000	0.10522	0.299000	0.27559	-1.301000	0.02749	-0.631000	0.05560	0.650000	0.86243	CGA		PASS	0.388	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		33	163	33	163	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15325930	15325930	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:15325930G>C	ENST00000378116.4	-	2	278	c.272C>G	c.(271-273)tCg>tGg	p.S91W		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S91W(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCATGCTTCGAGGCGGTGAC	0.547																																						uc001iob.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(271-273)TCG>TGG		hypothetical protein LOC221061 precursor							110.0	91.0	98.0					10																	15325930		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15325930G>C	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.272C>G	10.37:g.15325930G>C	ENSP00000367356:p.Ser91Trp						p.S91W	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			2	279	-			91			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.272C>G	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592685	0.66219	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.32753	1.44;1.44	5.07	3.1	0.35709	.	0.336974	0.33253	N	0.005102	T	0.39462	0.1079	L	0.50333	1.59	0.48762	D	0.999704	D	0.56968	0.978	P	0.54460	0.753	T	0.32719	-0.9896	10	0.66056	D	0.02	-9.3988	11.6764	0.51432	0.0761:0.1853:0.7386:0.0	.	91	Q5VUB5	F1711_HUMAN	W	91;91;92;91	ENSP00000367356:S91W;ENSP00000407796:S91W	ENSP00000367354:S91W	S	-	2	0	FAM171A1	15365936	1.000000	0.71417	0.994000	0.49952	0.834000	0.47266	4.133000	0.57983	1.270000	0.44297	0.591000	0.81541	TCG		PASS	0.547	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		16	106	16	106	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15726081	15726081	+	Missense_Mutation	SNP	C	C	T	rs368735214		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:15726081C>T	ENST00000378076.3	-	4	843	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	164					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.E164K(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGGTCCTTTTCTGGTGTCGGT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		17877	0.0		0.001	False		,,,				2504	0.0					uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(490-492)GAA>AAA		integrin, alpha 8 precursor		C	LYS/GLU	0,4406		0,0,2203	93.0	94.0	93.0		490	6.0	0.1	10		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA8	NM_003638.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	164/1064	15726081	1,13005	2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15726081C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.490G>A	10.37:g.15726081C>T	ENSP00000367316:p.Glu164Lys					ITGA8_uc010qcb.1_Missense_Mutation_p.E164K	p.E164K	NM_003638	NP_003629	P53708	ITA8_HUMAN			4	490	-			164			Extracellular (Potential).|FG-GAP 2.		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.490G>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483619	0.84854	0.0	1.16E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.54071	0.59	6.03	6.03	0.97812	.	0.088606	0.85682	D	0.000000	T	0.61924	0.2386	L	0.58669	1.825	0.58432	D	0.999999	P;P	0.48998	0.918;0.866	P;B	0.49829	0.623;0.419	T	0.56032	-0.8046	10	0.34782	T	0.22	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	164;164	F5H818;P53708	.;ITA8_HUMAN	K	164	ENSP00000367316:E164K	ENSP00000367316:E164K	E	-	1	0	ITGA8	15766087	1.000000	0.71417	0.112000	0.21494	0.334000	0.28698	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GAA		PASS	0.423	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		19	87	19	87	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16873253	16873253	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:16873253G>C	ENST00000377833.4	-	65	10591	c.10526C>G	c.(10525-10527)tCt>tGt	p.S3509C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3509					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S3509C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCTTACCAGAGGGTGATGA	0.363																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10525-10527)TCT>TGT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						99.0	91.0	93.0					10																	16873253		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16873253G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10526C>G	10.37:g.16873253G>C	ENSP00000367064:p.Ser3509Cys						p.S3509C	NM_001081	NP_001072	O60494	CUBN_HUMAN			65	10578	-			3509					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10526C>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481351	0.44147	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.77358	-1.09	4.75	3.76	0.43208	CUB (1);	0.754884	0.11363	N	0.571729	D	0.84884	0.5571	M	0.89785	3.06	0.21445	N	0.99968	D	0.65815	0.995	P	0.55785	0.784	T	0.75668	-0.3238	10	0.44086	T	0.13	.	4.577	0.12238	0.0945:0.1623:0.5967:0.1465	.	3509	O60494	CUBN_HUMAN	C	3509;350	ENSP00000367064:S3509C	ENSP00000367064:S3509C	S	-	2	0	CUBN	16913259	0.066000	0.20996	0.585000	0.28666	0.659000	0.38960	1.630000	0.37081	2.455000	0.83008	0.561000	0.74099	TCT		PASS	0.363	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		22	109	22	109	---	---	---	---
VIM	7431	broad.mit.edu	37	10	17275778	17275778	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:17275778G>A	ENST00000224237.5	+	4	875	c.730G>A	c.(730-732)Gag>Aag	p.E244K	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.E244K			P08670	VIME_HUMAN	vimentin	244	Coil 1B.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E244K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAAATCCAGGAGCTGCAGGC	0.532																																						uc001iou.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(730-732)GAG>AAG		vimentin							78.0	71.0	74.0					10																	17275778		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17275778G>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.730G>A	10.37:g.17275778G>A	ENSP00000224237:p.Glu244Lys					VIM_uc001iov.1_Missense_Mutation_p.E244K|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E244K|VIM_uc001ioy.1_Missense_Mutation_p.E244K|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E244K|VIM_uc001ipc.1_Missense_Mutation_p.E244K	p.E244K	NM_003380	NP_003371	P08670	VIME_HUMAN			5	1143	+			244			Rod.|Coil 1B.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.730G>A	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	36	5.698123	0.96802	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.90197	-2.63;-2.63;-2.63	6.14	5.23	0.72850	Filament (1);	0.000000	0.47093	D	0.000250	D	0.95875	0.8657	M	0.87971	2.92	0.80722	D	1	D;P;D;D;D	0.89917	0.999;0.928;0.993;1.0;0.995	D;P;D;D;D	0.77557	0.962;0.726;0.924;0.99;0.937	D	0.96555	0.9411	10	0.87932	D	0	.	16.8137	0.85727	0.0:0.0:0.8701:0.1299	.	244;231;231;244;244	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	K	244;244;231;70	ENSP00000446007:E244K;ENSP00000224237:E244K;ENSP00000391842:E70K	ENSP00000224237:E244K	E	+	1	0	VIM	17315784	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.789000	0.99068	1.578000	0.49821	0.637000	0.83480	GAG		PASS	0.532	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		19	89	19	89	---	---	---	---
KIF5B	3799	broad.mit.edu	37	10	32306105	32306105	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:32306105C>T	ENST00000302418.4	-	24	3184	c.2727G>A	c.(2725-2727)aaG>aaA	p.K909K	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	909					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K909K(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGGCCATATTCTTTGACCTGA	0.398			T	"""RET, ALK"""	NSCLC																																	uc001iwe.3				Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(1)	5						c.(2725-2727)AAG>AAA		kinesin family member 5B							288.0	260.0	270.0					10																	32306105		2203	4300	6503	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32306105C>T	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2727G>A	10.37:g.32306105C>T							p.K909K	NM_004521	NP_004512	P33176	KINH_HUMAN			24	3197	-		Prostate(175;0.0137)	909					A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.2727G>A	CCDS7171.1																																																																																				PASS	0.398	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		98	428	98	428	---	---	---	---
CXCL12	6387	broad.mit.edu	37	10	44880406	44880406	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:44880406G>C	ENST00000374429.2	-	1	134	c.48C>G	c.(46-48)ctC>ctG	p.L16L	CXCL12_ENST00000395795.4_Silent_p.L16L|CXCL12_ENST00000395794.2_Silent_p.L16L|CXCL12_ENST00000343575.6_Silent_p.L16L|CXCL12_ENST00000496375.1_Intron|CXCL12_ENST00000374426.2_Silent_p.L16L|CXCL12_ENST00000395793.3_Silent_p.L16L	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	16					adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)	p.L16L(3)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	CGCTGAGGCAGAGCGCGGTCA	0.781																																						uc001jbf.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(46-48)CTC>CTG		chemokine (C-X-C motif) ligand 12 (stromal	Dexamethasone(DB01234)						6.0	7.0	7.0					10																	44880406		2037	4055	6092	SO:0001819	synonymous_variant	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44880406G>C	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"""Endogenous ligands"""	10672	protein-coding gene	gene with protein product		600835	"""stromal cell-derived factor 1"""	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.48C>G	10.37:g.44880406G>C						CXCL12_uc001jbh.2_Silent_p.L16L|CXCL12_uc001jbi.2_Silent_p.L16L	p.L16L	NM_000609	NP_000600	P48061	SDF1_HUMAN			1	137	-			16					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Silent	SNP	ENST00000374429.2	37	c.48C>G	CCDS44373.1																																																																																				PASS	0.781	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		3	20	3	20	---	---	---	---
ASAH2B	653308	broad.mit.edu	37	10	52502713	52502713	+	Missense_Mutation	SNP	G	G	A	rs567646122		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:52502713G>A	ENST00000374006.1	+	2	94	c.29G>A	c.(28-30)cGc>cAc	p.R10H	ASAH2B_ENST00000483649.1_3'UTR|ASAH2B_ENST00000374007.1_5'UTR|ASAH2B_ENST00000185907.9_5'UTR	NM_001079516.1	NP_001072984.1	P0C7U1	ASA2B_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B	10								p.R10H(1)		large_intestine(2)|lung(2)	4						TTTATGGACCGCACGCATTAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20097	0.0		0.0	False		,,,				2504	0.001					uc001jjg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)CGC>CAC		N-acylsphingosine amidohydrolase (non-lysosomal							333.0	290.0	305.0					10																	52502713		2203	4300	6503	SO:0001583	missense	653308				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:52502713G>A	BI553338	CCDS31203.1	10q11.23	2010-05-04			ENSG00000204147	ENSG00000204147			23456	protein-coding gene	gene with protein product		610987				17334805	Standard	NM_001079516		Approved	bA449O16.3, ASAH2L	uc001jjg.4	P0C7U1	OTTHUMG00000018239	ENST00000374006.1:c.29G>A	10.37:g.52502713G>A	ENSP00000363118:p.Arg10His					ASAH2B_uc010qhm.1_5'UTR	p.R10H	NM_001079516	NP_001072984	Q9NR71	ASAH2_HUMAN			2	94	+			Error:Variant_position_missing_in_Q9NR71_after_alignment					B7Z261	Missense_Mutation	SNP	ENST00000374006.1	37	c.29G>A	CCDS31203.1	.	.	.	.	.	.	.	.	.	.	G	2.472	-0.321759	0.05386	.	.	ENSG00000204147	ENST00000374006	.	.	.	2.83	-2.27	0.06846	.	0.228493	0.34580	U	0.003846	T	0.24699	0.0599	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04495	-1.0947	9	0.72032	D	0.01	-19.5077	0.3542	0.00354	0.3899:0.2497:0.1515:0.2089	.	10	P0C7U1	ASA2B_HUMAN	H	10	.	ENSP00000363118:R10H	R	+	2	0	ASAH2B	52172719	0.922000	0.31269	0.982000	0.44146	0.143000	0.21401	-0.137000	0.10389	-0.146000	0.11274	-2.209000	0.00301	CGC		PASS	0.453	ASAH2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048084.1			40	207	40	207	---	---	---	---
TSPAN15	23555	broad.mit.edu	37	10	71243548	71243548	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:71243548C>T	ENST00000373290.2	+	2	320	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	66					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.L66L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						CCATCATCCTCATCCTCCTGG	0.552																																						uc001jpo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(196-198)CTC>CTT		transmembrane 4 superfamily member 15							179.0	137.0	151.0					10																	71243548		2203	4300	6503	SO:0001819	synonymous_variant	23555					integral to plasma membrane|membrane fraction		g.chr10:71243548C>T	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"""Tetraspanins"""	23298	protein-coding gene	gene with protein product		613140	"""transmembrane 4 superfamily member 15"""	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.198C>T	10.37:g.71243548C>T							p.L66L	NM_012339	NP_036471	O95858	TSN15_HUMAN			2	323	+			66			Helical; (Potential).		Q6UW79	Silent	SNP	ENST00000373290.2	37	c.198C>T	CCDS7294.1																																																																																				PASS	0.552	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1	NM_012339		25	122	25	122	---	---	---	---
C10orf55	414236	broad.mit.edu	37	10	75676259	75676259	+	Intron	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:75676259G>C	ENST00000409178.1	-	2	268				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Missense_Mutation_p.R394T|PLAU_ENST00000372762.4_Missense_Mutation_p.R375T|PLAU_ENST00000372764.3_Missense_Mutation_p.R411T	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.R411T(1)		endometrium(1)	1	Prostate(51;0.0112)					GTCTACACGAGAGTCTCACAC	0.602																																						uc001jwa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(1231-1233)AGA>ACA		plasminogen activator, urokinase isoform 1	Amiloride(DB00594)|Urokinase(DB00013)						60.0	49.0	53.0					10																	75676259		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75676259G>C		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.72+17C>G	10.37:g.75676259G>C						C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.R394T|PLAU_uc010qkx.1_Missense_Mutation_p.R325T|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Missense_Mutation_p.R411T|PLAU_uc009xrq.1_Missense_Mutation_p.R375T	p.R411T	NM_002658	NP_002649	P00749	UROK_HUMAN			11	1378	+	Prostate(51;0.0112)		411			Peptidase S1.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.1232G>C	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516748	0.44763	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.36878	1.23;1.23;1.23	5.62	4.72	0.59763	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.188442	0.51477	D	0.000099	T	0.62829	0.2460	M	0.89715	3.055	0.80722	D	1	D;D;D;P	0.76494	0.997;0.996;0.999;0.89	D;D;D;P	0.72075	0.976;0.969;0.973;0.632	T	0.68187	-0.5475	10	0.87932	D	0	.	8.4695	0.32977	0.1739:0.0:0.8261:0.0	.	394;375;411;411	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	T	394;411;375;375	ENSP00000388474:R394T;ENSP00000361850:R411T;ENSP00000361848:R375T	ENSP00000361847:R375T	R	+	2	0	PLAU	75346265	0.119000	0.22226	0.995000	0.50966	0.202000	0.24057	1.456000	0.35201	1.382000	0.46385	0.555000	0.69702	AGA		PASS	0.602	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		6	41	6	41	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84745006	84745006	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:84745006C>T	ENST00000404547.1	+	10	1808	c.1808C>T	c.(1807-1809)tCa>tTa	p.S603L	NRG3_ENST00000556918.1_Missense_Mutation_p.S409L|NRG3_ENST00000372142.2_Missense_Mutation_p.S382L|NRG3_ENST00000545131.1_Missense_Mutation_p.S229L|NRG3_ENST00000372141.2_Missense_Mutation_p.S579L|NRG3_ENST00000404576.2_Missense_Mutation_p.S383L|NRG3_ENST00000537893.1_Missense_Mutation_p.S229L			P56975	NRG3_HUMAN	neuregulin 3	603					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S579L(1)|p.S382L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ATCATCCCTTCAGTGGGTTTA	0.468																																						uc001kco.2																			2	Substitution - Missense(2)		lung(2)	lung(5)|breast(1)	6						c.(1735-1737)TCA>TTA		neuregulin 3 isoform 1							115.0	121.0	119.0					10																	84745006		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745006C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1808C>T	10.37:g.84745006C>T	ENSP00000384796:p.Ser603Leu					NRG3_uc010qlz.1_Missense_Mutation_p.S578L|NRG3_uc001kcp.2_Missense_Mutation_p.S382L|NRG3_uc001kcq.2_Missense_Mutation_p.S229L|NRG3_uc001kcr.2_Missense_Mutation_p.S253L	p.S579L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	1763	+			603			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1736C>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779851	0.70222	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.58652	0.93;0.51;0.57;0.32;0.9;0.41;0.41	5.95	5.95	0.96441	.	0.179248	0.39615	N	0.001303	T	0.74145	0.3678	L	0.58101	1.795	0.58432	D	0.999991	D;D;D;D	0.89917	0.996;1.0;1.0;0.996	D;D;D;D	0.85130	0.99;0.997;0.996;0.99	T	0.74827	-0.3532	10	0.87932	D	0	-27.6069	17.8962	0.88888	0.0:1.0:0.0:0.0	.	578;603;382;579	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	L	579;603;578;382;383;409;229;229	ENSP00000361214:S579L;ENSP00000384796:S603L;ENSP00000361215:S382L;ENSP00000385804:S383L;ENSP00000451376:S409L;ENSP00000441201:S229L;ENSP00000440377:S229L	ENSP00000361214:S579L	S	+	2	0	NRG3	84734986	0.999000	0.42202	0.996000	0.52242	0.999000	0.98932	5.274000	0.65569	2.827000	0.97445	0.650000	0.86243	TCA		PASS	0.468	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		60	272	60	272	---	---	---	---
GLUD1	2746	broad.mit.edu	37	10	88854340	88854340	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:88854340C>T	ENST00000277865.4	-	1	283	c.187G>A	c.(187-189)Gac>Aac	p.D63N	FAM35A_ENST00000298784.1_5'Flank|GLUD1_ENST00000544149.1_5'Flank|FAM35A_ENST00000298786.4_5'Flank|GLUD1_ENST00000537649.1_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	63					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)	p.D63N(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	AAGTTGGGGTCGTCCTCGCGG	0.721																																						uc001keh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)GAC>AAC		glutamate dehydrogenase 1 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						56.0	62.0	60.0					10																	88854340		2202	4300	6502	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88854340C>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.187G>A	10.37:g.88854340C>T	ENSP00000277865:p.Asp63Asn					FAM35A_uc001kei.3_5'Flank|GLUD1_uc001keg.2_5'Flank|GLUD1_uc010qmp.1_5'Flank	p.D63N	NM_005271	NP_005262	P00367	DHE3_HUMAN			1	284	-			63					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.187G>A	CCDS7382.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.79|12.79	2.043772|2.043772	0.36085|0.36085	.|.	.|.	ENSG00000148672|ENSG00000148672	ENST00000277865|ENST00000394415	D|.	0.97016|.	-4.21|.	4.02|4.02	3.12|3.12	0.35913|0.35913	.|.	0.058537|.	0.64402|.	N|.	0.000003|.	T|T	0.38188|0.38188	0.1031|0.1031	N|N	0.11724|0.11724	0.165|0.165	0.80722|0.80722	D|D	1|1	B|.	0.16396|.	0.017|.	B|.	0.11329|.	0.006|.	T|T	0.17077|0.17077	-1.0381|-1.0381	10|6	0.30854|0.33141	T|T	0.27|0.24	.|.	10.534|10.534	0.44994|0.44994	0.0:0.9021:0.0:0.0979|0.0:0.9021:0.0:0.0979	.|.	63|.	P00367|.	DHE3_HUMAN|.	N|Q	63|36	ENSP00000277865:D63N|.	ENSP00000277865:D63N|ENSP00000377937:R36Q	D|R	-|-	1|2	0|0	GLUD1|GLUD1	88844320|88844320	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.264000|0.264000	0.26372|0.26372	5.313000|5.313000	0.65798|0.65798	0.897000|0.897000	0.36392|0.36392	-0.339000|-0.339000	0.08088|0.08088	GAC|CGA		PASS	0.721	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		18	285	18	285	---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101715112	101715112	+	Missense_Mutation	SNP	T	T	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:101715112T>G	ENST00000324109.4	-	4	2210	c.2119A>C	c.(2119-2121)Atg>Ctg	p.M707L	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.M707L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	707					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M707L(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTACTGTACATATCCAAGTCC	0.512																																						uc001kqj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2119-2121)ATG>CTG		dynamin binding protein							103.0	89.0	94.0					10																	101715112		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715112T>G	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2119A>C	10.37:g.101715112T>G	ENSP00000315659:p.Met707Leu					NCRNA00093_uc001kqk.1_Intron	p.M707L	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	2211	-		Colorectal(252;0.234)	707			Potential.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.2119A>C	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.633952	0.29068	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.11604	2.82;2.76	5.8	0.738	0.18319	.	0.511109	0.18205	N	0.148387	T	0.08133	0.0203	L	0.47716	1.5	0.27464	N	0.953079	B	0.17465	0.022	B	0.08055	0.003	T	0.41520	-0.9504	10	0.10636	T	0.68	-15.5613	8.5705	0.33567	0.0:0.6279:0.0:0.3721	.	707	Q6XZF7	DNMBP_HUMAN	L	707	ENSP00000344914:M707L;ENSP00000315659:M707L	ENSP00000315659:M707L	M	-	1	0	DNMBP	101705102	0.995000	0.38212	0.989000	0.46669	0.719000	0.41307	0.749000	0.26320	0.129000	0.18514	0.402000	0.26972	ATG		PASS	0.512	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		4	121	4	121	---	---	---	---
CYP17A1	1586	broad.mit.edu	37	10	104594716	104594716	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:104594716G>A	ENST00000369887.3	-	3	663	c.492C>T	c.(490-492)tcC>tcT	p.S164S	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	164					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)	p.S164S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	AGATGTCTATGGACTGTCCGT	0.493											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kwg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(490-492)TCC>TCT		cytochrome P450, family 17	NADH(DB00157)|Progesterone(DB00396)						172.0	146.0	155.0					10																	104594716		2203	4300	6503	SO:0001819	synonymous_variant	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104594716G>A	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.492C>T	10.37:g.104594716G>A			OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	172		p.S164S	NM_000102	NP_000093	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	664	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	164					Q5TZV7	Silent	SNP	ENST00000369887.3	37	c.492C>T	CCDS7541.1																																																																																				PASS	0.493	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		27	153	27	153	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106960951	106960951	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:106960951G>A	ENST00000369701.3	+	16	2428	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	SORCS3_ENST00000369699.4_Missense_Mutation_p.R20Q	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	734					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R734Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCCTGGGCCGAGACCACTCA	0.488																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2200-2202)CGA>CAA		VPS10 domain receptor protein SORCS 3 precursor							124.0	108.0	113.0					10																	106960951		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960951G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2201G>A	10.37:g.106960951G>A	ENSP00000358715:p.Arg734Gln					SORCS3_uc010qqz.1_RNA	p.R734Q	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	16	2428	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	734			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2201G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975681	0.53720	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.31247	1.59;1.5	5.78	3.93	0.45458	VPS10 (1);	0.254621	0.34879	N	0.003602	T	0.17959	0.0431	L	0.41236	1.265	0.35857	D	0.82719	P	0.43607	0.812	B	0.26693	0.072	T	0.20706	-1.0267	9	.	.	.	.	9.8056	0.40791	0.2092:0.0:0.7908:0.0	.	734	Q9UPU3	SORC3_HUMAN	Q	734;20	ENSP00000358715:R734Q;ENSP00000358713:R20Q	.	R	+	2	0	SORCS3	106950941	0.869000	0.29996	0.992000	0.48379	0.914000	0.54420	2.783000	0.47766	0.792000	0.33850	0.650000	0.86243	CGA		PASS	0.488	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		22	99	22	99	---	---	---	---
GPAM	57678	broad.mit.edu	37	10	113924352	113924352	+	Missense_Mutation	SNP	T	T	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:113924352T>A	ENST00000348367.4	-	13	1435	c.1238A>T	c.(1237-1239)cAa>cTa	p.Q413L	GPAM_ENST00000423155.1_Missense_Mutation_p.Q413L|GPAM_ENST00000369425.1_Missense_Mutation_p.Q413L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	413					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.Q413L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTTCTGACTTTGGCTTTCTAA	0.358																																					Ovarian(161;1017 2606 18293 52943)	uc009xxy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1237-1239)CAA>CTA		mitochondrial glycerol 3-phosphate							62.0	65.0	64.0					10																	113924352		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113924352T>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1238A>T	10.37:g.113924352T>A	ENSP00000265276:p.Gln413Leu					GPAM_uc001kzp.2_Missense_Mutation_p.Q413L|GPAM_uc001kzq.1_Missense_Mutation_p.Q413L	p.Q413L	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	13	1436	-			413					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.1238A>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174509	0.78452	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93547	-3.24;-3.24;-3.24	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.90837	0.7122	L	0.39633	1.23	0.80722	D	1	P;P	0.47106	0.89;0.759	P;B	0.45232	0.474;0.306	D	0.90228	0.4277	10	0.38643	T	0.18	-15.033	13.7231	0.62740	0.0:0.0:0.0:1.0	.	413;413	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	L	413	ENSP00000265276:Q413L;ENSP00000409242:Q413L;ENSP00000358433:Q413L	ENSP00000265276:Q413L	Q	-	2	0	GPAM	113914342	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.953000	0.70290	1.969000	0.57287	0.523000	0.50628	CAA		PASS	0.358	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		16	46	16	46	---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118451946	118451946	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:118451946C>T	ENST00000369209.3	-	6	683	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	193						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E814E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CATCAGAGTTCTCGAACTCCG	0.572																																						uc001lct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(577-579)GAG>GAA		heat shock 70kDa protein 12A							132.0	143.0	139.0					10																	118451946		2186	4300	6486	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118451946C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.579G>A	10.37:g.118451946C>T						HSPA12A_uc001lcu.2_Silent_p.E110E	p.E193E	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	6	684	-			193						Silent	SNP	ENST00000369209.3	37	c.579G>A	CCDS41569.1																																																																																				PASS	0.572	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		58	339	58	339	---	---	---	---
SEC23IP	11196	broad.mit.edu	37	10	121677437	121677437	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:121677437C>T	ENST00000369075.3	+	9	1706	c.1634C>T	c.(1633-1635)cCc>cTc	p.P545L	SEC23IP_ENST00000543134.1_Missense_Mutation_p.P334L	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	545					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P545L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TATAACAGCCCCACCTACTGT	0.368																																						uc001leu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1633-1635)CCC>CTC		Sec23-interacting protein p125							68.0	71.0	70.0					10																	121677437		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121677437C>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1634C>T	10.37:g.121677437C>T	ENSP00000358071:p.Pro545Leu					SEC23IP_uc010qtc.1_Missense_Mutation_p.P334L|SEC23IP_uc009xzk.1_5'Flank	p.P545L	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	9	1706	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	545					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.1634C>T	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452130	0.96223	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.62639	0.01;0.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85801	0.5781	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.89160	0.3529	10	0.87932	D	0	-15.2736	19.7654	0.96337	0.0:1.0:0.0:0.0	.	334;545	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	L	545;334	ENSP00000358071:P545L;ENSP00000438773:P334L	ENSP00000358071:P545L	P	+	2	0	SEC23IP	121667427	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.598000	0.82745	2.750000	0.94351	0.655000	0.94253	CCC		PASS	0.368	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			20	124	20	124	---	---	---	---
INPP5A	3632	broad.mit.edu	37	10	134579283	134579283	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr10:134579283G>C	ENST00000368594.3	+	12	1187	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	INPP5A_ENST00000368593.3_Missense_Mutation_p.E304Q	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	304					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.E304Q(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TTAGCTCTTGGAGTTTGACAA	0.488																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(910-912)GAG>CAG		inositol polyphosphate-5-phosphatase A							170.0	173.0	172.0					10																	134579283		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134579283G>C	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.910G>C	10.37:g.134579283G>C	ENSP00000357583:p.Glu304Gln					INPP5A_uc001llo.1_Missense_Mutation_p.E304Q|INPP5A_uc001llq.2_Missense_Mutation_p.E199Q	p.E304Q	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	12	1158	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	304					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.910G>C	CCDS7669.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.673|4.673	0.125090|0.125090	0.08931|0.08931	.|.	.|.	ENSG00000068383|ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000432898|ENST00000342652	T;T|.	0.80909|.	-1.43;-1.43|.	4.25|4.25	4.25|4.25	0.50352|0.50352	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);|.	0.050466|.	0.85682|.	D|.	0.000000|.	T|T	0.58221|0.58221	0.2107|0.2107	L|L	0.39020|0.39020	1.185|1.185	0.48975|0.48975	D|D	0.999739|0.999739	B;D;D|.	0.89917|.	0.383;1.0;0.997|.	B;D;D|.	0.87578|.	0.155;0.998;0.995|.	T|T	0.55891|0.55891	-0.8069|-0.8069	10|5	0.26408|.	T|.	0.33|.	-20.0878|-20.0878	15.8293|15.8293	0.78739|0.78739	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	247;304;304|.	F5GWM1;Q14642;Q5T1B5|.	.;I5P1_HUMAN;.|.	Q|A	304;304;247;221|218	ENSP00000357583:E304Q;ENSP00000357582:E304Q|.	ENSP00000357582:E304Q|.	E|G	+|+	1|2	0|0	INPP5A|INPP5A	134429273|134429273	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.038000|7.038000	0.76537|0.76537	2.080000|2.080000	0.62538|0.62538	0.650000|0.650000	0.86243|0.86243	GAG|GGA		PASS	0.488	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		20	146	20	146	---	---	---	---
RBMXL2	27288	broad.mit.edu	37	11	7110612	7110612	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:7110612G>C	ENST00000306904.5	+	1	448	c.261G>C	c.(259-261)ccG>ccC	p.P87P		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	87						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P87P(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCACCAAACCGGCGTTCGAGA	0.726																																						uc001mfc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)CCG>CCC		testes-specific heterogenous nuclear							12.0	12.0	12.0					11																	7110612		2179	4283	6462	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110612G>C	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.261G>C	11.37:g.7110612G>C							p.P87P	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	448	+			87					Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.261G>C	CCDS7777.1																																																																																				PASS	0.726	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		4	16	4	16	---	---	---	---
C11orf16	56673	broad.mit.edu	37	11	8948644	8948644	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:8948644C>G	ENST00000326053.5	-	4	508	c.402G>C	c.(400-402)caG>caC	p.Q134H	C11orf16_ENST00000525780.1_Missense_Mutation_p.Q134H|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	134								p.Q134H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGACCACTCTCTGCTGCTGGG	0.557																																						uc001mhb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(400-402)CAG>CAC		hypothetical protein LOC56673							68.0	57.0	61.0					11																	8948644		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8948644C>G	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.402G>C	11.37:g.8948644C>G	ENSP00000318999:p.Gln134His					C11orf16_uc001mhc.3_Missense_Mutation_p.Q134H	p.Q134H	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	4	526	-			134					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.402G>C	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.798968	0.16397	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.23147	1.92;1.92	5.62	3.65	0.41850	.	0.702903	0.13007	N	0.421144	T	0.24160	0.0585	L	0.60455	1.87	0.09310	N	0.999998	B;B	0.27140	0.169;0.047	B;B	0.28553	0.091;0.032	T	0.33033	-0.9884	10	0.62326	D	0.03	-24.7066	3.9954	0.09556	0.1329:0.5696:0.1774:0.1201	.	134;134	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	H	134	ENSP00000436818:Q134H;ENSP00000318999:Q134H	ENSP00000318999:Q134H	Q	-	3	2	C11orf16	8905220	0.249000	0.23941	0.075000	0.20258	0.357000	0.29423	0.354000	0.20146	0.638000	0.30545	0.591000	0.81541	CAG		PASS	0.557	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		13	44	13	44	---	---	---	---
MICAL2	9645	broad.mit.edu	37	11	12225953	12225953	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:12225953G>A	ENST00000256194.4	+	4	709	c.421G>A	c.(421-423)Gga>Aga	p.G141R	MICAL2_ENST00000379612.3_Missense_Mutation_p.G141R|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000342902.5_Missense_Mutation_p.G141R|MICAL2_ENST00000527546.1_Missense_Mutation_p.G141R|MICAL2_ENST00000537344.1_Missense_Mutation_p.G141R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	141	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.G141R(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCGTGGCCTGGGAGCCAAGAA	0.557																																						uc001mjz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)	2						c.(421-423)GGA>AGA		microtubule associated monoxygenase, calponin							111.0	98.0	102.0					11																	12225953		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12225953G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.421G>A	11.37:g.12225953G>A	ENSP00000256194:p.Gly141Arg					MICAL2_uc010rch.1_Missense_Mutation_p.G141R|MICAL2_uc001mjy.2_Missense_Mutation_p.G141R|MICAL2_uc001mka.2_Missense_Mutation_p.G141R|MICAL2_uc010rci.1_Missense_Mutation_p.G141R|MICAL2_uc001mkb.2_Missense_Mutation_p.G141R|MICAL2_uc001mkc.2_Missense_Mutation_p.G141R	p.G141R	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	4	709	+			141					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.421G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449997	0.96205	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2;-4.2	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.98232	0.9415	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98281	1.0508	9	.	.	.	.	19.4289	0.94756	0.0:0.0:1.0:0.0	.	141;141;141;141;141;141	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	R	141	ENSP00000441689:G141R;ENSP00000256194:G141R;ENSP00000433965:G141R;ENSP00000344894:G141R;ENSP00000368932:G141R	.	G	+	1	0	MICAL2	12182529	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.835000	0.99442	2.700000	0.92200	0.563000	0.77884	GGA		PASS	0.557	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		33	125	33	125	---	---	---	---
CTC-497E21.3	0	broad.mit.edu	37	11	13031130	13031130	+	lincRNA	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:13031130C>T	ENST00000533002.1	-	0	0																											CGCCATGGATCCTTCGGAAAA	0.637																																						uc001mkn.1																			0					0						c.(331-333)CCT>TCT		Ras association (RalGDS/AF-6) domain family							17.0	22.0	20.0					11																	13031130		2011	4165	6176			644943				signal transduction			g.chr11:13031130C>T																													11.37:g.13031130C>T							p.P111S	NM_001080521	NP_001073990	A6NK89	RASFA_HUMAN		Epithelial(150;0.00399)	2	331	+			3						Missense_Mutation	SNP	ENST00000533002.1	37	c.331C>T																																																																																					PASS	0.637	CTC-497E21.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000387000.1			12	41	12	41	---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17552952	17552952	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:17552952C>A	ENST00000318024.4	-	3	350	c.242G>T	c.(241-243)cGc>cTc	p.R81L	USH1C_ENST00000527020.1_Missense_Mutation_p.R81L|USH1C_ENST00000527720.1_Missense_Mutation_p.R50L|USH1C_ENST00000005226.7_Missense_Mutation_p.R81L	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	81	N-terminal domain.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.R81L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCACCTGGAGCGCCGGGGGGT	0.627																																						uc001mnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)CGC>CTC		harmonin isoform a							30.0	29.0	30.0					11																	17552952		2200	4292	6492	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17552952C>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.242G>T	11.37:g.17552952C>A	ENSP00000317018:p.Arg81Leu					USH1C_uc001mne.2_Missense_Mutation_p.R81L|USH1C_uc009yhb.2_Missense_Mutation_p.R81L|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.R45L	p.R81L	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			3	351	-			81					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.242G>T	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	35	5.486312	0.96323	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.69	5.69	0.88448	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.41236	1.265	0.80722	D	1	D;D;D	0.76494	0.988;0.975;0.999	P;B;D	0.72075	0.58;0.303;0.976	T	0.00899	-1.1522	10	0.45353	T	0.12	.	18.5767	0.91157	0.0:1.0:0.0:0.0	.	81;81;81	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	L	81;50;81;81;92	ENSP00000317018:R81L;ENSP00000432944:R50L;ENSP00000436934:R81L;ENSP00000005226:R81L;ENSP00000437128:R92L	ENSP00000005226:R81L	R	-	2	0	USH1C	17509528	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.195000	0.51013	2.688000	0.91661	0.561000	0.74099	CGC		PASS	0.627	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		8	16	8	16	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20070277	20070277	+	Silent	SNP	C	C	T	rs140548628	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:20070277C>T	ENST00000396087.3	+	16	4074	c.3975C>T	c.(3973-3975)ctC>ctT	p.L1325L	NAV2_ENST00000349880.4_Silent_p.L1302L|NAV2_ENST00000311043.8_Silent_p.L388L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000533917.1_Silent_p.L388L|NAV2_ENST00000540292.1_Silent_p.L1256L|NAV2_ENST00000527559.2_Silent_p.L1254L|NAV2_ENST00000396085.1_Silent_p.L1302L|NAV2_ENST00000360655.4_Silent_p.L1238L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1325					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.L1325L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TTCACAGACTCTTTGGTGGGA	0.512																																						uc010rdm.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(3973-3975)CTC>CTT		neuron navigator 2 isoform 2		C	,,,	0,4406		0,0,2203	70.0	66.0	68.0		3714,1164,3906,3906	4.0	1.0	11	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	1238/2366,388/1494,1302/2430,1302/2433	20070277	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20070277C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3975C>T	11.37:g.20070277C>T						NAV2_uc001mpp.2_Silent_p.L1238L|NAV2_uc001mpr.3_Silent_p.L1302L|NAV2_uc001mpt.2_Silent_p.L388L|NAV2_uc009yhx.2_Silent_p.L388L|NAV2_uc009yhy.1_Silent_p.L301L|NAV2_uc009yhz.2_5'UTR	p.L1325L	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			16	4336	+			1325					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.3975C>T	CCDS58126.1																																																																																				PASS	0.512	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		20	48	20	48	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22399221	22399221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:22399221G>T	ENST00000263160.3	+	12	2121	c.1684G>T	c.(1684-1686)Gag>Tag	p.E562*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	562					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.E562*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAAAAGAAAGAGGAATTTGT	0.368																																						uc001mqk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1684-1686)GAG>TAG		solute carrier family 17 (sodium-dependent							43.0	44.0	44.0					11																	22399221		2203	4300	6503	SO:0001587	stop_gained	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22399221G>T	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1684G>T	11.37:g.22399221G>T	ENSP00000263160:p.Glu562*						p.E562*	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			12	2097	+			562			Cytoplasmic (Potential).		A6NKS2	Nonsense_Mutation	SNP	ENST00000263160.3	37	c.1684G>T	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	41	8.582851	0.98872	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.1588	0.98128	0.0:0.0:1.0:0.0	.	.	.	.	X	562;450	.	ENSP00000263160:E562X	E	+	1	0	SLC17A6	22355797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.209000	0.95087	2.770000	0.95276	0.563000	0.77884	GAG		PASS	0.368	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		15	58	15	58	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46811703	46811703	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:46811703G>A	ENST00000529230.1	-	15	1844	c.1798C>T	c.(1798-1800)Ctt>Ttt	p.L600F	CKAP5_ENST00000354558.3_Missense_Mutation_p.L600F|CKAP5_ENST00000415402.1_Missense_Mutation_p.L600F|CKAP5_ENST00000312055.5_Missense_Mutation_p.L600F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	600					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.L600F(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTAGGGGGAAGAACAGCTGAA	0.393																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1798-1800)CTT>TTT		colonic and hepatic tumor over-expressed protein							84.0	80.0	82.0					11																	46811703		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46811703G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1798C>T	11.37:g.46811703G>A	ENSP00000432768:p.Leu600Phe					CKAP5_uc009ylg.1_Missense_Mutation_p.L486F|CKAP5_uc001ndj.1_Missense_Mutation_p.L600F	p.L600F	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			15	1908	-			600					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.1798C>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445284	0.83993	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.50277	0.75;0.75;0.76;0.76	5.35	5.35	0.76521	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	L	0.58302	1.8	0.80722	D	1	B;D;P	0.76494	0.015;0.999;0.7	B;D;B	0.83275	0.007;0.996;0.358	T	0.63910	-0.6530	10	0.39692	T	0.17	-5.3328	19.071	0.93136	0.0:0.0:1.0:0.0	.	600;600;600	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	F	600	ENSP00000432768:L600F;ENSP00000395302:L600F;ENSP00000310227:L600F;ENSP00000346566:L600F	ENSP00000310227:L600F	L	-	1	0	CKAP5	46768279	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.864000	0.99589	2.515000	0.84797	0.650000	0.86243	CTT		PASS	0.393	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		26	103	26	103	---	---	---	---
NR1H3	10062	broad.mit.edu	37	11	47282842	47282842	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:47282842G>C	ENST00000467728.1	+	4	1788	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	NR1H3_ENST00000395397.3_Missense_Mutation_p.E139Q|NR1H3_ENST00000405853.3_Missense_Mutation_p.E184Q|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Missense_Mutation_p.E139Q|NR1H3_ENST00000441012.2_Missense_Mutation_p.E184Q|NR1H3_ENST00000481889.2_Missense_Mutation_p.E139Q|NR1H3_ENST00000527949.1_Missense_Mutation_p.E93Q|NR1H3_ENST00000407404.1_Missense_Mutation_p.E184Q			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	184					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E184Q(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCGGCAAGAGGAGGAACAGGC	0.577																																						uc009ylm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(550-552)GAG>CAG		nuclear receptor subfamily 1, group H, member 3							65.0	64.0	64.0					11																	47282842		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282842G>C	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.550G>C	11.37:g.47282842G>C	ENSP00000420656:p.Glu184Gln					NR1H3_uc009yll.1_Missense_Mutation_p.E190Q|NR1H3_uc010rhk.1_Missense_Mutation_p.E190Q|NR1H3_uc001nek.2_Missense_Mutation_p.E139Q|NR1H3_uc001nej.2_Missense_Mutation_p.E184Q|NR1H3_uc001nel.2_Missense_Mutation_p.E139Q|NR1H3_uc001nen.3_Missense_Mutation_p.E184Q|NR1H3_uc001nem.2_Missense_Mutation_p.E184Q|NR1H3_uc001nep.2_Missense_Mutation_p.E93Q	p.E184Q	NM_005693	NP_005684	Q13133	NR1H3_HUMAN			5	771	+			184					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.550G>C	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483175	0.63962	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000531660;ENST00000407404;ENST00000444396;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;D;T;D;D;D;D;D;D;D;D	0.94232	-2.9;-3.18;-3.03;-2.48;0.65;-3.22;-2.61;-2.49;-2.93;-2.48;-2.93;-3.22;-3.38	5.33	5.33	0.75918	Zinc finger, NHR/GATA-type (1);	0.052414	0.85682	D	0.000000	D	0.87208	0.6120	N	0.25144	0.715	0.33013	D	0.527829	B;B;B;B;B	0.25563	0.007;0.009;0.047;0.129;0.046	B;B;B;B;B	0.21708	0.004;0.024;0.024;0.028;0.036	T	0.80042	-0.1548	10	0.02654	T	1	.	19.9233	0.97095	0.0:0.0:1.0:0.0	.	190;139;184;139;184	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	Q	139;139;139;184;50;184;184;184;184;184;184;184;93	ENSP00000378793:E139Q;ENSP00000385073:E139Q;ENSP00000433271:E139Q;ENSP00000403798:E184Q;ENSP00000434650:E50Q;ENSP00000385801:E184Q;ENSP00000391005:E184Q;ENSP00000415591:E184Q;ENSP00000387946:E184Q;ENSP00000403696:E184Q;ENSP00000420656:E184Q;ENSP00000384745:E184Q;ENSP00000432073:E93Q	ENSP00000378793:E139Q	E	+	1	0	NR1H3	47239418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.375000	0.97178	2.871000	0.98454	0.655000	0.94253	GAG		PASS	0.577	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			6	103	6	103	---	---	---	---
PSMC3	5702	broad.mit.edu	37	11	47446672	47446672	+	Splice_Site	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:47446672C>A	ENST00000298852.3	-	3	442	c.285G>T	c.(283-285)gaG>gaT	p.E95D	PSMC3_ENST00000602866.1_Splice_Site_p.E79D|PSMC3_ENST00000530912.1_Intron	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	95					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E95D(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACACACACACCTCGATGACGT	0.532																																						uc001nfh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(283-285)GAG>GAT		proteasome 26S ATPase subunit 3							220.0	177.0	192.0					11																	47446672		2201	4298	6499	SO:0001630	splice_region_variant	5702				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47446672C>A	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.285+1G>T	11.37:g.47446672C>A						PSMC3_uc009ylr.1_Intron	p.E95D	NM_002804	NP_002795	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	479	-			95					B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	c.285G>T	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	C	36	5.914161	0.97099	.	.	ENSG00000165916	ENST00000298852;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906;ENST00000526993;ENST00000531653;ENST00000528362	D	0.95272	-3.66	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	M	0.83118	2.625	0.80722	D	1	D	0.63046	0.992	P	0.58013	0.831	D	0.96757	0.9558	9	.	.	.	-38.783	19.1602	0.93527	0.0:1.0:0.0:0.0	.	95	P17980	PRS6A_HUMAN	D	95;60;60;60;60;60;103;79;79	ENSP00000298852:E95D	.	E	-	3	2	PSMC3	47403248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.532000	0.85374	0.555000	0.69702	GAG		PASS	0.532	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804	Missense_Mutation	34	140	34	140	---	---	---	---
CELF1	10658	broad.mit.edu	37	11	47510421	47510421	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:47510421C>G	ENST00000358597.3	-	1	145	c.146G>C	c.(145-147)aGg>aCg	p.R49T	AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000532048.1_Missense_Mutation_p.R76T|CELF1_ENST00000395292.2_Missense_Mutation_p.R49T|CELF1_ENST00000361904.3_Missense_Mutation_p.R49T|CELF1_ENST00000395290.2_Missense_Mutation_p.R49T|CELF1_ENST00000310513.5_Missense_Mutation_p.R49T|CELF1_ENST00000531165.1_Missense_Mutation_p.R76T			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	49	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)	p.R49M(1)|p.R49T(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GCTCCTATCCCTTAGGACGTT	0.483																																					Pancreas(163;1949 1966 9906 43218 43785)	uc001nfl.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(145-147)AGG>ACG		CUG triplet repeat, RNA-binding protein 1							160.0	163.0	162.0					11																	47510421		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47510421C>G	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.146G>C	11.37:g.47510421C>G	ENSP00000351409:p.Arg49Thr					CELF1_uc001nfm.2_Missense_Mutation_p.R49T|CELF1_uc001nfn.2_Missense_Mutation_p.R49T|CELF1_uc001nfo.1_Missense_Mutation_p.R76T|CELF1_uc010rhm.1_Missense_Mutation_p.R49T|CELF1_uc001nfp.2_Missense_Mutation_p.R76T|CELF1_uc001nfq.1_Missense_Mutation_p.R49T|CELF1_uc001nfr.1_Missense_Mutation_p.R49T	p.R49T	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN			1	156	-			49			RRM 1.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.146G>C	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297741	0.95574	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048;ENST00000530151;ENST00000528434;ENST00000525841;ENST00000543178;ENST00000535982;ENST00000526419	T;T;T;T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;1.19;1.19;1.19;1.19;1.19;1.19;-0.96;1.19;-0.96;-0.96;1.19;1.19	5.69	5.69	0.88448	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	L	0.53617	1.68	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.996;0.987;0.987;0.996;0.99	D;D;D;D;D;D	0.79108	0.992;0.975;0.951;0.951;0.98;0.971	D	0.85204	0.1017	10	0.87932	D	0	-16.3325	19.8026	0.96515	0.0:1.0:0.0:0.0	.	49;76;76;49;49;49	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	T	49;49;49;49;49;76;76;49;76;49;49;76;49	ENSP00000378705:R49T;ENSP00000351409:R49T;ENSP00000378706:R49T;ENSP00000308386:R49T;ENSP00000354639:R49T;ENSP00000436864:R76T;ENSP00000435926:R76T;ENSP00000433986:R49T;ENSP00000435320:R76T;ENSP00000436191:R49T;ENSP00000444825:R49T;ENSP00000438044:R76T;ENSP00000435423:R49T	ENSP00000308386:R49T	R	-	2	0	CELF1	47466997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.687000	0.91594	0.561000	0.74099	AGG		PASS	0.483	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		44	294	44	294	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587932	55587932	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:55587932C>G	ENST00000333976.4	+	1	847	c.827C>G	c.(826-828)tCt>tGt	p.S276C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S276C(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AAAGTGGCCTCTGTGTTTTAC	0.493																																						uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(826-828)TCT>TGT		olfactory receptor, family 5, subfamily D,							90.0	88.0	88.0					11																	55587932		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587932C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.827C>G	11.37:g.55587932C>G	ENSP00000335025:p.Ser276Cys						p.S276C	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	827	+		all_epithelial(135;0.208)	276			Helical; Name=7; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.827C>G	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.343826	0.41498	.	.	ENSG00000186119	ENST00000333976	T	0.00277	8.34	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38720	N	0.001597	T	0.00695	0.0023	M	0.93328	3.405	0.25436	N	0.988137	P	0.44429	0.835	P	0.50934	0.654	T	0.09930	-1.0652	10	0.87932	D	0	-40.4071	14.1852	0.65601	0.0:0.8492:0.1508:0.0	.	276	Q8NGL1	OR5DI_HUMAN	C	276	ENSP00000335025:S276C	ENSP00000335025:S276C	S	+	2	0	OR5D18	55344508	0.004000	0.15560	1.000000	0.80357	0.487000	0.33371	1.421000	0.34815	2.583000	0.87209	0.573000	0.79308	TCT		PASS	0.493	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		34	111	34	111	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703748	55703748	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:55703748C>T	ENST00000301532.3	-	1	128	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	43					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G43G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATCCAATGTTCCCTATCAGAA	0.393																																						uc010ris.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(127-129)GGG>GGA		olfactory receptor, family 5, subfamily I,							69.0	67.0	68.0					11																	55703748		2201	4295	6496	SO:0001819	synonymous_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703748C>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.129G>A	11.37:g.55703748C>T							p.G43G	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	129	-			43			Helical; Name=1; (Potential).		Q6IEU4	Silent	SNP	ENST00000301532.3	37	c.129G>A	CCDS7949.1																																																																																				PASS	0.393	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		21	89	21	89	---	---	---	---
OR8K5	219453	broad.mit.edu	37	11	55927259	55927259	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:55927259A>T	ENST00000313447.1	-	1	534	c.535T>A	c.(535-537)Tgt>Agt	p.C179S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C179S(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ACATCATCACAGTAAAAATGA	0.358																																						uc010rja.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(535-537)TGT>AGT		olfactory receptor, family 8, subfamily K,							93.0	94.0	94.0					11																	55927259		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927259A>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.535T>A	11.37:g.55927259A>T	ENSP00000323853:p.Cys179Ser						p.C179S	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	535	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	179			Extracellular (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.535T>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095910	0.76870	.	.	ENSG00000181752	ENST00000313447	T	0.62364	0.03	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	D	0.85401	0.5688	H	0.97783	4.075	0.43426	D	0.99558	D	0.76494	0.999	D	0.70935	0.971	D	0.90275	0.4310	10	0.87932	D	0	.	12.8688	0.57953	1.0:0.0:0.0:0.0	.	179	Q8NH50	OR8K5_HUMAN	S	179	ENSP00000323853:C179S	ENSP00000323853:C179S	C	-	1	0	OR8K5	55683835	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.224000	0.72265	1.866000	0.54105	0.457000	0.33378	TGT		PASS	0.358	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		21	102	21	102	---	---	---	---
HRASLS5	117245	broad.mit.edu	37	11	63257743	63257743	+	Silent	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:63257743A>G	ENST00000301790.4	-	2	400	c.241T>C	c.(241-243)Tta>Cta	p.L81L	HRASLS5_ENST00000540857.1_Silent_p.L71L|HRASLS5_ENST00000539221.1_Silent_p.L81L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	81							transferase activity, transferring acyl groups (GO:0016746)	p.L81L(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CCCTGTTCTAATGTGCCCGGC	0.493																																						uc001nwy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(241-243)TTA>CTA		HRAS-like suppressor family, member 5 isoform 1							192.0	217.0	209.0					11																	63257743		2201	4298	6499	SO:0001819	synonymous_variant	117245							g.chr11:63257743A>G	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.241T>C	11.37:g.63257743A>G						HRASLS5_uc001nwz.2_Silent_p.L71L|HRASLS5_uc010rmq.1_Silent_p.L81L|HRASLS5_uc009yos.2_RNA	p.L81L	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN			2	415	-			81					B7X6T1|F5GZ87|F5H4Y9	Silent	SNP	ENST00000301790.4	37	c.241T>C	CCDS8044.1																																																																																				PASS	0.493	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		172	665	172	665	---	---	---	---
MACROD1	28992	broad.mit.edu	37	11	63919774	63919774	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:63919774C>G	ENST00000255681.6	-	2	456	c.390G>C	c.(388-390)gaG>gaC	p.E130D	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	130					cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.E130D(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CTTTCGCCATCTCCTTCCATG	0.582																																						uc001nyh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)GAG>GAC		MACRO domain containing 1							135.0	129.0	131.0					11																	63919774		2201	4297	6498	SO:0001583	missense	28992							g.chr11:63919774C>G	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.390G>C	11.37:g.63919774C>G	ENSP00000255681:p.Glu130Asp						p.E130D	NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN			2	509	-			130					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.390G>C	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257766	0.39896	.	.	ENSG00000133315	ENST00000255681	T	0.23147	1.92	4.38	3.45	0.39498	.	0.301525	0.30210	N	0.010158	T	0.16811	0.0404	N	0.21583	0.68	0.30071	N	0.810011	B	0.02656	0.0	B	0.01281	0.0	T	0.08785	-1.0705	10	0.46703	T	0.11	-34.1635	10.1809	0.42968	0.0:0.9021:0.0:0.0979	.	130	Q9BQ69	MACD1_HUMAN	D	130	ENSP00000255681:E130D	ENSP00000255681:E130D	E	-	3	2	MACROD1	63676350	0.669000	0.27502	0.917000	0.36280	0.923000	0.55619	0.757000	0.26433	0.965000	0.38133	0.462000	0.41574	GAG		PASS	0.582	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		51	310	51	310	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64533522	64533522	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:64533522T>C	ENST00000377390.3	-	13	2025	c.1688A>G	c.(1687-1689)aAc>aGc	p.N563S	SF1_ENST00000433274.2_Missense_Mutation_p.N537S|SF1_ENST00000377394.3_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.N563S|SF1_ENST00000422298.2_Intron|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377387.1_Intron|SF1_ENST00000227503.9_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	563	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.N563S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CATAGTGGGGTTGCCTTGCAT	0.716																																						uc001obb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1687-1689)AAC>AGC		splicing factor 1 isoform 1							25.0	31.0	29.0					11																	64533522		2161	4264	6425	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64533522T>C	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1688A>G	11.37:g.64533522T>C	ENSP00000366607:p.Asn563Ser					SF1_uc010rnm.1_Intron|SF1_uc010rnn.1_Missense_Mutation_p.N537S|SF1_uc001oaz.1_Intron|SF1_uc001oba.1_Missense_Mutation_p.N563S|SF1_uc001obc.1_Intron|SF1_uc001obd.1_Intron|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron	p.N563S	NM_004630	NP_004621	Q15637	SF01_HUMAN			13	2065	-			563			Pro-rich.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.1688A>G	CCDS31599.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.17|12.17	1.857116|1.857116	0.32791|0.32791	.|.	.|.	ENSG00000168066|ENSG00000168066	ENST00000377390;ENST00000334944;ENST00000433274|ENST00000413725	T;T;T|.	0.41065|.	1.01;1.09;1.01|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	T|T	0.37865|0.37865	0.1019|0.1019	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B|.	0.19073|.	0.019;0.033|.	B;B|.	0.19148|.	0.011;0.024|.	T|T	0.25257|0.25257	-1.0137|-1.0137	9|5	0.35671|.	T|.	0.21|.	.|.	8.6497|8.6497	0.34027|0.34027	0.1704:0.0:0.0:0.8296|0.1704:0.0:0.0:0.8296	.|.	563;563|.	Q15637;Q15637-2|.	SF01_HUMAN;.|.	S|A	563;563;537|133	ENSP00000366607:N563S;ENSP00000334414:N563S;ENSP00000396793:N537S|.	ENSP00000334414:N563S|.	N|T	-|-	2|1	0|0	SF1|SF1	64290098|64290098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.678000|1.678000	0.37586|0.37586	2.013000|2.013000	0.59113|0.59113	0.459000|0.459000	0.35465|0.35465	AAC|ACC		PASS	0.716	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		3	66	3	66	---	---	---	---
TIGD3	220359	broad.mit.edu	37	11	65124249	65124249	+	Missense_Mutation	SNP	G	G	A	rs150239664		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:65124249G>A	ENST00000309880.5	+	2	1177	c.970G>A	c.(970-972)Gat>Aat	p.D324N		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	324	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D324N(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AAGCGAGAGGGATGGCACCTC	0.662																																						uc001odo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)GAT>AAT		tigger transposable element derived 3							16.0	19.0	18.0					11																	65124249		2193	4278	6471	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124249G>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.970G>A	11.37:g.65124249G>A	ENSP00000308354:p.Asp324Asn						p.D324N	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	1133	+			324			DDE.			Missense_Mutation	SNP	ENST00000309880.5	37	c.970G>A	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031429	0.54790	.	.	ENSG00000173825	ENST00000309880	T	0.43294	0.95	3.42	2.47	0.30058	.	.	.	.	.	T	0.27241	0.0668	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.19391	0.025	T	0.20940	-1.0260	9	0.24483	T	0.36	0.0468	8.5706	0.33567	0.0:0.2381:0.7619:0.0	.	324	Q6B0B8	TIGD3_HUMAN	N	324	ENSP00000308354:D324N	ENSP00000308354:D324N	D	+	1	0	TIGD3	64880825	0.000000	0.05858	0.010000	0.14722	0.706000	0.40770	-0.040000	0.12104	0.769000	0.33313	0.456000	0.33151	GAT		PASS	0.662	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		15	64	15	64	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65385808	65385808	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:65385808C>T	ENST00000355703.3	+	6	1514	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	325						integral component of membrane (GO:0016021)		p.S206S(2)|p.S325S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						ATCTGGACAGCCCCCCAGGGG	0.647																																						uc001oey.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(973-975)AGC>AGT		pecanex-like 3																																				SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65385808C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.975C>T	11.37:g.65385808C>T							p.S325S	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			6	975	+			325					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.975C>T	CCDS44650.1																																																																																				PASS	0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		26	99	26	99	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65403086	65403086	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:65403086C>T	ENST00000355703.3	+	32	5810	c.5271C>T	c.(5269-5271)agC>agT	p.S1757S	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1757						integral component of membrane (GO:0016021)		p.S1757S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCGTGGCAGCATCCAGAACG	0.662																																						uc001oey.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(5269-5271)AGC>AGT		pecanex-like 3							24.0	31.0	29.0					11																	65403086		2167	4253	6420	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65403086C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5271C>T	11.37:g.65403086C>T						PCNXL3_uc001oez.2_Silent_p.S644S	p.S1757S	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			32	5271	+			1757					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.5271C>T	CCDS44650.1																																																																																				PASS	0.662	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		17	55	17	55	---	---	---	---
CTSF	8722	broad.mit.edu	37	11	66328210	66328210	+	IGR	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:66328210A>G	ENST00000310325.5	-	0	2035				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGGACATCAACACCAAGTGG	0.582																																						uc001oio.1																			0					0						c.(1843-1845)AAC>AGC		actinin, alpha 3							132.0	141.0	138.0					11																	66328210		2148	4238	6386	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66328210A>G	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66328210A>G						ACTN3_uc010rpi.1_RNA	p.N615S	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			16	1862	+			615			Spectrin 3.		B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.1844A>G	CCDS8144.1																																																																																				PASS	0.582	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		56	248	56	248	---	---	---	---
CORO1B	57175	broad.mit.edu	37	11	67207901	67207901	+	Missense_Mutation	SNP	C	C	G	rs149251927		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:67207901C>G	ENST00000341356.5	-	7	876	c.766G>C	c.(766-768)Gag>Cag	p.E256Q	CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000393893.1_Missense_Mutation_p.E256Q|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	256					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)	p.E256Q(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATGGGTTCCTCGAGGTTTTCC	0.622																																						uc001olj.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(766-768)GAG>CAG		coronin, actin binding protein, 1B							82.0	73.0	76.0					11																	67207901		2200	4295	6495	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67207901C>G	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.766G>C	11.37:g.67207901C>G	ENSP00000340211:p.Glu256Gln					PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.E256Q|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.E256Q	p.E256Q	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		6	802	-			256			WD 4.		B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.766G>C	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548721	0.27652	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.01335	5.0;5.0	4.49	1.48	0.22813	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.601209	0.14959	N	0.288458	T	0.01765	0.0056	L	0.45581	1.43	0.27396	N	0.955004	B	0.11235	0.004	B	0.11329	0.006	T	0.38693	-0.9649	10	0.32370	T	0.25	-13.3613	9.4688	0.38829	0.0:0.6537:0.2702:0.0761	.	256	Q9BR76	COR1B_HUMAN	Q	256	ENSP00000377471:E256Q;ENSP00000340211:E256Q	ENSP00000340211:E256Q	E	-	1	0	CORO1B	66964477	0.689000	0.27690	0.247000	0.24249	0.910000	0.53928	3.047000	0.49854	0.217000	0.20800	0.591000	0.81541	GAG		PASS	0.622	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		23	102	23	102	---	---	---	---
ANO1	55107	broad.mit.edu	37	11	70009404	70009404	+	Silent	SNP	G	G	A	rs375335468	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:70009404G>A	ENST00000355303.5	+	19	2213	c.1908G>A	c.(1906-1908)ccG>ccA	p.P636P	ANO1_ENST00000530676.1_Silent_p.P490P|ANO1_ENST00000538023.1_Silent_p.P636P|ANO1_ENST00000398543.2_Silent_p.P490P|ANO1_ENST00000531349.1_Silent_p.P345P|ANO1_ENST00000316296.5_Silent_p.P578P	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	636					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.P636P(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TTGGACGCCCGGGCGACTACG	0.532													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16809	0.0		0.0	False		,,,				2504	0.001					uc001opj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1906-1908)CCG>CCA		anoctamin 1, calcium activated chloride channel		G		5,3869		0,5,1932	61.0	64.0	63.0		1908	-10.2	0.0	11		63	0,8252		0,0,4126	no	coding-synonymous	ANO1	NM_018043.5		0,5,6058	AA,AG,GG		0.0,0.1291,0.0412		636/987	70009404	5,12121	1937	4126	6063	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70009404G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1908G>A	11.37:g.70009404G>A						ANO1_uc001opk.1_Silent_p.P578P|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.P345P	p.P636P	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			19	2213	+			636			Extracellular (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.1908G>A	CCDS44663.1																																																																																				PASS	0.532	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		5	68	5	68	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71724415	71724415	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:71724415C>T	ENST00000393695.3	-	15	4465	c.4134G>A	c.(4132-4134)gaG>gaA	p.E1378E	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.E1378E	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.E1378E(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGTGGCGTTTCTCGGCAGCGG	0.687			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(4132-4134)GAG>GAA		nuclear mitotic apparatus protein 1							15.0	15.0	15.0					11																	71724415		2185	4263	6448	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724415C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4134G>A	11.37:g.71724415C>T						NUMA1_uc009ysw.1_Silent_p.E941E|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.E1378E|NUMA1_uc001orn.2_Silent_p.E941E|NUMA1_uc009ysx.1_Silent_p.E1378E|NUMA1_uc001oro.1_Silent_p.E1378E	p.E1378E	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	4306	-			1378			Potential.			Silent	SNP	ENST00000393695.3	37	c.4134G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	0.852	-0.738314	0.03111	.	.	ENSG00000137497	ENST00000541584	.	.	.	5.14	2.27	0.28462	.	.	.	.	.	T	0.51278	0.1665	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38112	-0.9676	4	.	.	.	.	4.459	0.11657	0.1496:0.546:0.0:0.3044	.	.	.	.	K	223	.	.	R	-	2	0	NUMA1	71402063	1.000000	0.71417	0.984000	0.44739	0.462000	0.32619	0.714000	0.25808	0.337000	0.23665	-0.136000	0.14681	AGA		PASS	0.687	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			11	36	11	36	---	---	---	---
SLCO2B1	11309	broad.mit.edu	37	11	74913991	74913991	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:74913991C>T	ENST00000289575.5	+	12	2204	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	SLCO2B1_ENST00000428359.2_Silent_p.F581F|SLCO2B1_ENST00000532236.1_Silent_p.F487F|SLCO2B1_ENST00000454962.2_Silent_p.F376F|SLCO2B1_ENST00000531756.1_Silent_p.F348F|SLCO2B1_ENST00000341411.4_Silent_p.F376F|SLCO2B1_ENST00000525650.1_Silent_p.F459F	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	603					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.F603F(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GCATCCAGTTCATGTTCCTGA	0.547																																						uc001owb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1807-1809)TTC>TTT		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						255.0	239.0	244.0					11																	74913991		2200	4293	6493	SO:0001819	synonymous_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74913991C>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1809C>T	11.37:g.74913991C>T						SLCO2B1_uc010rrq.1_Silent_p.F348F|SLCO2B1_uc010rrr.1_Silent_p.F459F|SLCO2B1_uc010rrs.1_Silent_p.F487F|SLCO2B1_uc001owc.2_Silent_p.F376F|SLCO2B1_uc001owd.2_Silent_p.F581F	p.F603F	NM_007256	NP_009187	O94956	SO2B1_HUMAN			12	2196	+			603			Helical; Name=11; (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	c.1809C>T	CCDS8235.1																																																																																				PASS	0.547	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		53	229	53	229	---	---	---	---
MOGAT2	80168	broad.mit.edu	37	11	75438510	75438510	+	Silent	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:75438510C>A	ENST00000198801.5	+	3	371	c.301C>A	c.(301-303)Cgg>Agg	p.R101R	MOGAT2_ENST00000526712.1_Silent_p.R19R	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	101					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.R101R(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGACCCCTCTCGGAACTACAT	0.627																																						uc010rru.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(301-303)CGG>AGG		monoacylglycerol O-acyltransferase 2							57.0	57.0	57.0					11																	75438510		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75438510C>A	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.301C>A	11.37:g.75438510C>A						MOGAT2_uc001oww.1_Silent_p.R101R|MOGAT2_uc010rrv.1_Silent_p.R19R	p.R101R	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			3	301	+	Ovarian(111;0.103)		101					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.301C>A	CCDS8240.1																																																																																				PASS	0.627	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		19	108	19	108	---	---	---	---
UVRAG	7405	broad.mit.edu	37	11	75852449	75852449	+	Missense_Mutation	SNP	G	G	A	rs147254159		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:75852449G>A	ENST00000356136.3	+	15	2333	c.2092G>A	c.(2092-2094)Gat>Aat	p.D698N	UVRAG_ENST00000539288.1_Missense_Mutation_p.D326N|UVRAG_ENST00000532130.1_Missense_Mutation_p.D326N|UVRAG_ENST00000538870.1_Missense_Mutation_p.D254N|UVRAG_ENST00000531818.1_Missense_Mutation_p.D326N|UVRAG_ENST00000533454.1_Missense_Mutation_p.D326N|UVRAG_ENST00000528420.1_Missense_Mutation_p.D597N	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	698					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.D698N(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CAGGAGTTCCGATAAGTGAAG	0.478																																						uc001oxc.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|lung(2)	6						c.(2092-2094)GAT>AAT		UV radiation resistance associated		G	ASN/ASP	0,4400		0,0,2200	37.0	40.0	39.0		2092	5.1	0.2	11	dbSNP_134	39	1,8583	1.2+/-3.3	0,1,4291	no	missense	UVRAG	NM_003369.3	23	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	698/700	75852449	1,12983	2200	4292	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75852449G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.2092G>A	11.37:g.75852449G>A	ENSP00000348455:p.Asp698Asn					UVRAG_uc010rrw.1_Missense_Mutation_p.D597N|UVRAG_uc001oxd.2_Missense_Mutation_p.D326N|UVRAG_uc010rrx.1_Missense_Mutation_p.D326N|UVRAG_uc010rry.1_Missense_Mutation_p.D254N	p.D698N	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			15	2333	+			698					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.2092G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671516	0.67814	0.0	1.16E-4	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.57595	0.39	5.99	5.07	0.68467	.	0.185561	0.56097	D	0.000028	T	0.46580	0.1400	N	0.08118	0	0.39554	D	0.969028	P;D	0.69078	0.956;0.997	B;P	0.53760	0.446;0.734	T	0.60068	-0.7335	10	0.87932	D	0	-3.1083	15.693	0.77469	0.0:0.0:0.8621:0.1379	.	254;698	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	N	698;597;326;326;326;326;254	ENSP00000348455:D698N	ENSP00000348455:D698N	D	+	1	0	UVRAG	75530097	1.000000	0.71417	0.171000	0.22900	0.277000	0.26821	9.434000	0.97515	1.520000	0.48965	-0.181000	0.13052	GAT		PASS	0.478	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		13	65	13	65	---	---	---	---
TRIM49	57093	broad.mit.edu	37	11	89537478	89537478	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:89537478C>T	ENST00000329758.1	-	3	488	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	TRIM49_ENST00000532501.2_Missense_Mutation_p.E54K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	54						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E54K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTGTGCATTCAGAGCACTGG	0.463																																						uc001pdb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)GAA>AAA		ring finger protein 18							108.0	98.0	102.0					11																	89537478		2191	4296	6487	SO:0001583	missense	57093					intracellular	zinc ion binding	g.chr11:89537478C>T	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.160G>A	11.37:g.89537478C>T	ENSP00000327604:p.Glu54Lys						p.E54K	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			3	489	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	54			RING-type.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	c.160G>A	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.402674	0.00195	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.08634	3.07	0.821	-0.2	0.13216	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.05960	0.0155	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.43196	-0.9406	8	.	.	.	.	4.2566	0.10721	0.0:0.7275:0.0:0.2725	.	54	P0CI25	TRI49_HUMAN	K	54	ENSP00000327604:E54K	.	E	-	1	0	TRIM49	89177126	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.326000	0.02685	-0.216000	0.10048	-1.050000	0.02344	GAA		PASS	0.463	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		23	161	23	161	---	---	---	---
PANX1	24145	broad.mit.edu	37	11	93862491	93862491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:93862491C>T	ENST00000227638.3	+	1	398	c.13C>T	c.(13-15)Caa>Taa	p.Q5*	PANX1_ENST00000436171.2_Nonsense_Mutation_p.Q5*	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	5			Q -> H (in dbSNP:rs1138800). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15028292, ECO:0000269|PubMed:16303743, ECO:0000269|Ref.1}.		calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)	p.Q5*(1)		endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GGCCATCGCTCAACTGGCCAC	0.662																																						uc001per.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(13-15)CAA>TAA		pannexin 1							38.0	36.0	37.0					11																	93862491		2201	4298	6499	SO:0001587	stop_gained	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93862491C>T	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.13C>T	11.37:g.93862491C>T	ENSP00000227638:p.Gln5*					uc001pen.1_Intron|PANX1_uc001peq.2_Nonsense_Mutation_p.Q5*	p.Q5*	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			1	398	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	5			Cytoplasmic (Potential).		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Nonsense_Mutation	SNP	ENST00000227638.3	37	c.13C>T	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	C	41	8.727679	0.98931	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	.	.	.	4.21	4.21	0.49690	.	0.225864	0.43579	D	0.000546	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-18.9619	16.3585	0.83245	0.0:1.0:0.0:0.0	.	.	.	.	X	5	.	ENSP00000227638:Q5X	Q	+	1	0	PANX1	93502139	0.800000	0.28916	1.000000	0.80357	0.978000	0.69477	2.014000	0.40951	2.184000	0.69523	0.491000	0.48974	CAA		PASS	0.662	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		21	57	21	57	---	---	---	---
MRE11A	4361	broad.mit.edu	37	11	94180422	94180422	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:94180422C>T	ENST00000323929.3	-	15	1968	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	MRE11A_ENST00000323977.3_Silent_p.Q582Q|MRE11A_ENST00000393241.4_Silent_p.Q582Q|MRE11A_ENST00000407439.3_Silent_p.Q585Q	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	582					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.Q582Q(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ATGCTGAATTCTGCCCTCTTC	0.478								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													uc001peu.2																			2	Substitution - coding silent(2)		lung(2)	breast(4)|lung(1)	5						c.(1744-1746)CAG>CAA	Homologous_recombination	meiotic recombination 11 homolog A isoform 1							237.0	214.0	222.0					11																	94180422		2201	4298	6499	SO:0001819	synonymous_variant	4361	Ataxia-Telangiectasia-Like_Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94180422C>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1746G>A	11.37:g.94180422C>T						MRE11A_uc001pev.2_Silent_p.Q582Q|MRE11A_uc009ywj.2_Silent_p.Q585Q	p.Q582Q	NM_005591	NP_005582	P49959	MRE11_HUMAN			15	1935	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	582					O43475	Silent	SNP	ENST00000323929.3	37	c.1746G>A	CCDS8299.1																																																																																				PASS	0.478	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		22	426	22	426	---	---	---	---
CCDC82	79780	broad.mit.edu	37	11	96117808	96117808	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:96117808G>C	ENST00000278520.5	-	3	532	c.104C>G	c.(103-105)tCa>tGa	p.S35*	CCDC82_ENST00000542662.1_Nonsense_Mutation_p.S35*|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Nonsense_Mutation_p.S35*			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	35								p.S35*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		AAGTAATTGTGAGATACTACT	0.358																																						uc009ywp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(103-105)TCA>TGA		coiled-coil domain containing 82							108.0	100.0	103.0					11																	96117808		2201	4295	6496	SO:0001587	stop_gained	79780						protein binding	g.chr11:96117808G>C	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.104C>G	11.37:g.96117808G>C	ENSP00000278520:p.Ser35*					CCDC82_uc009ywq.2_Nonsense_Mutation_p.S35*|CCDC82_uc001pfx.3_Nonsense_Mutation_p.S35*|CCDC82_uc009ywr.2_Nonsense_Mutation_p.S35*|CCDC82_uc009yws.2_Nonsense_Mutation_p.S35*	p.S35*	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	1	347	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	35					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Nonsense_Mutation	SNP	ENST00000278520.5	37	c.104C>G	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486650	0.96323	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597	.	.	.	5.77	2.87	0.33458	.	0.484707	0.17854	N	0.159751	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-0.6093	8.4591	0.32917	0.256:0.0:0.744:0.0	.	.	.	.	X	35	.	ENSP00000278520:S35X	S	-	2	0	CCDC82	95757456	0.798000	0.28890	0.136000	0.22124	0.639000	0.38242	0.823000	0.27366	0.900000	0.36469	0.655000	0.94253	TCA		PASS	0.358	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		13	61	13	61	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	102993708	102993708	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:102993708C>T	ENST00000375735.2	+	11	1784	c.1640C>T	c.(1639-1641)tCt>tTt	p.S547F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S547F|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.S547F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	547	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S547F(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCAGGTTTATCTGATTCCAGA	0.333																																						uc001pho.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1639-1641)TCT>TTT		dynein, cytoplasmic 2, heavy chain 1							89.0	83.0	85.0					11																	102993708		1810	4073	5883	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102993708C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1640C>T	11.37:g.102993708C>T	ENSP00000364887:p.Ser547Phe					DYNC2H1_uc001phn.1_Missense_Mutation_p.S547F|DYNC2H1_uc009yxe.1_Missense_Mutation_p.S547F	p.S547F	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	11	1784	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	547			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.1640C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673701	0.88445	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.56275	0.47;0.47;0.47	5.23	5.23	0.72850	Dynein heavy chain, domain-1 (1);	1.754050	0.05658	U	0.586293	T	0.77018	0.4069	M	0.73598	2.24	0.53005	D	0.999966	D;P;P	0.76494	0.999;0.953;0.897	D;P;P	0.71656	0.974;0.863;0.785	T	0.66156	-0.5994	10	0.49607	T	0.09	.	19.1791	0.93615	0.0:1.0:0.0:0.0	.	547;547;547	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	F	547	ENSP00000364887:S547F;ENSP00000334021:S547F;ENSP00000381167:S547F	ENSP00000334021:S547F	S	+	2	0	DYNC2H1	102498918	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.486000	0.66856	2.603000	0.88011	0.650000	0.86243	TCT		PASS	0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		4	16	4	16	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105623869	105623869	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:105623869C>A	ENST00000530497.1	+	3	410	c.410C>A	c.(409-411)tCg>tAg	p.S137*	GRIA4_ENST00000282499.5_Nonsense_Mutation_p.S137*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.S137*|GRIA4_ENST00000428631.2_Nonsense_Mutation_p.S137*|GRIA4_ENST00000393125.2_Nonsense_Mutation_p.S137*|GRIA4_ENST00000393127.2_Nonsense_Mutation_p.S137*			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	137					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.S137*(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTAAGACCTTCGTTACGAGGA	0.473																																						uc001pix.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(409-411)TCG>TAG		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						164.0	135.0	145.0					11																	105623869		2202	4299	6501	SO:0001587	stop_gained	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105623869C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.410C>A	11.37:g.105623869C>A	ENSP00000435775:p.Ser137*					GRIA4_uc001piu.1_Nonsense_Mutation_p.S137*|GRIA4_uc001piw.2_Nonsense_Mutation_p.S137*|GRIA4_uc001piv.2_Nonsense_Mutation_p.S137*|GRIA4_uc009yxk.1_Nonsense_Mutation_p.S137*	p.S137*	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	4	856	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	137			Extracellular (Potential).		Q86XE8	Nonsense_Mutation	SNP	ENST00000530497.1	37	c.410C>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190132	0.58017	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	.	.	.	5.51	5.51	0.81932	.	0.105263	0.43110	D	0.000611	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000282499:S137X	S	+	2	0	GRIA4	105129079	1.000000	0.71417	0.038000	0.18304	0.035000	0.12851	7.818000	0.86416	2.600000	0.87896	0.655000	0.94253	TCG		PASS	0.473	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			29	107	29	107	---	---	---	---
MSANTD4	84437	broad.mit.edu	37	11	105881453	105881453	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:105881453C>G	ENST00000301919.4	-	2	1607	c.192G>C	c.(190-192)agG>agC	p.R64S	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	64	Myb-like.					nucleus (GO:0005634)		p.R64S(1)									CTGTCCCTGTCCTCTGTTCTC	0.453																																						uc001piy.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(190-192)AGG>AGC		hypothetical protein LOC84437							317.0	282.0	294.0					11																	105881453		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105881453C>G	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.192G>C	11.37:g.105881453C>G	ENSP00000304713:p.Arg64Ser					KIAA1826_uc001piz.2_Missense_Mutation_p.R64S	p.R64S	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)	2	365	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	64					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.192G>C	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968831	0.53614	.	.	ENSG00000170903	ENST00000301919;ENST00000530788;ENST00000534458;ENST00000530108	.	.	.	6.01	1.31	0.21738	.	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	L	0.32530	0.975	0.47214	D	0.999353	D	0.62365	0.991	D	0.76071	0.987	T	0.54118	-0.8341	9	0.72032	D	0.01	-5.7913	7.209	0.25923	0.0:0.3679:0.0:0.6321	.	64	Q8NCY6	K1826_HUMAN	S	64	.	ENSP00000304713:R64S	R	-	3	2	KIAA1826	105386663	1.000000	0.71417	0.999000	0.59377	0.707000	0.40811	0.952000	0.29149	0.352000	0.24053	-0.150000	0.13652	AGG		PASS	0.453	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		10	502	10	502	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107288944	107288944	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:107288944G>C	ENST00000282251.5	-	9	1530	c.1503C>G	c.(1501-1503)atC>atG	p.I501M	CWF19L2_ENST00000433523.1_Missense_Mutation_p.I501M	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	501							catalytic activity (GO:0003824)	p.I347M(1)|p.I347I(1)|p.I501I(1)|p.I501M(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCTCTGCTTTGATAATCTTGG	0.363																																						uc010rvp.1																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)		0						c.(1501-1503)ATC>ATG		CWF19-like 2, cell cycle control							190.0	172.0	178.0					11																	107288944		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107288944G>C	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1503C>G	11.37:g.107288944G>C	ENSP00000282251:p.Ile501Met					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.I501M	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	9	1533	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	501					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1503C>G	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573242	0.65765	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.33216	1.42;1.42	5.52	4.61	0.57282	.	0.119078	0.56097	D	0.000025	T	0.27832	0.0685	M	0.74881	2.28	0.39073	D	0.960768	B	0.33135	0.399	B	0.28709	0.093	T	0.17837	-1.0356	10	0.02654	T	1	-11.4665	12.2485	0.54585	0.0828:0.0:0.9172:0.0	.	501	Q2TBE0	C19L2_HUMAN	M	501	ENSP00000282251:I501M;ENSP00000387533:I501M	ENSP00000282251:I501M	I	-	3	3	CWF19L2	106794154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.656000	0.54467	1.476000	0.48215	0.591000	0.81541	ATC		PASS	0.363	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		17	78	17	78	---	---	---	---
DIXDC1	85458	broad.mit.edu	37	11	111864426	111864426	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:111864426G>T	ENST00000440460.2	+	15	1693	c.1396G>T	c.(1396-1398)Gtc>Ttc	p.V466F	DIXDC1_ENST00000315253.5_Missense_Mutation_p.V255F|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	467					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)	p.V466F(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ACACAAAGATGTCCTCTTGGC	0.463																																						uc001pml.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1399-1401)GTC>TTC		DIX domain containing 1 isoform a							90.0	87.0	88.0					11																	111864426		1939	4142	6081	SO:0001583	missense	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111864426G>T	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1396G>T	11.37:g.111864426G>T	ENSP00000394352:p.Val466Phe					DIXDC1_uc001pmm.2_Missense_Mutation_p.V256F|DIXDC1_uc001pmn.2_Missense_Mutation_p.V173F|DIXDC1_uc010rwq.1_Missense_Mutation_p.V132F	p.V467F	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	15	1696	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	467					A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	ENST00000440460.2	37	c.1399G>T		.	.	.	.	.	.	.	.	.	.	G	25.5	4.639564	0.87760	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.71817	-0.6;0.79	5.35	5.35	0.76521	.	0.449627	0.22894	N	0.054346	T	0.73636	0.3612	.	.	.	0.36270	D	0.8551	P;P;P	0.52316	0.902;0.902;0.952	B;B;P	0.47744	0.352;0.445;0.556	T	0.80500	-0.1355	9	0.56958	D	0.05	-24.1971	16.5802	0.84713	0.0:0.0:1.0:0.0	.	132;255;467	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	F	466;255	ENSP00000394352:V466F;ENSP00000314068:V255F	ENSP00000314068:V255F	V	+	1	0	DIXDC1	111369636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.251000	0.58778	2.657000	0.90304	0.650000	0.86243	GTC		PASS	0.463	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954		11	59	11	59	---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114121138	114121138	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:114121138C>T	ENST00000335953.4	+	7	2263	c.1883C>T	c.(1882-1884)tCg>tTg	p.S628L	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.S628L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	628					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S628L(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AACGGCGCCTCGCCCTACCAG	0.627																																						uc001pop.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1882-1884)TCG>TTG		promyelocytic leukemia zinc finger protein							95.0	81.0	86.0					11																	114121138		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114121138C>T	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1883C>T	11.37:g.114121138C>T	ENSP00000338157:p.Ser628Leu					ZBTB16_uc001poq.2_Missense_Mutation_p.S628L	p.S628L	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	7	2147	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	628					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1883C>T	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	c	23.7	4.446681	0.84101	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.60548	0.18;0.18	5.24	5.24	0.73138	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.55577	0.1929	N	0.02368	-0.58	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	T	0.72581	-0.4250	10	0.87932	D	0	-3.9727	18.8706	0.92311	0.0:1.0:0.0:0.0	.	628	Q05516	ZBT16_HUMAN	L	628;628;505	ENSP00000338157:S628L;ENSP00000376721:S628L	ENSP00000309507:S505L	S	+	2	0	ZBTB16	113626348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.737000	0.84957	2.455000	0.83008	0.436000	0.28706	TCG		PASS	0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		28	140	28	140	---	---	---	---
BUD13	84811	broad.mit.edu	37	11	116633715	116633715	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:116633715G>A	ENST00000260210.4	-	4	613	c.590C>T	c.(589-591)tCt>tTt	p.S197F	BUD13_ENST00000375445.3_Missense_Mutation_p.S197F	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	197	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)	p.S197F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		AGGATCTGGAGAATCATGACG	0.567																																						uc001ppn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(589-591)TCT>TTT		BUD13 homolog isoform 1							114.0	118.0	117.0					11																	116633715		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116633715G>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.590C>T	11.37:g.116633715G>A	ENSP00000260210:p.Ser197Phe					BUD13_uc001ppo.2_Missense_Mutation_p.S197F|BUD13_uc009yzc.2_Missense_Mutation_p.S197F	p.S197F	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	624	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	197			Arg-rich.		A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.590C>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148670	0.37923	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.25414	1.83;1.8	5.08	4.15	0.48705	.	0.396218	0.28166	N	0.016355	T	0.45538	0.1347	M	0.76938	2.355	0.19775	N	0.999956	D;P;P	0.56746	0.977;0.942;0.916	P;P;P	0.60068	0.868;0.86;0.698	T	0.36915	-0.9728	10	0.87932	D	0	-2.1354	9.9528	0.41649	0.0749:0.1406:0.7844:0.0	.	197;197;197	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	F	197	ENSP00000364594:S197F;ENSP00000260210:S197F	ENSP00000260210:S197F	S	-	2	0	BUD13	116138925	0.970000	0.33590	0.001000	0.08648	0.053000	0.15095	5.921000	0.70028	1.323000	0.45263	0.655000	0.94253	TCT		PASS	0.567	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		39	253	39	253	---	---	---	---
TMPRSS4	56649	broad.mit.edu	37	11	117969767	117969767	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:117969767C>T	ENST00000437212.3	+	3	325	c.111C>T	c.(109-111)atC>atT	p.I37I	TMPRSS4_ENST00000534111.1_Silent_p.I35I|TMPRSS4_ENST00000522307.1_Intron|TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522824.1_Silent_p.I37I			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	37					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.I37I(1)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TCCCCATCATCATAGCACTAC	0.527																																						uc010rxo.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(109-111)ATC>ATT		transmembrane protease, serine 4 isoform 1							227.0	193.0	204.0					11																	117969767		2200	4296	6496	SO:0001819	synonymous_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117969767C>T	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.111C>T	11.37:g.117969767C>T						TMPRSS4_uc010rxp.1_Silent_p.I37I|TMPRSS4_uc010rxq.1_Intron|TMPRSS4_uc010rxr.1_Silent_p.I12I|TMPRSS4_uc010rxs.1_Intron|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.I12I	p.I37I	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	3	402	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	37			Helical; Signal-anchor for type II membrane protein; (Potential).		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	c.111C>T	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	C	2.865	-0.235301	0.05983	.	.	ENSG00000137648	ENST00000517544	.	.	.	4.31	-1.65	0.08291	.	.	.	.	.	T	0.37376	0.1001	.	.	.	0.28182	N	0.928115	.	.	.	.	.	.	T	0.45396	-0.9264	5	0.87932	D	0	.	5.0477	0.14492	0.0:0.3615:0.1552:0.4832	.	.	.	.	Y	4	.	ENSP00000431062:H39Y	H	+	1	0	TMPRSS4	117474977	0.012000	0.17670	0.173000	0.22940	0.152000	0.21847	-1.184000	0.03076	-0.074000	0.12820	0.456000	0.33151	CAT		PASS	0.527	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		36	134	36	134	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118374740	118374740	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:118374740G>A	ENST00000389506.5	+	27	8124	c.8124G>A	c.(8122-8124)caG>caA	p.Q2708Q	KMT2A_ENST00000534358.1_Silent_p.Q2711Q|KMT2A_ENST00000354520.4_Silent_p.Q2670Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2708					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.Q2711Q(1)|p.Q2708Q(1)									AGGAGGAACAGTGTGATCTTC	0.428																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - coding silent(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(8122-8124)CAG>CAA		myeloid/lymphoid or mixed-lineage leukemia							76.0	67.0	70.0					11																	118374740		2200	4296	6496	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374740G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8124G>A	11.37:g.118374740G>A						MLL_uc001ptb.2_Silent_p.Q2711Q	p.Q2708Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	8147	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2708					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.8124G>A	CCDS31686.1																																																																																				PASS	0.428	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		21	83	21	83	---	---	---	---
OR8D2	283160	broad.mit.edu	37	11	124189230	124189230	+	Silent	SNP	T	T	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:124189230T>A	ENST00000357438.2	-	1	954	c.864A>T	c.(862-864)ctA>ctT	p.L288L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L288L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GGCTATAGATTAGAGGATTCA	0.433																																						uc010sah.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(862-864)CTA>CTT		olfactory receptor, family 8, subfamily D,							133.0	136.0	135.0					11																	124189230		2201	4299	6500	SO:0001819	synonymous_variant	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189230T>A	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.864A>T	11.37:g.124189230T>A							p.L288L	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	864	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	288			Helical; Name=7; (Potential).		B9EH49|Q6IFR0	Silent	SNP	ENST00000357438.2	37	c.864A>T	CCDS31707.1																																																																																				PASS	0.433	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		51	242	51	242	---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4920413	4920413	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:4920413C>T	ENST00000280684.3	+	1	2072	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D	KCNA6_ENST00000433855.1_Silent_p.D402D|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	402					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.D402D(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTGACGATGACGATTCGCTTT	0.572										HNSCC(72;0.22)																												uc001qng.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1204-1206)GAC>GAT		potassium voltage-gated channel, shaker-related							147.0	124.0	132.0					12																	4920413		2203	4300	6503	SO:0001819	synonymous_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920413C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1206C>T	12.37:g.4920413C>T		HNSCC(72;0.22)					p.D402D	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	2072	+			402						Silent	SNP	ENST00000280684.3	37	c.1206C>T	CCDS8534.1																																																																																				PASS	0.572	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		25	218	25	218	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7469835	7469835	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:7469835C>T	ENST00000399422.4	+	4	771	c.723C>T	c.(721-723)caC>caT	p.H241H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	241					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.H241H(2)		endometrium(6)|kidney(1)|lung(14)	21						TGGCCCAGCACTCTCAGAGCA	0.498																																						uc001qsx.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(721-723)CAC>CAT		acyl-CoA synthetase medium-chain family member 4							46.0	48.0	47.0					12																	7469835		1952	4143	6095	SO:0001819	synonymous_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7469835C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.723C>T	12.37:g.7469835C>T							p.H241H	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			4	723	+			241					A8MTI6	Silent	SNP	ENST00000399422.4	37	c.723C>T	CCDS44825.1																																																																																				PASS	0.498	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		5	15	5	15	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9318783	9318783	+	Missense_Mutation	SNP	A	A	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:9318783A>T	ENST00000261336.2	-	18	2151	c.2123T>A	c.(2122-2124)gTa>gAa	p.V708E	PZP_ENST00000381997.2_Missense_Mutation_p.V577E|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	708	Bait region.				female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V708E(1)|p.V577E(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGGTCTCTCTACTACTCCTAG	0.368																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(2122-2124)GTA>GAA		pregnancy-zone protein precursor							96.0	92.0	94.0					12																	9318783		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9318783A>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2123T>A	12.37:g.9318783A>T	ENSP00000261336:p.Val708Glu					PZP_uc009zgl.2_Missense_Mutation_p.V577E|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.V40E	p.V708E	NM_002864	NP_002855					18	2152	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.2123T>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	A	2.381	-0.342082	0.05243	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35421	1.5;1.31	2.46	-4.92	0.03075	.	3.325340	0.01985	U	0.045130	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	B;B;B	0.24092	0.02;0.003;0.097	B;B;B	0.18263	0.007;0.007;0.021	T	0.05767	-1.0865	10	0.25106	T	0.35	.	1.2648	0.02009	0.4716:0.1278:0.1438:0.2568	.	708;577;708	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	E	708;577	ENSP00000261336:V708E;ENSP00000371427:V577E	ENSP00000261336:V708E	V	-	2	0	PZP	9210050	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.123000	0.00594	-1.818000	0.01218	-0.375000	0.07067	GTA		PASS	0.368	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		13	81	13	81	---	---	---	---
MANSC1	54682	broad.mit.edu	37	12	12483226	12483226	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:12483226G>C	ENST00000535902.1	-	4	1594	c.1031C>G	c.(1030-1032)tCa>tGa	p.S344*	MANSC1_ENST00000396349.3_Nonsense_Mutation_p.S310*|MANSC1_ENST00000545735.1_Nonsense_Mutation_p.S263*			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	344						integral component of membrane (GO:0016021)		p.S344*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTCCACATTTGACATAGAAAG	0.463																																						uc001rai.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1030-1032)TCA>TGA		MANSC domain containing 1 precursor							126.0	122.0	123.0					12																	12483226		2203	4300	6503	SO:0001587	stop_gained	54682					integral to membrane		g.chr12:12483226G>C	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.1031C>G	12.37:g.12483226G>C	ENSP00000438205:p.Ser344*					MANSC1_uc010shm.1_Nonsense_Mutation_p.S278*|MANSC1_uc001raj.1_Nonsense_Mutation_p.S310*|MANSC1_uc009zht.1_Nonsense_Mutation_p.S263*	p.S344*	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1289	-		Prostate(47;0.0865)	344			Extracellular (Potential).		Q8NEC1|Q9NW60	Nonsense_Mutation	SNP	ENST00000535902.1	37	c.1031C>G	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	G	39	7.548380	0.98352	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	.	.	.	5.04	5.04	0.67666	.	0.000000	0.33290	N	0.005063	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-32.5168	13.8598	0.63552	0.0:0.0:1.0:0.0	.	.	.	.	X	344;310;263;263	.	ENSP00000347765:S263X	S	-	2	0	MANSC1	12374493	0.987000	0.35691	0.014000	0.15608	0.058000	0.15608	4.653000	0.61462	2.342000	0.79632	0.491000	0.48974	TCA		PASS	0.463	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		26	215	26	215	---	---	---	---
STRAP	11171	broad.mit.edu	37	12	16043599	16043599	+	Missense_Mutation	SNP	A	A	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:16043599A>C	ENST00000419869.2	+	4	712	c.399A>C	c.(397-399)gaA>gaC	p.E133D	STRAP_ENST00000538352.1_Missense_Mutation_p.E39D|STRAP_ENST00000025399.6_Missense_Mutation_p.E146D	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	133					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)	p.E133D(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				ACAAACCTGAAGCAGGTAAGC	0.289																																						uc001rdc.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(397-399)GAA>GAC		serine/threonine kinase receptor associated							73.0	75.0	74.0					12																	16043599		2203	4300	6503	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16043599A>C	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.399A>C	12.37:g.16043599A>C	ENSP00000392270:p.Glu133Asp					STRAP_uc010shw.1_Missense_Mutation_p.E146D|STRAP_uc001rdd.3_Missense_Mutation_p.E39D	p.E133D	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN			4	753	+		Hepatocellular(102;0.121)	133			WD 3.		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.399A>C	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	A	0.206	-1.040388	0.02013	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	T;T;T	0.62364	1.08;0.06;0.03	4.81	2.34	0.29019	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.246452	0.47455	N	0.000239	T	0.40670	0.1126	N	0.17082	0.46	0.50813	D	0.99989	B;B	0.14012	0.009;0.007	B;B	0.15052	0.012;0.006	T	0.09509	-1.0671	10	0.15952	T	0.53	-11.8917	9.933	0.41534	0.729:0.0:0.0:0.271	.	146;133	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	D	39;146;133	ENSP00000439761:E39D;ENSP00000025399:E146D;ENSP00000392270:E133D	ENSP00000025399:E146D	E	+	3	2	STRAP	15934866	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	1.973000	0.40550	0.294000	0.22547	0.477000	0.44152	GAA		PASS	0.289	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		14	76	14	76	---	---	---	---
KCNJ8	3764	broad.mit.edu	37	12	21926476	21926476	+	Silent	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:21926476C>G	ENST00000240662.2	-	2	420	c.75G>C	c.(73-75)ccG>ccC	p.P25P		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	25					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.P25P(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CTCGGATGCGCGGCTTGCGCA	0.607											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rff.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(73-75)CCG>CCC		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)						75.0	76.0	76.0					12																	21926476		2203	4300	6503	SO:0001819	synonymous_variant	3764					voltage-gated potassium channel complex		g.chr12:21926476C>G	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.75G>C	12.37:g.21926476C>G			OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.P25P	NM_004982	NP_004973	Q15842	IRK8_HUMAN			2	413	-			25			Cytoplasmic (By similarity).		O00657	Silent	SNP	ENST00000240662.2	37	c.75G>C	CCDS8692.1																																																																																				PASS	0.607	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		20	160	20	160	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26839460	26839460	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:26839460C>T	ENST00000381340.3	-	11	1518	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	368	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.E368K(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCATCTAGTTCAAAAAGGGAT	0.413																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(1102-1104)GAA>AAA		inositol 1,4,5-triphosphate receptor, type 2							139.0	131.0	134.0					12																	26839460		1894	4119	6013	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26839460C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1102G>A	12.37:g.26839460C>T	ENSP00000370744:p.Glu368Lys						p.E368K	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			11	1519	-	Colorectal(261;0.0847)		368			Cytoplasmic (Potential).|MIR 4.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1102G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379870	0.95945	.	.	ENSG00000123104	ENST00000381340	D	0.87256	-2.23	5.06	5.06	0.68205	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.93713	0.7991	M	0.85630	2.765	0.80722	D	1	D	0.56035	0.974	D	0.65323	0.934	D	0.93500	0.6843	10	0.46703	T	0.11	.	18.6404	0.91393	0.0:1.0:0.0:0.0	.	368	Q14571	ITPR2_HUMAN	K	368	ENSP00000370744:E368K	ENSP00000370744:E368K	E	-	1	0	ITPR2	26730727	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.307000	0.78920	2.631000	0.89168	0.650000	0.86243	GAA		PASS	0.413	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		32	171	32	171	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31307356	31307356	+	IGR	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:31307356T>C								RP11-551L14.1 (36951 upstream) : FAM60A (126161 downstream)														p.K242E(2)									ATTTGGGTTTTCCCTTGCACA	0.383																																						uc010sjy.1																			2	Substitution - Missense(2)		lung(2)								c.(724-726)AAA>GAA		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							69.0	69.0	69.0					12																	31307356		1841	4091	5932	SO:0001628	intergenic_variant	0							g.chr12:31307356T>C																													12.37:g.31307356T>C							p.K242E							7	724	-									Missense_Mutation	SNP		37	c.724A>G																																																																																				0	PASS	0.383									2	14	2	14	---	---	---	---
DENND5B	160518	broad.mit.edu	37	12	31540554	31540554	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:31540554T>C	ENST00000389082.5	-	21	4072	c.3808A>G	c.(3808-3810)Aaa>Gaa	p.K1270E	DENND5B_ENST00000306833.6_Missense_Mutation_p.K1305E|DENND5B_ENST00000536562.1_Missense_Mutation_p.K1305E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1270					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K1270E(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCACTCCTTTGATGAGTGAT	0.502																																						uc001rki.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3808-3810)AAA>GAA		DENN/MADD domain containing 5B							91.0	85.0	87.0					12																	31540554		1932	4143	6075	SO:0001583	missense	160518					integral to membrane		g.chr12:31540554T>C	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3808A>G	12.37:g.31540554T>C	ENSP00000373734:p.Lys1270Glu					DENND5B_uc001rkh.1_Missense_Mutation_p.K1305E|DENND5B_uc009zjq.1_Intron	p.K1270E	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			21	3994	-			1270					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3808A>G	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564384	0.86335	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.04454	3.62;3.73;3.73	4.98	4.98	0.66077	.	0.066015	0.56097	D	0.000027	T	0.13927	0.0337	M	0.62723	1.935	0.80722	D	1	P;D	0.54772	0.945;0.968	P;P	0.54312	0.459;0.748	T	0.00334	-1.1809	10	0.72032	D	0.01	-18.0055	14.8124	0.70006	0.0:0.0:0.0:1.0	.	1270;1305	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	E	1270;1305;1305	ENSP00000373734:K1270E;ENSP00000306482:K1305E;ENSP00000444889:K1305E	ENSP00000306482:K1305E	K	-	1	0	DENND5B	31431821	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.626000	0.83164	2.098000	0.63641	0.482000	0.46254	AAA		PASS	0.502	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		8	62	8	62	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41327501	41327501	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:41327501C>T	ENST00000551295.2	+	9	923	c.806C>T	c.(805-807)cCt>cTt	p.P269L	CNTN1_ENST00000348761.2_Missense_Mutation_p.P258L|CNTN1_ENST00000360099.3_Missense_Mutation_p.P269L|CNTN1_ENST00000547849.1_Missense_Mutation_p.P269L|CNTN1_ENST00000347616.1_Missense_Mutation_p.P269L|CNTN1_ENST00000547702.1_Missense_Mutation_p.P269L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	269	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P269L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATTTAAAGTCCTGTTCCGGAT	0.363																																						uc001rmm.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(805-807)CCT>CTT		contactin 1 isoform 1 precursor							82.0	84.0	83.0					12																	41327501		2202	4299	6501	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41327501C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.806C>T	12.37:g.41327501C>T	ENSP00000447006:p.Pro269Leu					CNTN1_uc009zjy.1_Missense_Mutation_p.P269L|CNTN1_uc001rmn.1_Missense_Mutation_p.P258L|CNTN1_uc001rmo.2_Missense_Mutation_p.P269L	p.P269L	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			9	919	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	269			Ig-like C2-type 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.806C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723008	0.89298	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80292	0.4596	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88498	0.3080	10	0.87932	D	0	.	19.267	0.93990	0.0:1.0:0.0:0.0	.	269;258;269	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	L	269;269;269;269;269;258	ENSP00000448004:P269L;ENSP00000447006:P269L;ENSP00000448653:P269L;ENSP00000325660:P269L;ENSP00000353213:P269L;ENSP00000261160:P258L	ENSP00000325660:P269L	P	+	2	0	CNTN1	39613768	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.294000	0.78760	2.642000	0.89623	0.650000	0.86243	CCT		PASS	0.363	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		13	112	13	112	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41327632	41327632	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:41327632G>A	ENST00000551295.2	+	9	1054	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CNTN1_ENST00000348761.2_Missense_Mutation_p.E302K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E313K|CNTN1_ENST00000547849.1_Missense_Mutation_p.E313K|CNTN1_ENST00000347616.1_Missense_Mutation_p.E313K|CNTN1_ENST00000547702.1_Missense_Mutation_p.E313K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	313	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.E313K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATGTGAGGCTGAGAACATTAG	0.348																																						uc001rmm.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(937-939)GAG>AAG		contactin 1 isoform 1 precursor							85.0	87.0	86.0					12																	41327632		2203	4299	6502	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41327632G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.937G>A	12.37:g.41327632G>A	ENSP00000447006:p.Glu313Lys					CNTN1_uc009zjy.1_Missense_Mutation_p.E313K|CNTN1_uc001rmn.1_Missense_Mutation_p.E302K|CNTN1_uc001rmo.2_Missense_Mutation_p.E313K	p.E313K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			9	1050	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	313			Ig-like C2-type 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.937G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688505	0.48097	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.11	5.11	0.69529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186403	0.47852	D	0.000214	T	0.56848	0.2013	L	0.41415	1.275	0.41580	D	0.98873	B;B;B	0.26120	0.024;0.117;0.142	B;B;B	0.26202	0.018;0.04;0.067	T	0.54529	-0.8280	10	0.33141	T	0.24	.	12.3047	0.54895	0.0781:0.0:0.9219:0.0	.	313;302;313	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	K	313;313;313;313;313;302	ENSP00000448004:E313K;ENSP00000447006:E313K;ENSP00000448653:E313K;ENSP00000325660:E313K;ENSP00000353213:E313K;ENSP00000261160:E302K	ENSP00000325660:E313K	E	+	1	0	CNTN1	39613899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.583000	0.46094	2.572000	0.86782	0.561000	0.74099	GAG		PASS	0.348	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		13	90	13	90	---	---	---	---
DBX2	440097	broad.mit.edu	37	12	45410159	45410159	+	Silent	SNP	T	T	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:45410159T>A	ENST00000332700.6	-	4	1101	c.930A>T	c.(928-930)ccA>ccT	p.P310P		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	310					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P310P(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CTTCTGGGGGTGGTGCCCCTG	0.483																																						uc001rok.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(928-930)CCA>CCT		developing brain homeobox 2							88.0	89.0	89.0					12																	45410159		2203	4300	6503	SO:0001819	synonymous_variant	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45410159T>A		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.930A>T	12.37:g.45410159T>A							p.P310P	NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	4	1102	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	310						Silent	SNP	ENST00000332700.6	37	c.930A>T	CCDS31781.1																																																																																				PASS	0.483	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		24	124	24	124	---	---	---	---
EIF4B	1975	broad.mit.edu	37	12	53427811	53427811	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:53427811C>T	ENST00000262056.9	+	9	1527	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.R362W|EIF4B_ENST00000420463.3_Missense_Mutation_p.R401W	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	401					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)	p.R401W(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						ACGACGGCCTCGGGAGAGGTG	0.498																																						uc001sbh.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(1201-1203)CGG>TGG		eukaryotic translation initiation factor 4B							28.0	30.0	30.0					12																	53427811		1897	4106	6003	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53427811C>T	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1201C>T	12.37:g.53427811C>T	ENSP00000262056:p.Arg401Trp					EIF4B_uc010snu.1_Missense_Mutation_p.R401W|EIF4B_uc010snv.1_Missense_Mutation_p.R362W|EIF4B_uc001sbi.2_Missense_Mutation_p.R153W	p.R401W	NM_001417	NP_001408	P23588	IF4B_HUMAN			9	1407	+			401					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.1201C>T	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122030	0.56613	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481	D;T;T	0.94457	-3.43;0.7;0.66	5.0	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	M	0.62723	1.935	0.46654	D	0.999142	B;B;B;B	0.29531	0.247;0.16;0.006;0.16	B;B;B;B	0.24269	0.052;0.023;0.001;0.023	D	0.91047	0.4875	10	0.72032	D	0.01	.	12.1043	0.53803	0.3119:0.6881:0.0:0.0	.	362;401;377;401	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	W	401;401;377;362;356	ENSP00000262056:R401W;ENSP00000388806:R401W;ENSP00000449746:R356W	ENSP00000262056:R401W	R	+	1	2	EIF4B	51714078	0.970000	0.33590	1.000000	0.80357	0.667000	0.39255	1.664000	0.37439	1.404000	0.46819	0.460000	0.39030	CGG		PASS	0.498	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		3	11	3	11	---	---	---	---
CALCOCO1	57658	broad.mit.edu	37	12	54109031	54109031	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:54109031T>C	ENST00000550804.1	-	10	1399	c.1339A>G	c.(1339-1341)Aac>Gac	p.N447D	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N362D|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N447D|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.N447D			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	447					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.N447D(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AACACTTGGTTTTGGGTCCTC	0.537																																						uc001sef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1339-1341)AAC>GAC		coiled-coil transcriptional coactivator isoform							184.0	153.0	163.0					12																	54109031		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54109031T>C	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1339A>G	12.37:g.54109031T>C	ENSP00000449960:p.Asn447Asp					CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Missense_Mutation_p.N362D|CALCOCO1_uc010son.1_Missense_Mutation_p.N324D|CALCOCO1_uc001seh.2_Missense_Mutation_p.N447D|CALCOCO1_uc009znd.2_Missense_Mutation_p.N447D|CALCOCO1_uc001seg.2_Missense_Mutation_p.N272D|CALCOCO1_uc010soo.1_Missense_Mutation_p.N440D	p.N447D	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			10	1483	-			447			Potential.		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.1339A>G	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	T	9.186	1.024908	0.19433	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	5.58	3.01	0.34805	.	0.792666	0.10979	N	0.612916	T	0.09774	0.0240	L	0.36672	1.1	0.22552	N	0.998991	B;B;B;B;B;B	0.23185	0.049;0.005;0.066;0.004;0.005;0.081	B;B;B;B;B;B	0.25506	0.038;0.016;0.036;0.009;0.016;0.061	T	0.36138	-0.9760	10	0.14252	T	0.57	-0.9511	11.7818	0.52020	0.0:0.0:0.3774:0.6226	.	440;362;447;447;362;447	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	D	124;362;447;385;447;447;440	ENSP00000397189:N362D;ENSP00000262059:N447D;ENSP00000447647:N447D;ENSP00000449960:N447D	ENSP00000262059:N447D	N	-	1	0	CALCOCO1	52395298	0.987000	0.35691	0.742000	0.31022	0.126000	0.20510	2.222000	0.42926	1.028000	0.39785	0.533000	0.62120	AAC		PASS	0.537	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		34	123	34	123	---	---	---	---
ITGA5	3678	broad.mit.edu	37	12	54795380	54795380	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:54795380G>A	ENST00000293379.4	-	23	2637	c.2376C>T	c.(2374-2376)gtC>gtT	p.V792V	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	792					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.V792V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CGTTCAGGGTGACCTGGGCCT	0.562																																						uc001sga.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2374-2376)GTC>GTT		integrin alpha 5 precursor							140.0	127.0	132.0					12																	54795380		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54795380G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2376C>T	12.37:g.54795380G>A							p.V792V	NM_002205	NP_002196	P08648	ITA5_HUMAN			23	2444	-			792			Extracellular (Potential).		Q96HA5	Silent	SNP	ENST00000293379.4	37	c.2376C>T	CCDS8880.1																																																																																				PASS	0.562	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			40	227	40	227	---	---	---	---
OR6C6	283365	broad.mit.edu	37	12	55688850	55688850	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:55688850G>T	ENST00000358433.2	-	1	166	c.167C>A	c.(166-168)cCa>cAa	p.P56Q		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P56Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAAATACATTGGCGTCTTGAG	0.403																																						uc010sph.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(166-168)CCA>CAA		olfactory receptor, family 6, subfamily C,							77.0	79.0	79.0					12																	55688850		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688850G>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.167C>A	12.37:g.55688850G>T	ENSP00000351211:p.Pro56Gln						p.P56Q	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			1	167	-			56			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000358433.2	37	c.167C>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	16.02	3.005663	0.54254	.	.	ENSG00000188324	ENST00000358433	T	0.02032	4.49	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000286	T	0.20700	0.0498	H	0.96916	3.905	0.50171	D	0.999852	D	0.67145	0.996	D	0.65684	0.937	T	0.40270	-0.9572	10	0.87932	D	0	.	16.7963	0.85603	0.0:0.0:1.0:0.0	.	56	A6NF89	OR6C6_HUMAN	Q	56	ENSP00000351211:P56Q	ENSP00000351211:P56Q	P	-	2	0	OR6C6	53975117	1.000000	0.71417	0.908000	0.35775	0.204000	0.24138	8.486000	0.90451	2.359000	0.80004	0.580000	0.79431	CCA		PASS	0.403	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			11	73	11	73	---	---	---	---
ORMDL2	29095	broad.mit.edu	37	12	56214138	56214138	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:56214138C>G	ENST00000243045.5	+	4	616	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	RP11-762I7.5_ENST00000546837.1_Intron|SARNP_ENST00000336133.3_5'Flank|ORMDL2_ENST00000550836.1_Missense_Mutation_p.Q53E|SARNP_ENST00000552080.1_5'Flank|ORMDL2_ENST00000552672.1_Missense_Mutation_p.Q107E|RP11-762I7.5_ENST00000552719.1_Intron|ORMDL2_ENST00000548974.1_Missense_Mutation_p.Q141E|SARNP_ENST00000444631.2_5'Flank	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORMDL sphingolipid biosynthesis regulator 2	141					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Q141E(1)		kidney(1)|lung(3)	4						GAAGTTGCCCCAGTTCCATGG	0.517																																						uc001shw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)CAG>GAG		ORMDL2							234.0	203.0	213.0					12																	56214138		2203	4300	6503	SO:0001583	missense	29095				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr12:56214138C>G	AF395707	CCDS8893.1	12q13.2	2014-06-16	2014-06-16			ENSG00000123353			16037	protein-coding gene	gene with protein product		610074	"""ORM1 (S. cerevisiae)-like 2"", ""ORM1-like 2 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_014182		Approved	HSPC160, adoplin-2, MST095, MSTP095	uc001shw.1	Q53FV1		ENST00000243045.5:c.421C>G	12.37:g.56214138C>G	ENSP00000243045:p.Gln141Glu					SARNP_uc009zoa.2_5'Flank|SARNP_uc001shs.3_5'Flank|SARNP_uc001sht.2_5'Flank|DNAJC14_uc001shu.1_Intron|SARNP_uc001shv.3_5'Flank	p.Q141E	NM_014182	NP_054901	Q53FV1	ORML2_HUMAN			4	513	+			141					B2RA58|Q7Z4E5|Q8NFX0|Q9P004	Missense_Mutation	SNP	ENST00000243045.5	37	c.421C>G	CCDS8893.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085797	0.55861	.	.	ENSG00000123353	ENST00000243045;ENST00000552672;ENST00000550836;ENST00000548974	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	M	0.68728	2.09	0.80722	D	1	B	0.14805	0.011	B	0.21360	0.034	T	0.59899	-0.7367	9	0.27785	T	0.31	-11.2369	16.9063	0.86128	0.0:1.0:0.0:0.0	.	141	Q53FV1	ORML2_HUMAN	E	141;107;53;141	.	ENSP00000243045:Q141E	Q	+	1	0	ORMDL2	54500405	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.517	ORMDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407934.1	NM_014182		55	220	55	220	---	---	---	---
LEMD3	23592	broad.mit.edu	37	12	65564780	65564780	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:65564780C>A	ENST00000308330.2	+	1	1430	c.1404C>A	c.(1402-1404)ttC>ttA	p.F468L	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	468					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.F468L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CAGGGAGTTTCAGTGCCCACT	0.468																																						uc001ssl.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1402-1404)TTC>TTA		LEM domain containing 3							99.0	81.0	87.0					12																	65564780		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65564780C>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1404C>A	12.37:g.65564780C>A	ENSP00000308369:p.Phe468Leu					LEMD3_uc009zqo.1_Missense_Mutation_p.F468L	p.F468L	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	1	1410	+			468					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1404C>A	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623187	0.66901	.	.	ENSG00000174106	ENST00000308330	T	0.47869	0.83	5.3	4.38	0.52667	.	0.056673	0.64402	D	0.000001	T	0.31071	0.0785	N	0.24115	0.695	0.58432	D	0.999996	P	0.35714	0.517	B	0.31442	0.13	T	0.07252	-1.0782	9	.	.	.	-14.0161	13.1023	0.59226	0.0:0.9181:0.0:0.0819	.	468	Q9Y2U8	MAN1_HUMAN	L	468	ENSP00000308369:F468L	.	F	+	3	2	LEMD3	63851047	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.644000	0.61397	1.309000	0.44985	0.462000	0.41574	TTC		PASS	0.468	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			30	154	30	154	---	---	---	---
KCNMB4	27345	broad.mit.edu	37	12	70824332	70824332	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:70824332C>T	ENST00000258111.4	+	3	991	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	178					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)	p.L178L(1)		kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	CCTCTGGCCCCTGGTGACATT	0.512																																						uc001svx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)CTG>TTG		calcium-activated potassium channel beta 4							178.0	166.0	170.0					12																	70824332		2203	4300	6503	SO:0001819	synonymous_variant	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70824332C>T	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.532C>T	12.37:g.70824332C>T						uc001svy.1_5'Flank	p.L178L	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		3	985	+	Renal(347;0.236)		178			Helical; Name=2; (Potential).		Q8IVR3|Q9NPA4|Q9P0G5	Silent	SNP	ENST00000258111.4	37	c.532C>T	CCDS8997.1																																																																																				PASS	0.512	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		49	266	49	266	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72866928	72866928	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:72866928G>T	ENST00000261180.4	+	5	1513	c.1417G>T	c.(1417-1419)Ggt>Tgt	p.G473C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	473					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G473C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGAATTTGTTGGTACAGACTA	0.423																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1417-1419)GGT>TGT		thyrotropin-releasing hormone degrading enzyme							333.0	295.0	307.0					12																	72866928		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72866928G>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1417G>T	12.37:g.72866928G>T	ENSP00000261180:p.Gly473Cys						p.G473C	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			5	1447	+			473			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1417G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988101	0.93106	.	.	ENSG00000072657	ENST00000261180	T	0.04970	3.52	5.15	5.15	0.70609	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00643	-1.1630	9	.	.	.	.	18.629	0.91352	0.0:0.0:1.0:0.0	.	473	Q9UKU6	TRHDE_HUMAN	C	473	ENSP00000261180:G473C	.	G	+	1	0	TRHDE	71153195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.800000	0.99124	2.400000	0.81607	0.650000	0.86243	GGT		PASS	0.423	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		43	272	43	272	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400750	78400750	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:78400750G>C	ENST00000397909.2	+	8	1605	c.1432G>C	c.(1432-1434)Gtt>Ctt	p.V478L	NAV3_ENST00000228327.6_Missense_Mutation_p.V478L|NAV3_ENST00000266692.7_Missense_Mutation_p.V478L|NAV3_ENST00000536525.2_Missense_Mutation_p.V478L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	478						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.V478L(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAAAATAAAGTTTGCACTGA	0.408										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1432-1434)GTT>CTT		neuron navigator 3							67.0	65.0	66.0					12																	78400750		1835	4083	5918	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400750G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1432G>C	12.37:g.78400750G>C	ENSP00000381007:p.Val478Leu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.V478L	p.V478L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1605	+			478					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1432G>C		.	.	.	.	.	.	.	.	.	.	G	11.27	1.588735	0.28357	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.59364	0.27;1.77;1.77;1.77;1.65	5.73	2.93	0.34026	.	0.207004	0.23181	U	0.051002	T	0.39091	0.1065	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.12293	-1.0553	10	0.27082	T	0.32	-7.3107	8.9528	0.35799	0.2261:0.0:0.7739:0.0	.	478;478	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	L	478	ENSP00000446628:V478L;ENSP00000446132:V478L;ENSP00000381007:V478L;ENSP00000228327:V478L;ENSP00000266692:V478L	ENSP00000228327:V478L	V	+	1	0	NAV3	76924881	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.724000	0.61972	0.777000	0.33496	0.650000	0.86243	GTT		PASS	0.408	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		21	85	21	85	---	---	---	---
METTL25	84190	broad.mit.edu	37	12	82850552	82850552	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:82850552G>C	ENST00000248306.3	+	9	1594	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	509							methyltransferase activity (GO:0008168)	p.D509H(1)									TTCTTTTCTGGATTATGTCAG	0.303																																						uc001szq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1525-1527)GAT>CAT		hypothetical protein LOC84190							71.0	68.0	69.0					12																	82850552		2203	4295	6498	SO:0001583	missense	84190							g.chr12:82850552G>C	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1525G>C	12.37:g.82850552G>C	ENSP00000248306:p.Asp509His						p.D509H	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN			9	1546	+			509					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.1525G>C	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193845	0.58017	.	.	ENSG00000127720	ENST00000248306	T	0.34859	1.34	6.05	6.05	0.98169	.	0.145632	0.64402	D	0.000010	T	0.56702	0.2003	M	0.68952	2.095	0.46849	D	0.999224	D	0.57571	0.98	P	0.60068	0.868	T	0.54689	-0.8256	10	0.59425	D	0.04	-8.4465	17.518	0.87779	0.0:0.0:1.0:0.0	.	509	Q8N6Q8	CL026_HUMAN	H	509	ENSP00000248306:D509H	ENSP00000248306:D509H	D	+	1	0	C12orf26	81374683	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.016000	0.76393	2.878000	0.98634	0.650000	0.86243	GAT		PASS	0.303	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		3	12	3	12	---	---	---	---
LTA4H	4048	broad.mit.edu	37	12	96407023	96407023	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:96407023T>C	ENST00000228740.2	-	14	1463	c.1322A>G	c.(1321-1323)aAt>aGt	p.N441S	LTA4H_ENST00000413268.2_Missense_Mutation_p.N417S|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000552789.1_Missense_Mutation_p.N417S|LTA4H_ENST00000548375.1_5'UTR	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	441					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N441S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	ATCAACTTGATTGAGAACATC	0.373																																						uc001ten.1																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(1321-1323)AAT>AGT		leukotriene A4 hydrolase							93.0	87.0	89.0					12																	96407023		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96407023T>C	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1322A>G	12.37:g.96407023T>C	ENSP00000228740:p.Asn441Ser					LTA4H_uc010suy.1_Missense_Mutation_p.N403S|LTA4H_uc010suz.1_Missense_Mutation_p.N403S|LTA4H_uc010sva.1_RNA|LTA4H_uc009ztj.2_RNA	p.N441S	NM_000895	NP_000886	P09960	LKHA4_HUMAN			14	1390	-			441					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.1322A>G	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809136	0.31961	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.04502	3.61;3.61;3.61	5.69	4.55	0.56014	.	0.171996	0.64402	N	0.000008	T	0.03263	0.0095	N	0.17764	0.52	0.43988	D	0.996683	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.37686	-0.9695	10	0.08599	T	0.76	-19.3136	10.6661	0.45731	0.0:0.0747:0.0:0.9253	.	417;417;441	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	S	441;417;417	ENSP00000228740:N441S;ENSP00000449958:N417S;ENSP00000395051:N417S	ENSP00000228740:N441S	N	-	2	0	LTA4H	94931154	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.078000	0.76821	0.999000	0.39023	0.459000	0.35465	AAT		PASS	0.373	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		22	94	22	94	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100811899	100811899	+	Missense_Mutation	SNP	T	T	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:100811899T>A	ENST00000323346.5	+	11	1703	c.1390T>A	c.(1390-1392)Tgt>Agt	p.C464S	SLC17A8_ENST00000392989.3_Missense_Mutation_p.C414S|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	464					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.C464S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGGAATGGTCTGTCCCCTCAT	0.502																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1390-1392)TGT>AGT		solute carrier family 17 (sodium-dependent							177.0	161.0	166.0					12																	100811899		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100811899T>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1390T>A	12.37:g.100811899T>A	ENSP00000316909:p.Cys464Ser					SLC17A8_uc009ztx.2_Missense_Mutation_p.C414S	p.C464S	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			11	1703	+			464			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1390T>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550484	0.86127	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.54866	0.55;1.14	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	N	0.16790	0.44	0.80722	D	1	P;P	0.46952	0.887;0.853	P;P	0.54026	0.74;0.707	T	0.42430	-0.9452	10	0.20519	T	0.43	.	15.9735	0.80040	0.0:0.0:0.0:1.0	.	464;414	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	S	464;414	ENSP00000316909:C464S;ENSP00000376715:C414S	ENSP00000316909:C464S	C	+	1	0	SLC17A8	99336030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.994000	0.88315	2.235000	0.73313	0.529000	0.55759	TGT		PASS	0.502	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		42	233	42	233	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101491677	101491677	+	Missense_Mutation	SNP	A	A	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:101491677A>C	ENST00000392977.3	+	21	2170	c.1960A>C	c.(1960-1962)Atg>Ctg	p.M654L	ANO4_ENST00000550015.1_Missense_Mutation_p.M174L|ANO4_ENST00000392979.3_Missense_Mutation_p.M619L|ANO4_ENST00000299222.9_Missense_Mutation_p.M174L			Q32M45	ANO4_HUMAN	anoctamin 4	654					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.M619L(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGGTATTATAATGgtgctaaa	0.403										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1960-1962)ATG>CTG		anoctamin 4							178.0	162.0	168.0					12																	101491677		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101491677A>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1960A>C	12.37:g.101491677A>C	ENSP00000376703:p.Met654Leu	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.M619L|ANO4_uc001thx.2_Missense_Mutation_p.M654L|ANO4_uc001thy.2_Missense_Mutation_p.M174L	p.M654L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			21	2532	+			654			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1960A>C		.	.	.	.	.	.	.	.	.	.	A	28.3	4.911849	0.92178	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	L	0.41236	1.265	0.80722	D	1	P;D;P	0.56968	0.882;0.978;0.897	P;D;D	0.79784	0.902;0.993;0.955	T	0.69997	-0.4993	10	0.52906	T	0.07	.	16.0993	0.81158	1.0:0.0:0.0:0.0	.	174;654;619	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	L	619;174;654;174	ENSP00000376705:M619L;ENSP00000299222:M174L;ENSP00000376703:M654L;ENSP00000450192:M174L	ENSP00000299222:M174L	M	+	1	0	ANO4	100015808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.109000	0.94291	2.207000	0.71202	0.459000	0.35465	ATG		PASS	0.403	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		32	237	32	237	---	---	---	---
ANAPC7	51434	broad.mit.edu	37	12	110834113	110834113	+	Silent	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:110834113C>A	ENST00000455511.3	-	2	348	c.348G>T	c.(346-348)gtG>gtT	p.V116V	ANAPC7_ENST00000450008.2_Silent_p.V116V|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.V82V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTGAAGGTCTCACTTTTGAAG	0.348																																						uc001tqo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(346-348)GTG>GTT		anaphase-promoting complex subunit 7 isoform a							117.0	100.0	106.0					12																	110834113		2203	4300	6503	SO:0001819	synonymous_variant	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110834113C>A	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.348G>T	12.37:g.110834113C>A						ANAPC7_uc001tqp.3_Silent_p.V116V	p.V116V	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN			2	349	-			116					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Silent	SNP	ENST00000455511.3	37	c.348G>T	CCDS9145.2																																																																																				PASS	0.348	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		27	134	27	134	---	---	---	---
SDSL	113675	broad.mit.edu	37	12	113874664	113874664	+	Silent	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:113874664T>C	ENST00000403593.4	+	7	1042	c.780T>C	c.(778-780)gcT>gcC	p.A260A	SDSL_ENST00000345635.4_Silent_p.A260A			Q96GA7	SDSL_HUMAN	serine dehydratase-like	260					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)	p.A260A(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						CTGTGAGCGCTGTGCAGCAGC	0.602																																						uc001tvi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(778-780)GCT>GCC		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						100.0	73.0	82.0					12																	113874664		2203	4300	6503	SO:0001819	synonymous_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113874664T>C	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.780T>C	12.37:g.113874664T>C						SDSL_uc009zwh.2_Silent_p.A260A	p.A260A	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN			8	990	+			260						Silent	SNP	ENST00000403593.4	37	c.780T>C	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	T	0.343	-0.949137	0.02304	.	.	ENSG00000139410	ENST00000546672	.	.	.	3.71	-7.42	0.01388	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58668	-0.7596	4	.	.	.	-11.7247	10.4014	0.44231	0.0:0.4734:0.2719:0.2547	.	.	.	.	P	156	.	.	L	+	2	0	SDSL	112359047	0.000000	0.05858	0.014000	0.15608	0.012000	0.07955	-4.164000	0.00282	-2.618000	0.00441	-0.464000	0.05259	CTG		PASS	0.602	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		4	37	4	37	---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118693275	118693275	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr12:118693275C>G	ENST00000392533.3	-	3	588	c.98G>C	c.(97-99)gGa>gCa	p.G33A	TAOK3_ENST00000419821.2_Missense_Mutation_p.G33A	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	33	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.G33A(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAAACTTCCATGTCCAAT	0.408																																						uc001twx.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(1)	6						c.(97-99)GGA>GCA		TAO kinase 3							102.0	104.0	103.0					12																	118693275		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118693275C>G	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.98G>C	12.37:g.118693275C>G	ENSP00000376317:p.Gly33Ala					TAOK3_uc001twy.3_Missense_Mutation_p.G33A	p.G33A	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			3	393	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		33			ATP (By similarity).|Protein kinase.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.98G>C	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625253	0.87560	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902;ENST00000542532	D;D;D;D;D;D	0.96334	-1.96;-1.96;-1.96;-1.96;-3.98;-3.98	4.69	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99410	1.0930	10	0.87932	D	0	.	17.8228	0.88655	0.0:1.0:0.0:0.0	.	33	Q9H2K8	TAOK3_HUMAN	A	33	ENSP00000416374:G33A;ENSP00000376317:G33A;ENSP00000443465:G33A;ENSP00000438820:G33A;ENSP00000444057:G33A;ENSP00000440315:G33A	ENSP00000376317:G33A	G	-	2	0	TAOK3	117177658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.445000	0.82738	0.655000	0.94253	GGA		PASS	0.408	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		24	148	24	148	---	---	---	---
WASF3	10810	broad.mit.edu	37	13	27255321	27255321	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:27255321G>A	ENST00000335327.5	+	8	1025	c.847G>A	c.(847-849)Gag>Aag	p.E283K	WASF3_ENST00000361042.4_Missense_Mutation_p.E280K	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	283					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)		p.E283K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCAGGCTGCGGAGCATGAGTA	0.682																																						uc001uqv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(847-849)GAG>AAG		WAS protein family, member 3							60.0	67.0	65.0					13																	27255321		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255321G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.847G>A	13.37:g.27255321G>A	ENSP00000335055:p.Glu283Lys					WASF3_uc001uqw.2_Missense_Mutation_p.E280K	p.E283K	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	1072	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	283					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.847G>A	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797490	0.50208	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.46063	0.88;0.91	5.94	5.94	0.96194	.	0.315210	0.38005	N	0.001842	T	0.38957	0.1060	L	0.57536	1.79	0.58432	D	0.999999	B;B	0.33379	0.41;0.077	B;B	0.27076	0.076;0.076	T	0.32295	-0.9912	10	0.07990	T	0.79	-32.8848	20.345	0.98787	0.0:0.0:1.0:0.0	.	280;283	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	K	280;283	ENSP00000354325:E280K;ENSP00000335055:E283K	ENSP00000335055:E283K	E	+	1	0	WASF3	26153321	1.000000	0.71417	0.838000	0.33150	0.019000	0.09904	7.354000	0.79424	2.817000	0.96982	0.555000	0.69702	GAG		PASS	0.682	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			52	163	52	163	---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28844960	28844960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:28844960C>T	ENST00000380958.3	+	13	2067	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*	PAN3_ENST00000282391.5_Nonsense_Mutation_p.R327*|PAN3_ENST00000399613.1_Nonsense_Mutation_p.R439*	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.R439*(1)|p.R639*(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTTGGCATGTCGAGTTATGGA	0.398																																						uc001urz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1477-1479)CGA>TGA		PABP1-dependent poly A-specific ribonuclease							197.0	183.0	188.0					13																	28844960		2203	4300	6503	SO:0001587	stop_gained	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28844960C>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1915C>T	13.37:g.28844960C>T	ENSP00000370345:p.Arg639*					PAN3_uc010tdo.1_Nonsense_Mutation_p.R639*|PAN3_uc001ury.2_Nonsense_Mutation_p.R327*|PAN3_uc001urx.2_Nonsense_Mutation_p.R439*	p.R493*	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	12	1485	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	639			Protein kinase.|Interaction with PAN2.			Nonsense_Mutation	SNP	ENST00000380958.3	37	c.1477C>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	37	6.077737	0.97262	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	.	.	.	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5377	14.069	0.64849	0.2967:0.7033:0.0:0.0	.	.	.	.	X	639;439;327	.	ENSP00000282391:R327X	R	+	1	2	PAN3	27742960	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.413000	0.44618	1.357000	0.45904	0.563000	0.77884	CGA		PASS	0.398	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		35	266	35	266	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29599209	29599209	+	Missense_Mutation	SNP	G	G	A	rs558234447		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:29599209G>A	ENST00000431530.3	+	1	462	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	125						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.R135Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGACCACGCGGAGTATTCAG	0.493																																						uc001usl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)CGG>CAG		hypothetical protein LOC23281 isoform a							101.0	102.0	102.0					13																	29599209		2058	4204	6262	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599209G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.404G>A	13.37:g.29599209G>A	ENSP00000392057:p.Arg135Gln						p.R135Q	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	462	+			125					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.404G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	9.513	1.106295	0.20632	.	.	ENSG00000132938	ENST00000431530	T	0.12774	2.65	5.31	-3.13	0.05266	.	1.592600	0.03926	N	0.284417	T	0.08044	0.0201	N	0.17474	0.49	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.35724	-0.9777	9	.	.	.	.	7.1114	0.25392	0.4726:0.0:0.4191:0.1084	.	125	Q5JR59	MTUS2_HUMAN	Q	135	ENSP00000392057:R135Q	.	R	+	2	0	MTUS2	28497209	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.299000	0.19138	-0.574000	0.05990	-0.136000	0.14681	CGG		PASS	0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		8	141	8	141	---	---	---	---
SMAD9	4093	broad.mit.edu	37	13	37446942	37446942	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:37446942C>T	ENST00000399275.2	-	2	662	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	SMAD9_ENST00000350148.5_Missense_Mutation_p.A175T|SMAD9_ENST00000379826.4_Missense_Mutation_p.A175T			O15198	SMAD9_HUMAN	SMAD family member 9	175					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.A175T(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGATAGGTGGCGTTGTGTGGC	0.622																																						uc001uvw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(523-525)GCC>ACC		SMAD family member 9 isoform a							162.0	137.0	145.0					13																	37446942		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37446942C>T		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.523G>A	13.37:g.37446942C>T	ENSP00000382216:p.Ala175Thr					SMAD9_uc001uvx.2_Missense_Mutation_p.A175T|SMAD9_uc010tep.1_Missense_Mutation_p.A5T	p.A175T	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	3	866	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	175					A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.523G>A	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127877	0.56721	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94232	-3.38;-3.36;-3.38	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	L	0.42245	1.32	0.80722	D	1	B;P	0.47034	0.358;0.889	B;B	0.41332	0.131;0.354	D	0.88223	0.2898	10	0.15066	T	0.55	.	18.17	0.89742	0.0:1.0:0.0:0.0	.	175;175	O15198-2;O15198	.;SMAD9_HUMAN	T	175	ENSP00000382216:A175T;ENSP00000239885:A175T;ENSP00000369154:A175T	ENSP00000239885:A175T	A	-	1	0	SMAD9	36344942	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.865000	0.69583	2.600000	0.87896	0.563000	0.77884	GCC		PASS	0.622	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		10	80	10	80	---	---	---	---
ELF1	1997	broad.mit.edu	37	13	41533078	41533078	+	Silent	SNP	G	G	A	rs370759144		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:41533078G>A	ENST00000239882.3	-	3	461	c.147C>T	c.(145-147)gcC>gcT	p.A49A	ELF1_ENST00000442101.1_Silent_p.A49A|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	49					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A49A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AGGCTAGACCGGCATAACTAT	0.448																																						uc001uxs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(145-147)GCC>GCT		E74-like factor 1 (ets domain transcription		G	,	1,4405	2.1+/-5.4	0,1,2202	181.0	140.0	154.0		147,147	-11.7	0.0	13		154	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ELF1	NM_001145353.1,NM_172373.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	49/596,49/620	41533078	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41533078G>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.147C>T	13.37:g.41533078G>A						ELF1_uc010tfc.1_Silent_p.A49A|ELF1_uc010acd.2_5'UTR	p.A49A	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	3	520	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	49					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Silent	SNP	ENST00000239882.3	37	c.147C>T	CCDS9374.1																																																																																				PASS	0.448	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		17	163	17	163	---	---	---	---
EPSTI1	94240	broad.mit.edu	37	13	43491753	43491753	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:43491753C>G	ENST00000398762.3	-	9	697	c.698G>C	c.(697-699)aGc>aCc	p.S233T	EPSTI1_ENST00000313640.7_Missense_Mutation_p.S233T|EPSTI1_ENST00000476830.2_5'Flank|EPSTI1_ENST00000313624.7_Missense_Mutation_p.S222T			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	233								p.S233T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GTAAGCCCAGCTTCTGGCCTG	0.388																																						uc001uyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(697-699)AGC>ACC		epithelial stromal interaction 1 isoform 1							183.0	174.0	177.0					13																	43491753		2203	4300	6503	SO:0001583	missense	94240							g.chr13:43491753C>G	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.698G>C	13.37:g.43491753C>G	ENSP00000381746:p.Ser233Thr					EPSTI1_uc001uyx.1_Missense_Mutation_p.S222T	p.S233T	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	9	774	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	233					Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.698G>C	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581431	0.46006	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.22134	1.97	4.85	2.2	0.27929	.	0.379299	0.28436	N	0.015353	T	0.18215	0.0437	L	0.60455	1.87	0.19945	N	0.999947	B;B	0.29301	0.241;0.241	B;B	0.28784	0.094;0.094	T	0.15037	-1.0451	10	0.49607	T	0.09	-3.3461	5.7192	0.17978	0.1599:0.668:0.0:0.1721	.	222;233	Q96J88-2;Q96J88-3	.;.	T	233;222;233	ENSP00000318982:S233T	ENSP00000318643:S222T	S	-	2	0	EPSTI1	42389753	0.744000	0.28250	0.307000	0.25127	0.318000	0.28184	1.113000	0.31184	0.773000	0.33404	-0.122000	0.15005	AGC		PASS	0.388	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		35	193	35	193	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61985578	61985578	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:61985578G>C	ENST00000409186.1	-	5	4759	c.2654C>G	c.(2653-2655)tCt>tGt	p.S885C	PCDH20_ENST00000409204.4_Missense_Mutation_p.S885C			Q8N6Y1	PCD20_HUMAN	protocadherin 20	885					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S858C(1)|p.S885C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGCATACAAGACACAGATTC	0.403																																						uc001vid.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2653-2655)TCT>TGT		protocadherin 20							95.0	82.0	86.0					13																	61985578		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985578G>C	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2654C>G	13.37:g.61985578G>C	ENSP00000386653:p.Ser885Cys					PCDH20_uc010thj.1_Missense_Mutation_p.S885C	p.S885C	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	3018	-		Breast(118;0.195)|Prostate(109;0.229)	858			Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2654C>G	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805319	0.50315	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.57595	0.39;0.39	6.07	6.07	0.98685	.	0.092939	0.47852	D	0.000201	T	0.48537	0.1505	L	0.27053	0.805	0.25098	N	0.990801	D	0.56287	0.975	P	0.44990	0.466	T	0.46400	-0.9194	10	0.45353	T	0.12	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	885	A8K1K9	.	C	885;885;631	ENSP00000387250:S885C;ENSP00000386653:S885C	ENSP00000351500:S631C	S	-	2	0	PCDH20	60883579	1.000000	0.71417	0.768000	0.31515	0.989000	0.77384	4.251000	0.58778	2.885000	0.99019	0.655000	0.94253	TCT		PASS	0.403	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		14	52	14	52	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84455289	84455289	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:84455289G>A	ENST00000377084.2	-	1	1239	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	118					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.I118I(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAAAAGACTTGATCTTGTTGT	0.468																																						uc001vlk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(352-354)ATC>ATT		slit and trk like 1 protein precursor							68.0	72.0	71.0					13																	84455289		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84455289G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.354C>T	13.37:g.84455289G>A							p.I118I	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1240	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	118			Extracellular (Potential).|LRR 3.		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.354C>T	CCDS9464.1																																																																																				PASS	0.468	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		29	173	29	173	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88330396	88330396	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:88330396G>T	ENST00000325089.6	+	2	2972	c.2753G>T	c.(2752-2754)aGc>aTc	p.S918I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S677I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	918					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.S918I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGCTCTACAGCCCCCCGAGT	0.542																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2752-2754)AGC>ATC		SLIT and NTRK-like family, member 5 precursor							82.0	90.0	87.0					13																	88330396		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88330396G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2753G>T	13.37:g.88330396G>T	ENSP00000366283:p.Ser918Ile					SLITRK5_uc010tic.1_Missense_Mutation_p.S677I	p.S918I	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2972	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		918			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2753G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397797	0.42512	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.65364	-0.15;0.23	5.77	4.92	0.64577	.	0.110408	0.64402	D	0.000010	T	0.55114	0.1900	L	0.43923	1.385	0.45172	D	0.998181	P;B	0.44946	0.846;0.112	B;B	0.43251	0.413;0.037	T	0.53429	-0.8440	9	.	.	.	-19.7955	11.8359	0.52323	0.0833:0.0:0.9167:0.0	.	677;918	B4DSH5;O94991	.;SLIK5_HUMAN	I	918;677	ENSP00000366283:S918I;ENSP00000442244:S677I	.	S	+	2	0	SLITRK5	87128397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.186000	0.65082	2.724000	0.93272	0.561000	0.74099	AGC		PASS	0.542	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			69	321	69	321	---	---	---	---
OXGR1	27199	broad.mit.edu	37	13	97639439	97639439	+	Missense_Mutation	SNP	A	A	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:97639439A>C	ENST00000298440.1	-	4	818	c.575T>G	c.(574-576)cTc>cGc	p.L192R	OXGR1_ENST00000543457.1_Missense_Mutation_p.L192R	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	192					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L192R(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AATAGTATTGAGTTCATCCGA	0.448																																						uc001vmx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(574-576)CTC>CGC		oxoglutarate (alpha-ketoglutarate) receptor 1							162.0	136.0	145.0					13																	97639439		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639439A>C	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.575T>G	13.37:g.97639439A>C	ENSP00000298440:p.Leu192Arg					OXGR1_uc010afr.1_Missense_Mutation_p.L192R	p.L192R	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	819	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		192			Extracellular (Potential).		Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.575T>G	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758800	0.49468	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.37235	1.21;1.21	5.87	5.87	0.94306	GPCR, rhodopsin-like superfamily (1);	0.254426	0.33534	N	0.004808	T	0.47284	0.1437	L	0.31371	0.925	0.25081	N	0.990927	D	0.71674	0.998	D	0.68943	0.961	T	0.41251	-0.9519	10	0.30854	T	0.27	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	192	Q96P68	OXGR1_HUMAN	R	192	ENSP00000298440:L192R;ENSP00000438800:L192R	ENSP00000298440:L192R	L	-	2	0	OXGR1	96437440	0.995000	0.38212	0.980000	0.43619	0.726000	0.41606	3.680000	0.54641	2.371000	0.80710	0.533000	0.62120	CTC		PASS	0.448	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		24	145	24	145	---	---	---	---
TPP2	7174	broad.mit.edu	37	13	103326657	103326657	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr13:103326657C>T	ENST00000376065.4	+	27	3393	c.3357C>T	c.(3355-3357)acC>acT	p.T1119T	TPP2_ENST00000376052.3_Silent_p.T1132T|TPP2_ENST00000466153.1_3'UTR	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1119					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.T1119T(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAAATCCACCCTCGTAGATG	0.388																																						uc001vpi.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(3355-3357)ACC>ACT		tripeptidyl peptidase II							86.0	82.0	83.0					13																	103326657		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103326657C>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3357C>T	13.37:g.103326657C>T							p.T1119T	NM_003291	NP_003282	P29144	TPP2_HUMAN			27	3460	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1119					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.3357C>T	CCDS9502.1																																																																																				PASS	0.388	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			12	70	12	70	---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724625	38724625	+	Silent	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr14:38724625G>T	ENST00000342213.2	-	1	949	c.603C>A	c.(601-603)gcC>gcA	p.A201A		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	201						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A201A(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AGTCCAGAGCGGCGCTGTGCA	0.642																																						uc001wum.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(601-603)GCC>GCA		C-type lectin domain family 14, member A							50.0	53.0	52.0					14																	38724625		2198	4295	6493	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724625G>T		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.603C>A	14.37:g.38724625G>T							p.A201A	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	950	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		201			Extracellular (Potential).		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.603C>A	CCDS9667.1																																																																																				PASS	0.642	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		44	262	44	262	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42360802	42360802	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr14:42360802C>A	ENST00000298119.4	+	4	2924	c.1735C>A	c.(1735-1737)Caa>Aaa	p.Q579K	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	579						integral component of membrane (GO:0016021)		p.Q579K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGCTCAAATACAAGGCTGTAG	0.453										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1735-1737)CAA>AAA		leucine rich repeat and fibronectin type III							100.0	91.0	94.0					14																	42360802		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360802C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1735C>A	14.37:g.42360802C>A	ENSP00000298119:p.Gln579Lys	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.Q579K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2933	+			579			Cytoplasmic (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1735C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	9.372	1.070879	0.20147	.	.	ENSG00000165379	ENST00000298119	T	0.45276	0.9	5.75	5.75	0.90469	.	0.000000	0.52532	D	0.000065	T	0.22437	0.0541	N	0.08118	0	0.80722	D	1	B	0.30104	0.268	B	0.22386	0.039	T	0.12319	-1.0552	10	0.08837	T	0.75	.	17.4344	0.87547	0.0:1.0:0.0:0.0	.	579	Q96NI6	LRFN5_HUMAN	K	579	ENSP00000298119:Q579K	ENSP00000298119:Q579K	Q	+	1	0	LRFN5	41430552	1.000000	0.71417	0.964000	0.40570	0.597000	0.36814	5.728000	0.68531	2.716000	0.92895	0.650000	0.86243	CAA		PASS	0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		9	116	9	116	---	---	---	---
FRMD6	122786	broad.mit.edu	37	14	52192507	52192507	+	Silent	SNP	G	G	C	rs147239419		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr14:52192507G>C	ENST00000344768.5	+	13	1699	c.1503G>C	c.(1501-1503)gtG>gtC	p.V501V	FRMD6_ENST00000554167.1_Silent_p.V424V|FRMD6_ENST00000356218.4_Silent_p.V493V|FRMD6_ENST00000553556.1_Silent_p.V143V|FRMD6_ENST00000395718.2_Silent_p.V493V|RNU6-301P_ENST00000384277.1_RNA			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	501					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.V493V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGTTGATTGTGAAAGAAATTG	0.358																																						uc001wzd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1501-1503)GTG>GTC		FERM domain containing 6							111.0	112.0	112.0					14																	52192507		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52192507G>C	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1503G>C	14.37:g.52192507G>C						FRMD6_uc001wzb.2_Silent_p.V493V|FRMD6_uc001wzc.2_Silent_p.V493V|FRMD6_uc001wze.2_Silent_p.V424V|FRMD6_uc001wzf.2_Silent_p.V194V|FRMD6_uc001wzg.2_Silent_p.V143V	p.V501V	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			13	1788	+	all_epithelial(31;0.0163)|Breast(41;0.089)		501					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.1503G>C	CCDS58318.1																																																																																				PASS	0.358	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		16	136	16	136	---	---	---	---
TBPL2	387332	broad.mit.edu	37	14	55903374	55903374	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr14:55903374C>T	ENST00000247219.5	-	2	583	c.513G>A	c.(511-513)gaG>gaA	p.E171E		NM_199047.2	NP_950248.1			TATA box binding protein like 2									p.E171E(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						AGTTTGGTTTCTCAGGAGAGG	0.493																																						uc001xby.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(511-513)GAG>GAA		TATA box binding protein like 2							163.0	152.0	156.0					14																	55903374		2203	4300	6503	SO:0001819	synonymous_variant	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55903374C>T	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.513G>A	14.37:g.55903374C>T							p.E171E	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN			2	513	-			171						Silent	SNP	ENST00000247219.5	37	c.513G>A	CCDS9724.1																																																																																				PASS	0.493	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		61	93	61	93	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68228958	68228958	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr14:68228958C>G	ENST00000347230.4	-	34	6469	c.6331G>C	c.(6331-6333)Gag>Cag	p.E2111Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E2111Q|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2111					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E2111Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTAGGTACTCAACCACATCC	0.542																																						uc001xka.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)	11						c.(6331-6333)GAG>CAG		zinc finger, FYVE domain containing 26							104.0	85.0	91.0					14																	68228958		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68228958C>G	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6331G>C	14.37:g.68228958C>G	ENSP00000251119:p.Glu2111Gln					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_5'Flank|ZFYVE26_uc001xkc.3_Missense_Mutation_p.E2111Q	p.E2111Q	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	34	6470	-			2111					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.6331G>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563724	0.27915	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26810	1.85;1.71	5.36	5.36	0.76844	.	0.188984	0.46758	D	0.000265	T	0.06735	0.0172	N	0.00554	-1.385	0.33643	D	0.607533	B;B	0.25667	0.131;0.028	B;B	0.21151	0.033;0.007	T	0.18429	-1.0337	10	0.02654	T	1	-11.7035	13.7087	0.62654	0.0:0.7183:0.2817:0.0	.	2111;2111	G3V2D8;Q68DK2	.;ZFY26_HUMAN	Q	2111;2090;2111	ENSP00000251119:E2111Q;ENSP00000450603:E2111Q	ENSP00000251119:E2111Q	E	-	1	0	ZFYVE26	67298711	1.000000	0.71417	0.992000	0.48379	0.799000	0.45148	5.759000	0.68785	2.515000	0.84797	0.655000	0.94253	GAG		PASS	0.542	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		25	57	25	57	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72054674	72054674	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr14:72054674G>A	ENST00000555818.1	+	2	433	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.V29I|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.V29I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	29					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.V29I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CACCCCCAAAGTCCACACTGA	0.527																																						uc001xms.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(85-87)GTC>ATC		signal-induced proliferation-associated 1 like							90.0	90.0	90.0					14																	72054674		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72054674G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.85G>A	14.37:g.72054674G>A	ENSP00000450832:p.Val29Ile					SIPA1L1_uc001xmt.2_Missense_Mutation_p.V29I|SIPA1L1_uc001xmu.2_Missense_Mutation_p.V29I|SIPA1L1_uc001xmv.2_Missense_Mutation_p.V29I	p.V29I	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	433	+			29					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.85G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344838	0.41498	.	.	ENSG00000197555	ENST00000557151;ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.76186	-1.0;-1.0;-1.0	5.42	5.42	0.78866	.	0.212508	0.42172	D	0.000752	T	0.64034	0.2562	N	0.22421	0.69	0.80722	D	1	B;B;B	0.32918	0.39;0.317;0.39	B;B;B	0.33454	0.074;0.164;0.074	T	0.60141	-0.7321	10	0.21014	T	0.42	-25.8618	19.566	0.95393	0.0:0.0:1.0:0.0	.	29;29;29	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	I	29	ENSP00000370630:V29I;ENSP00000450832:V29I;ENSP00000351352:V29I	ENSP00000351352:V29I	V	+	1	0	SIPA1L1	71124427	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.202000	0.65169	2.687000	0.91594	0.655000	0.94253	GTC		PASS	0.527	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		61	145	61	145	---	---	---	---
SYNDIG1L	646658	broad.mit.edu	37	14	74876048	74876048	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr14:74876048C>T	ENST00000554823.1	-	1	461	c.400G>A	c.(400-402)Gac>Aac	p.D134N	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.D134N			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	134					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D134N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TCCTCCTGGTCATCCTCCTGG	0.512																																						uc001xpx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)GAC>AAC		transmembrane protein 90A							90.0	96.0	94.0					14																	74876048		2068	4193	6261	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74876048C>T		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.400G>A	14.37:g.74876048C>T	ENSP00000450439:p.Asp134Asn						p.D134N	NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00159)	2	648	-			134						Missense_Mutation	SNP	ENST00000554823.1	37	c.400G>A	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	C	7.848	0.723293	0.15439	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.95171	-3.63;-3.63	4.63	2.53	0.30540	.	0.503112	0.15534	N	0.257334	D	0.85500	0.5711	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.76375	-0.2982	10	0.56958	D	0.05	-13.8979	6.4029	0.21648	0.0:0.6806:0.0:0.3194	.	134	A6NDD5	SYN1L_HUMAN	N	134	ENSP00000331474:D134N;ENSP00000450439:D134N	ENSP00000331474:D134N	D	-	1	0	SYNDIG1L	73945801	0.959000	0.32827	0.022000	0.16811	0.193000	0.23685	3.343000	0.52167	0.404000	0.25506	0.467000	0.42956	GAC		PASS	0.512	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		119	238	119	238	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23932119	23932119	+	Silent	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr15:23932119G>T	ENST00000331837.4	-	1	331	c.246C>A	c.(244-246)gcC>gcA	p.A82A		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	82					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A82A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCGCGCTCGGGGCCTGGTGGG	0.766									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)GCC>GCA		necdin							6.0	7.0	6.0					15																	23932119		1839	3686	5525	SO:0001819	synonymous_variant	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932119G>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.246C>A	15.37:g.23932119G>T							p.A82A	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	332	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	82					B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.246C>A	CCDS10014.1																																																																																				PASS	0.766	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		10	17	10	17	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24922909	24922909	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr15:24922909C>T	ENST00000329468.2	+	1	2369	c.1895C>T	c.(1894-1896)aCc>aTc	p.T632I		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	632					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T632I(1)									CACAATACCACCCCAAGTTTT	0.498																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1894-1896)ACC>ATC		hypothetical protein LOC23742							88.0	103.0	98.0					15																	24922909		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922909C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1895C>T	15.37:g.24922909C>T	ENSP00000333735:p.Thr632Ile						p.T632I	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2369	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	632						Missense_Mutation	SNP	ENST00000329468.2	37	c.1895C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.823	1.186434	0.21870	.	.	ENSG00000185823	ENST00000329468	T	0.08546	3.08	1.86	-1.36	0.09085	.	.	.	.	.	T	0.05823	0.0152	L	0.38175	1.15	0.09310	N	1	B	0.19817	0.039	B	0.14023	0.01	T	0.40156	-0.9578	9	0.66056	D	0.02	.	1.8359	0.03140	0.2769:0.3672:0.0:0.3559	.	632	Q9NZP6	CO002_HUMAN	I	632	ENSP00000333735:T632I	ENSP00000333735:T632I	T	+	2	0	C15orf2	22474002	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	0.302000	0.19192	-0.395000	0.07715	0.205000	0.17691	ACC		PASS	0.498	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		8	179	8	179	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33359183	33359183	+	Intron	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr15:33359183C>G	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Missense_Mutation_p.K301N|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.K301N			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K301N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGTCCCCATCCTTTGGTTTAA	0.502																																						uc001zhf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(901-903)AAG>AAC		formin 1							57.0	58.0	57.0					15																	33359183		1967	4159	6126	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359183C>G	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1908G>C	15.37:g.33359183C>G						FMN1_uc001zhg.2_Missense_Mutation_p.K301N	p.K301N	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	903	-		all_lung(180;1.14e-07)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.903G>C		.	.	.	.	.	.	.	.	.	.	C	14.65	2.597495	0.46318	.	.	ENSG00000248905	ENST00000334528	T	0.52983	0.64	5.7	5.7	0.88788	.	.	.	.	.	T	0.58666	0.2138	.	.	.	.	.	.	D;D	0.56746	0.977;0.96	P;P	0.55923	0.787;0.663	T	0.71461	-0.4586	7	0.72032	D	0.01	.	9.8975	0.41327	0.1382:0.7905:0.0:0.0712	.	301;301	Q68DA7-3;Q68DA7-5	.;.	N	301	ENSP00000333950:K301N	ENSP00000333950:K301N	K	-	3	2	FMN1	31146475	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.541000	0.36126	2.703000	0.92315	0.655000	0.94253	AAG		PASS	0.502	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		16	59	16	59	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34380305	34380305	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr15:34380305T>C	ENST00000256545.4	-	4	633	c.525A>G	c.(523-525)atA>atG	p.I175M		NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	175						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I175M(1)									GAAGCACAAATATCAATAAAG	0.353																																						uc001zhm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)ATA>ATG		chromosome 15 open reading frame 24 precursor							73.0	69.0	71.0					15																	34380305		2201	4298	6499	SO:0001583	missense	56851					cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding	g.chr15:34380305T>C	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.525A>G	15.37:g.34380305T>C	ENSP00000256545:p.Ile175Met					C15orf24_uc001zhn.2_Missense_Mutation_p.I58M	p.I175M	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)	4	538	-		all_lung(180;1.76e-08)	175			Helical; (Potential).		B2RC00|Q96ED5	Missense_Mutation	SNP	ENST00000256545.4	37	c.525A>G	CCDS10032.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	11.73|11.73|11.73	1.725289|1.725289|1.725289	0.30593|0.30593|0.30593	.|.|.	.|.|.	ENSG00000134153|ENSG00000134153|ENSG00000134153	ENST00000256545|ENST00000527822|ENST00000528949	.|.|.	.|.|.	.|.|.	5.54|5.54|5.54	4.37|4.37|4.37	0.52481|0.52481|0.52481	.|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.53658|0.53658|0.53658	0.1810|0.1810|0.1810	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	D|.|.	0.71674|.|.	0.998|.|.	D|.|.	0.78314|.|.	0.991|.|.	T|T|T	0.48843|0.48843|0.48843	-0.8999|-0.8999|-0.8999	9|7|5	0.17369|0.16896|.	T|T|.	0.5|0.51|.	-31.4257|-31.4257|-31.4257	12.4882|12.4882|12.4882	0.55885|0.55885|0.55885	0.0:0.0:0.3342:0.6658|0.0:0.0:0.3342:0.6658|0.0:0.0:0.3342:0.6658	.|.|.	175|.|.	Q9NPA0|.|.	CO024_HUMAN|.|.	M|V|C	175|125|111	.|.|.	ENSP00000256545:I175M|ENSP00000434292:I125V|.	I|I|Y	-|-|-	3|1|2	3|0|0	C15orf24|C15orf24|C15orf24	32167597|32167597|32167597	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	2.323000|2.323000|2.323000	0.43823|0.43823|0.43823	2.330000|2.330000|2.330000	0.79161|0.79161|0.79161	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	ATA|ATT|TAT		PASS	0.353	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		11	35	11	35	---	---	---	---
SPRED1	161742	broad.mit.edu	37	15	38591612	38591612	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr15:38591612G>C	ENST00000299084.4	+	2	931	c.71G>C	c.(70-72)cGa>cCa	p.R24P	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	24	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.R24P(1)|p.R24Q(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTGATGACCCGAGATGACTCA	0.458									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	uc001zka.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(70-72)CGA>CCA		sprouty-related protein 1 with EVH-1 domain							125.0	115.0	118.0					15																	38591612		2200	4297	6497	SO:0001583	missense	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38591612G>C	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.71G>C	15.37:g.38591612G>C	ENSP00000299084:p.Arg24Pro						p.R24P	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	406	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	24			WH1.		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.71G>C	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068636	0.93950	.	.	ENSG00000166068	ENST00000299084	D	0.86432	-2.12	5.72	5.72	0.89469	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.94003	0.8079	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93611	0.6939	10	0.54805	T	0.06	-10.0701	19.8868	0.96915	0.0:0.0:1.0:0.0	.	24	Q7Z699	SPRE1_HUMAN	P	24	ENSP00000299084:R24P	ENSP00000299084:R24P	R	+	2	0	SPRED1	36378904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.709000	0.92574	0.655000	0.94253	CGA		PASS	0.458	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			21	99	21	99	---	---	---	---
SPRED1	161742	broad.mit.edu	37	15	38614556	38614556	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr15:38614556G>A	ENST00000299084.4	+	3	1182	c.322G>A	c.(322-324)Gat>Aat	p.D108N	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	108	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.D108N(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAGTCCTGCTGATGCTAGGGC	0.343									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	uc001zka.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(322-324)GAT>AAT		sprouty-related protein 1 with EVH-1 domain							145.0	149.0	148.0					15																	38614556		2200	4297	6497	SO:0001583	missense	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38614556G>A	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.322G>A	15.37:g.38614556G>A	ENSP00000299084:p.Asp108Asn						p.D108N	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	657	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	108			WH1.		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.322G>A	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577403	0.96565	.	.	ENSG00000166068	ENST00000299084	D	0.89681	-2.55	5.71	5.71	0.89125	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95643	0.8700	10	0.87932	D	0	-14.7225	19.8564	0.96761	0.0:0.0:1.0:0.0	.	108	Q7Z699	SPRE1_HUMAN	N	108	ENSP00000299084:D108N	ENSP00000299084:D108N	D	+	1	0	SPRED1	36401848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.704000	0.92352	0.585000	0.79938	GAT		PASS	0.343	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			8	180	8	180	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59179632	59179632	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr15:59179632C>G	ENST00000380516.2	-	18	2570	c.2483G>C	c.(2482-2484)aGa>aCa	p.R828T	SLTM_ENST00000536328.1_Missense_Mutation_p.R397T|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	828	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R828T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGCTCATTTCTTCTGGAGTC	0.468																																						uc002afp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2482-2484)AGA>ACA		modulator of estrogen induced transcription							216.0	194.0	201.0					15																	59179632		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179632C>G	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2483G>C	15.37:g.59179632C>G	ENSP00000369887:p.Arg828Thr					SLTM_uc002afn.2_Missense_Mutation_p.R370T|SLTM_uc002afo.2_Missense_Mutation_p.R810T|SLTM_uc002afq.2_Missense_Mutation_p.R397T|SLTM_uc010bgd.2_Missense_Mutation_p.R397T	p.R828T	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			18	2571	-			828			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2483G>C	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012576	0.93346	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.22743	1.94	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000009	T	0.42966	0.1226	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.99	T	0.05683	-1.0870	10	0.28530	T	0.3	.	19.2184	0.93786	0.0:1.0:0.0:0.0	.	828;397	Q9NWH9;A8K5V8	SLTM_HUMAN;.	T	828;394;397	ENSP00000369887:R828T	ENSP00000369887:R828T	R	-	2	0	SLTM	56966924	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.906000	0.75719	2.523000	0.85059	0.563000	0.77884	AGA		PASS	0.468	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		51	177	51	177	---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65772652	65772652	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr15:65772652C>T	ENST00000341861.5	-	10	2832	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	DPP8_ENST00000339244.5_Intron|DPP8_ENST00000559233.1_Missense_Mutation_p.D418N|DPP8_ENST00000321147.6_Missense_Mutation_p.D418N|DPP8_ENST00000358939.4_Missense_Mutation_p.D402N|DPP8_ENST00000300141.6_Missense_Mutation_p.D402N|DPP8_ENST00000321118.7_Missense_Mutation_p.D418N	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	418					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.D402N(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCATAACATCATCTTCTACT	0.393																																						uc002aov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1252-1254)GAT>AAT		dipeptidyl peptidase 8 isoform 1							98.0	89.0	92.0					15																	65772652		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65772652C>T	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1252G>A	15.37:g.65772652C>T	ENSP00000339208:p.Asp418Asn					DPP8_uc002aow.2_Missense_Mutation_p.D418N|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.D402N|DPP8_uc002aoy.2_Missense_Mutation_p.D418N|DPP8_uc002aoz.2_Missense_Mutation_p.D402N|DPP8_uc010bhj.2_Missense_Mutation_p.D418N|DPP8_uc002apa.2_Missense_Mutation_p.D315N|DPP8_uc010bhk.1_Intron	p.D418N	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			10	2830	-			418					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.1252G>A	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.304982	0.81247	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000395652	T;T	0.46819	0.86;0.86	5.67	5.67	0.87782	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	N	0.21282	0.65	0.80722	D	1	B;D;B;B	0.67145	0.036;0.996;0.036;0.044	B;D;B;B	0.79784	0.021;0.993;0.016;0.036	T	0.42882	-0.9425	10	0.12103	T	0.63	-28.5392	19.7612	0.96319	0.0:1.0:0.0:0.0	.	402;402;418;418	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	N	418;402;402;418;418;418	ENSP00000339208:D418N;ENSP00000300141:D402N	ENSP00000300141:D402N	D	-	1	0	DPP8	63559705	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.967000	0.76079	2.670000	0.90874	0.655000	0.94253	GAT		PASS	0.393	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		21	55	21	55	---	---	---	---
PDIA2	64714	broad.mit.edu	37	16	335575	335575	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:335575G>C	ENST00000219406.6	+	7	1009	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Missense_Mutation_p.E328Q	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	331					cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)	p.E331Q(1)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACTCAAGGCTGAGGCAGCCCC	0.612																																						uc002cgn.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(991-993)GAG>CAG		protein disulfide isomerase A2 precursor							69.0	85.0	79.0					16																	335575		2166	4255	6421	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:335575G>C	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.991G>C	16.37:g.335575G>C	ENSP00000219406:p.Glu331Gln					PDIA2_uc010bqt.1_Missense_Mutation_p.E176Q|PDIA2_uc002cgo.1_Missense_Mutation_p.E331Q	p.E331Q	NM_006849	NP_006840	Q13087	PDIA2_HUMAN			12	2099	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	331					A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.991G>C	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	g	9.320	1.057786	0.19907	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312	T;T	0.30981	1.51;1.51	4.13	0.693	0.18056	Thioredoxin-like fold (1);	1.092450	0.06926	N	0.810230	T	0.35451	0.0932	M	0.78344	2.41	0.09310	N	1	B	0.23540	0.087	B	0.30572	0.117	T	0.45731	-0.9241	10	0.59425	D	0.04	.	3.911	0.09204	0.1052:0.4894:0.253:0.1524	.	331	Q13087	PDIA2_HUMAN	Q	331;300;328	ENSP00000219406:E331Q;ENSP00000384410:E328Q	ENSP00000219406:E331Q	E	+	1	0	PDIA2	275576	0.000000	0.05858	0.714000	0.30535	0.671000	0.39405	0.439000	0.21575	0.378000	0.24764	0.486000	0.48141	GAG		PASS	0.612	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		22	152	22	152	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	424308	424308	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:424308G>C	ENST00000431232.2	-	10	1828	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Silent_p.L363L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	556					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)		p.L556L(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CCAGGAACATGAGGTTGCTGA	0.657											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002cgu.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|pancreas(1)	3						c.(1666-1668)CTC>CTG		transmembrane protein 8 (five membrane-spanning							80.0	82.0	81.0					16																	424308		2199	4299	6498	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:424308G>C	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1668C>G	16.37:g.424308G>C			OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	588	TMEM8A_uc002cgv.3_Silent_p.L363L	p.L556L	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN			10	1797	-			556			Helical; (Potential).		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.1668C>G	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	G	8.207	0.799474	0.16397	.	.	ENSG00000129925	ENST00000424078	.	.	.	3.6	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.441	12.9302	0.58282	0.0:0.3323:0.6677:0.0	.	.	.	.	X	63	.	.	S	-	2	0	TMEM8A	364309	0.059000	0.20769	0.909000	0.35828	0.970000	0.65996	0.356000	0.20181	0.275000	0.22094	0.563000	0.77884	TCA		PASS	0.657	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		4	154	4	154	---	---	---	---
ZSCAN10	84891	broad.mit.edu	37	16	3139147	3139147	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:3139147C>T	ENST00000252463.2	-	5	2210	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R626H|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R369H|RNU1-22P_ENST00000363334.1_RNA|RP11-473M20.9_ENST00000571404.1_lincRNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	708					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R708H(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGGGAGTTGCGGCTGAAGCT	0.706																																						uc002ctv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2122-2124)CGC>CAC		zinc finger and SCAN domain containing 10							12.0	13.0	13.0					16																	3139147		2139	4227	6366	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139147C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.2123G>A	16.37:g.3139147C>T	ENSP00000252463:p.Arg708His					ZSCAN10_uc002cty.1_Missense_Mutation_p.R369H|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R626H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R636H	p.R708H	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	2211	-			708			C2H2-type 14.		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.2123G>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609429	0.66558	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.56941	0.43	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000075	T	0.61527	0.2354	L	0.38649	1.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.993;0.999;0.949	T	0.58381	-0.7646	10	0.33141	T	0.24	-50.2729	13.683	0.62499	0.0:1.0:0.0:0.0	.	369;641;708	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	H	641;708	ENSP00000252463:R708H	ENSP00000252463:R708H	R	-	2	0	ZSCAN10	3079148	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.923000	0.04000	2.291000	0.77112	0.561000	0.74099	CGC		PASS	0.706	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		3	26	3	26	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4935007	4935007	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:4935007C>G	ENST00000345988.2	-	22	3738	c.3649G>C	c.(3649-3651)Gag>Cag	p.E1217Q	PPL_ENST00000590782.2_Missense_Mutation_p.E1215Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1217					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.E1217Q(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGAGGGCCTCCAGCTCACTC	0.597																																						uc002cyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3649-3651)GAG>CAG		periplakin							58.0	54.0	55.0					16																	4935007		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935007C>G	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3649G>C	16.37:g.4935007C>G	ENSP00000340510:p.Glu1217Gln						p.E1217Q	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	3739	-			1217			Potential.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3649G>C	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028157	0.35797	.	.	ENSG00000118898	ENST00000345988	T	0.51817	0.69	5.63	4.65	0.58169	.	0.138719	0.47455	D	0.000227	T	0.50154	0.1599	L	0.50333	1.59	0.35852	D	0.826862	P	0.45348	0.856	P	0.46825	0.528	T	0.58544	-0.7618	10	0.36615	T	0.2	.	16.6506	0.85188	0.0:0.8708:0.1292:0.0	.	1217	O60437	PEPL_HUMAN	Q	1217	ENSP00000340510:E1217Q	ENSP00000340510:E1217Q	E	-	1	0	PPL	4875008	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	2.541000	0.45735	2.669000	0.90835	0.655000	0.94253	GAG		PASS	0.597	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		32	157	32	157	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16103674	16103674	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:16103674C>T	ENST00000399410.3	+	3	442	c.267C>T	c.(265-267)ctC>ctT	p.L89L	ABCC1_ENST00000351154.5_Silent_p.L89L|ABCC1_ENST00000345148.5_Silent_p.L89L|ABCC1_ENST00000349029.5_Silent_p.L89L|ABCC1_ENST00000346370.5_Silent_p.L89L|ABCC1_ENST00000399408.2_Silent_p.L89L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	89					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L89L(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGCAGACCTCTTCTACTCTT	0.552																																						uc010bvi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(265-267)CTC>CTT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						152.0	154.0	154.0					16																	16103674		1916	4111	6027	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16103674C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.267C>T	16.37:g.16103674C>T						ABCC1_uc010bvj.2_Silent_p.L89L|ABCC1_uc010bvk.2_Silent_p.L89L|ABCC1_uc010bvl.2_Silent_p.L89L|ABCC1_uc010bvm.2_Silent_p.L89L|ABCC1_uc002del.3_5'UTR	p.L89L	NM_004996	NP_004987	P33527	MRP1_HUMAN			3	442	+			89			Helical; Name=2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.267C>T	CCDS42122.1																																																																																				PASS	0.552	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		28	365	28	365	---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24582687	24582687	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:24582687C>G	ENST00000319715.4	+	18	4732	c.4300C>G	c.(4300-4302)Ctg>Gtg	p.L1434V	RBBP6_ENST00000381039.3_Missense_Mutation_p.L594V|RBBP6_ENST00000348022.2_Missense_Mutation_p.L1400V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1434	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1434V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTTGGACCGTCTGAATGAACA	0.398																																						uc002dmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(4300-4302)CTG>GTG		retinoblastoma-binding protein 6 isoform 1							75.0	73.0	74.0					16																	24582687		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582687C>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4300C>G	16.37:g.24582687C>G	ENSP00000317872:p.Leu1434Val					RBBP6_uc002dmi.2_Missense_Mutation_p.L1400V|RBBP6_uc010bxr.2_Missense_Mutation_p.L594V|RBBP6_uc002dmk.2_Missense_Mutation_p.L1267V	p.L1434V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5340	+			1434			Interaction with p53 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4300C>G	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.639151	0.00799	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17528	2.27;2.54;2.54	5.52	-3.39	0.04868	.	0.784839	0.10814	N	0.631270	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.37957	-0.9683	10	0.23302	T	0.38	0.437	1.6923	0.02854	0.3834:0.1824:0.2866:0.1475	.	594;1400;1434	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	V	594;1434;1400	ENSP00000370427:L594V;ENSP00000317872:L1434V;ENSP00000316291:L1400V	ENSP00000317872:L1434V	L	+	1	2	RBBP6	24490188	0.000000	0.05858	0.366000	0.25914	0.979000	0.70002	-0.383000	0.07398	-0.147000	0.11254	0.563000	0.77884	CTG		PASS	0.398	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		26	116	26	116	---	---	---	---
SHCBP1	79801	broad.mit.edu	37	16	46649999	46649999	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:46649999G>A	ENST00000303383.3	-	4	721	c.455C>T	c.(454-456)tCt>tTt	p.S152F		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	152					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)			p.S152F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GCTCACTTGAGAGTCACAGAG	0.473																																						uc002eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(454-456)TCT>TTT		SHC SH2-domain binding protein 1							94.0	86.0	89.0					16																	46649999		2203	4300	6503	SO:0001583	missense	79801							g.chr16:46649999G>A	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.455C>T	16.37:g.46649999G>A	ENSP00000306473:p.Ser152Phe						p.S152F	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			4	495	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	152					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.455C>T	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	.	18.44	3.624125	0.66901	.	.	ENSG00000171241	ENST00000303383	T	0.26660	1.72	4.09	3.13	0.36017	.	0.314863	0.34906	N	0.003583	T	0.39784	0.1091	M	0.66939	2.045	0.45962	D	0.998787	D	0.62365	0.991	P	0.55161	0.77	T	0.36529	-0.9744	10	0.87932	D	0	-5.7496	11.6885	0.51501	0.0876:0.0:0.9124:0.0	.	152	Q8NEM2	SHCBP_HUMAN	F	152	ENSP00000306473:S152F	ENSP00000306473:S152F	S	-	2	0	SHCBP1	45207500	0.751000	0.28327	0.775000	0.31657	0.905000	0.53344	2.593000	0.46180	0.927000	0.37143	-0.350000	0.07774	TCT		PASS	0.473	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		15	120	15	120	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50830242	50830242	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:50830242G>C	ENST00000427738.3	+	18	2899	c.2694G>C	c.(2692-2694)caG>caC	p.Q898H	CYLD_ENST00000564326.1_Missense_Mutation_p.Q895H|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000398568.2_Missense_Mutation_p.Q895H|CYLD_ENST00000311559.9_Missense_Mutation_p.Q898H|CYLD_ENST00000569418.1_Missense_Mutation_p.Q895H|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.Q713H|CYLD_ENST00000540145.1_Missense_Mutation_p.Q898H			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	898	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.Q898H(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TAGGTGGTCAGAATGGCTTCA	0.438			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(2692-2694)CAG>CAC		ubiquitin carboxyl-terminal hydrolase CYLD							90.0	87.0	88.0					16																	50830242		1886	4132	6018	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50830242G>C	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2694G>C	16.37:g.50830242G>C	ENSP00000392025:p.Gln898His					CYLD_uc002egq.1_Missense_Mutation_p.Q895H|CYLD_uc002egr.1_Missense_Mutation_p.Q895H	p.Q898H	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			19	3109	+		all_cancers(37;0.0156)	898					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2694G>C	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194459	0.58017	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.37752	1.18;1.18;1.18	5.71	4.75	0.60458	.	0.049732	0.85682	D	0.000000	T	0.54902	0.1887	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.58228	-0.7673	10	0.87932	D	0	-19.5926	12.7452	0.57278	0.1368:0.0:0.8632:0.0	.	895	Q9NQC7-2	.	H	898;898;895;895	ENSP00000445447:Q898H;ENSP00000308928:Q898H;ENSP00000381574:Q895H	ENSP00000308928:Q898H	Q	+	3	2	CYLD	49387743	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	5.470000	0.66756	1.420000	0.47138	0.655000	0.94253	CAG		PASS	0.438	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			3	86	3	86	---	---	---	---
RSPRY1	89970	broad.mit.edu	37	16	57238833	57238833	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:57238833G>A	ENST00000537866.1	+	2	1136	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	RSPRY1_ENST00000394420.4_Missense_Mutation_p.R88Q			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	88						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.R88Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGGAGGGGCCGAGGACCTCAT	0.527																																						uc002elb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(262-264)CGA>CAA		ring finger and SPRY domain containing 1							83.0	84.0	83.0					16																	57238833		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238833G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.263G>A	16.37:g.57238833G>A	ENSP00000443176:p.Arg88Gln					RSPRY1_uc002elc.2_Missense_Mutation_p.R88Q|RSPRY1_uc002eld.2_Missense_Mutation_p.R88Q|RSPRY1_uc002ele.1_Missense_Mutation_p.R88Q	p.R88Q	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			2	541	+			88					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.263G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563373	0.86335	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.86562	-2.14;-2.14	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.92619	0.7655	M	0.61703	1.905	0.80722	D	1	D;P	0.89917	1.0;0.955	D;B	0.83275	0.996;0.276	D	0.91999	0.5609	10	0.46703	T	0.11	.	19.2604	0.93966	0.0:0.0:1.0:0.0	.	88;88	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	Q	88	ENSP00000377942:R88Q;ENSP00000443176:R88Q	ENSP00000377942:R88Q	R	+	2	0	RSPRY1	55796334	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.630000	0.89119	0.655000	0.94253	CGA		PASS	0.527	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		25	99	25	99	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61851444	61851444	+	Missense_Mutation	SNP	G	G	C	rs375849945		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:61851444G>C	ENST00000577390.1	-	7	2170	c.1216C>G	c.(1216-1218)Cta>Gta	p.L406V	CDH8_ENST00000584337.1_Missense_Mutation_p.L406V|CDH8_ENST00000577730.1_Missense_Mutation_p.L406V|CDH8_ENST00000299345.6_Missense_Mutation_p.L406V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.L406V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACGGAGTTTAGAGCAGCATTT	0.433																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1216-1218)CTA>GTA		cadherin 8, type 2 preproprotein							91.0	82.0	85.0					16																	61851444		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851444G>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1216C>G	16.37:g.61851444G>C	ENSP00000462701:p.Leu406Val					CDH8_uc002eoh.2_Missense_Mutation_p.L175V	p.L406V	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	1468	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	406			Extracellular (Potential).|Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1216C>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	0.750	-0.773182	0.02951	.	.	ENSG00000150394	ENST00000299345	T	0.48201	0.82	6.17	1.57	0.23409	Cadherin (3);Cadherin-like (1);	0.150230	0.64402	D	0.000019	T	0.19886	0.0478	N	0.11154	0.105	0.30740	N	0.746317	B;B	0.10296	0.003;0.0	B;B	0.11329	0.006;0.002	T	0.31833	-0.9929	10	0.02654	T	1	.	6.4463	0.21877	0.1681:0.0:0.4264:0.4055	.	222;406	Q3LID3;P55286	.;CADH8_HUMAN	V	406	ENSP00000299345:L406V	ENSP00000299345:L406V	L	-	1	2	CDH8	60408945	0.849000	0.29639	0.920000	0.36463	0.905000	0.53344	0.904000	0.28491	0.413000	0.25759	0.655000	0.94253	CTA		PASS	0.433	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		16	93	16	93	---	---	---	---
THAP11	57215	broad.mit.edu	37	16	67876805	67876805	+	Silent	SNP	A	A	G	rs28434205	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:67876805A>G	ENST00000303596.1	+	1	593	c.348A>G	c.(346-348)caA>caG	p.Q116Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	116	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q116Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcaacagcagcagc	0.682																																						uc002euo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(346-348)CAA>CAG		THAP domain containing 11		G	,	14,3828		0,14,1907	21.0	26.0	24.0		348,	-3.2	0.7	16	dbSNP_125	24	20,7612		0,20,3796	no	coding-synonymous,intron	THAP11,CENPT	NM_020457.2,NM_025082.3	,	0,34,5703	GG,GA,AA		0.2621,0.3644,0.2963	,	116/315,	67876805	34,11440	1921	3816	5737	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876805A>G	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.348A>G	16.37:g.67876805A>G						CENPT_uc002eun.3_Intron	p.Q116Q	NM_020457	NP_065190	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	593	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	116			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.348A>G	CCDS10847.1																																																																																				PASS	0.682	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		6	38	6	38	---	---	---	---
HPR	3250	broad.mit.edu	37	16	72108264	72108264	+	Missense_Mutation	SNP	G	G	A	rs152833	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr16:72108264G>A	ENST00000540303.2	+	3	205	c.173G>A	c.(172-174)aGa>aAa	p.R58K	HPR_ENST00000228226.8_Missense_Mutation_p.R95K|HPR_ENST00000356967.5_Missense_Mutation_p.R58K|HPR_ENST00000561690.1_Missense_Mutation_p.R58K	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	58	Sushi.		R -> K (in dbSNP:rs152833).			blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.R58K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				AACTACTACAGACTGCGCACA	0.507																																						uc002fby.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(172-174)AGA>AAA		haptoglobin-related protein precursor							204.0	126.0	151.0					16																	72108264		1992	4157	6149	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72108264G>A	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.173G>A	16.37:g.72108264G>A	ENSP00000441828:p.Arg58Lys					TXNL4B_uc010cgl.2_Intron	p.R58K	NM_020995	NP_066275	P00739	HPTR_HUMAN			3	203	+		Ovarian(137;0.125)	58			Sushi.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.173G>A	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	G	8.305	0.820859	0.16678	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	T;T;T	0.48836	0.8;0.8;0.8	2.4	-4.78	0.03209	Complement control module (2);	0.565097	0.16734	N	0.201714	T	0.11879	0.0289	N	0.02181	-0.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26189	-1.0110	10	0.02654	T	1	.	3.9432	0.09336	0.278:0.3813:0.3407:0.0	rs152833	58	P00739	HPTR_HUMAN	K	58;58;95	ENSP00000349451:R58K;ENSP00000441828:R58K;ENSP00000228226:R95K	ENSP00000228226:R95K	R	+	2	0	HP	70665765	0.001000	0.12720	0.006000	0.13384	0.072000	0.16883	-0.451000	0.06795	-1.203000	0.02652	0.205000	0.17691	AGA		PASS	0.507	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		28	98	28	98	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	41	13	41	---	---	---	---
KSR1	8844	broad.mit.edu	37	17	25938601	25938601	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:25938601C>T	ENST00000319524.6	+	19	2505	c.2505C>T	c.(2503-2505)agC>agT	p.S835S	KSR1_ENST00000582410.1_Silent_p.S49S|KSR1_ENST00000268763.6_Silent_p.S698S|KSR1_ENST00000509603.2_Silent_p.S813S|KSR1_ENST00000398988.3_Silent_p.S698S			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S813S(1)|p.S835S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATTGGAAGCGGGGAAGGAA	0.567																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|central_nervous_system(1)	4						c.(2092-2094)AGC>AGT		kinase suppressor of ras							88.0	93.0	92.0					17																	25938601		2012	4182	6194	SO:0001819	synonymous_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25938601C>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2505C>T	17.37:g.25938601C>T						KSR1_uc002gzm.2_Silent_p.S477S|KSR1_uc002gzn.2_Silent_p.S49S	p.S698S	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	19	2539	+	Lung NSC(42;0.00836)		833			Protein kinase.		F8WEA9|H7BYU0|Q13476	Silent	SNP	ENST00000319524.6	37	c.2094C>T		.	.	.	.	.	.	.	.	.	.	C	8.187	0.795051	0.16327	.	.	ENSG00000141068	ENST00000398988	.	.	.	5.68	-11.4	0.00090	.	.	.	.	.	T	0.69287	0.3094	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	T	0.79441	-0.1802	4	.	.	.	.	20.8608	0.99794	0.0:0.2271:0.0:0.7729	.	.	.	.	W	549	.	.	R	+	1	2	KSR1	22962728	0.000000	0.05858	0.243000	0.24186	0.877000	0.50540	-2.128000	0.01314	-2.502000	0.00509	-0.743000	0.03520	CGG		PASS	0.567	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		14	68	14	68	---	---	---	---
IFT20	90410	broad.mit.edu	37	17	26655743	26655743	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:26655743C>T	ENST00000585313.1	-	6	471	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	IFT20_ENST00000357896.3_3'UTR|IFT20_ENST00000585089.1_Missense_Mutation_p.E138K|IFT20_ENST00000579419.1_Intron|IFT20_ENST00000395418.3_Missense_Mutation_p.E112K	NM_001267775.1	NP_001254704.1	Q8IY31	IFT20_HUMAN	intraflagellar transport 20	112	IFT57-binding. {ECO:0000250}.				cardiac muscle cell differentiation (GO:0055007)|centrosome localization (GO:0051642)|cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|neural precursor cell proliferation (GO:0061351)|opsin transport (GO:0036372)|photoreceptor cell outer segment organization (GO:0035845)|protein localization to cilium (GO:0061512)|protein localization to Golgi apparatus (GO:0034067)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cilium assembly (GO:1902017)|smoothened signaling pathway (GO:0007224)|visual learning (GO:0008542)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				lung(2)	2	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CACAAAGCTTCATATTCAACC	0.318																																						uc002haw.1																			0					0						c.(334-336)GAA>AAA		RecName: Full=Intraflagellar transport protein 20 homolog;          Short=hIFT20;							54.0	58.0	56.0					17																	26655743		2203	4300	6503	SO:0001583	missense	90410				cell projection organization	centriole|cilium|Golgi apparatus|microtubule basal body	protein binding	g.chr17:26655743C>T	AF070643	CCDS32593.1, CCDS58533.1, CCDS58534.1, CCDS58535.1, CCDS74017.1	17q11.2	2014-07-03	2014-07-03			ENSG00000109083		"""Intraflagellar transport homologs"""	30989	protein-coding gene	gene with protein product		614394	"""intraflagellar transport 20 homolog (Chlamydomonas)"""				Standard	NM_001267774		Approved		uc002hau.2	Q8IY31		ENST00000585313.1:c.334G>A	17.37:g.26655743C>T	ENSP00000463138:p.Glu112Lys					IFT20_uc002hau.1_3'UTR|IFT20_uc002hav.1_Missense_Mutation_p.E138K|TNFAIP1_uc002hax.1_5'Flank	p.E112K			Q8IY31	IFT20_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	5	466	-	all_lung(13;0.000294)|Lung NSC(42;0.000964)		112			IFT57-binding (By similarity).|Potential.		J3QL09|Q5GLZ2|Q9BUG5	Missense_Mutation	SNP	ENST00000585313.1	37	c.334G>A	CCDS58534.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637974	0.87760	.	.	ENSG00000109083	ENST00000395418	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	.	.	.	0.80722	D	1	P;P	0.43662	0.51;0.814	B;B	0.42214	0.154;0.38	T	0.61357	-0.7079	8	0.56958	D	0.05	-14.3789	19.8676	0.96824	0.0:1.0:0.0:0.0	.	112;138	Q8IY31;Q8IY31-2	IFT20_HUMAN;.	K	112	.	ENSP00000378809:E112K	E	-	1	0	IFT20	23679870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.920000	0.75799	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.318	IFT20-008	NOVEL	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446153.2	NM_174887		6	51	6	51	---	---	---	---
IFT20	90410	broad.mit.edu	37	17	26655748	26655748	+	Missense_Mutation	SNP	T	T	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:26655748T>A	ENST00000585313.1	-	6	466	c.329A>T	c.(328-330)gAa>gTa	p.E110V	IFT20_ENST00000357896.3_Nonstop_Mutation_p.*149C|IFT20_ENST00000585089.1_Missense_Mutation_p.E136V|IFT20_ENST00000579419.1_Intron|IFT20_ENST00000395418.3_Missense_Mutation_p.E110V	NM_001267775.1	NP_001254704.1	Q8IY31	IFT20_HUMAN	intraflagellar transport 20	110	IFT57-binding. {ECO:0000250}.				cardiac muscle cell differentiation (GO:0055007)|centrosome localization (GO:0051642)|cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|neural precursor cell proliferation (GO:0061351)|opsin transport (GO:0036372)|photoreceptor cell outer segment organization (GO:0035845)|protein localization to cilium (GO:0061512)|protein localization to Golgi apparatus (GO:0034067)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cilium assembly (GO:1902017)|smoothened signaling pathway (GO:0007224)|visual learning (GO:0008542)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.*149C(1)		lung(2)	2	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGCTTCATATTCAACCCGATA	0.313																																						uc002haw.1																			1	Nonstop extension(1)		lung(1)		0						c.(328-330)GAA>GTA		RecName: Full=Intraflagellar transport protein 20 homolog;          Short=hIFT20;							53.0	57.0	55.0					17																	26655748		2203	4300	6503	SO:0001583	missense	90410				cell projection organization	centriole|cilium|Golgi apparatus|microtubule basal body	protein binding	g.chr17:26655748T>A	AF070643	CCDS32593.1, CCDS58533.1, CCDS58534.1, CCDS58535.1, CCDS74017.1	17q11.2	2014-07-03	2014-07-03			ENSG00000109083		"""Intraflagellar transport homologs"""	30989	protein-coding gene	gene with protein product		614394	"""intraflagellar transport 20 homolog (Chlamydomonas)"""				Standard	NM_001267774		Approved		uc002hau.2	Q8IY31		ENST00000585313.1:c.329A>T	17.37:g.26655748T>A	ENSP00000463138:p.Glu110Val					IFT20_uc002hau.1_Nonstop_Mutation_p.*149C|IFT20_uc002hav.1_Missense_Mutation_p.E136V|TNFAIP1_uc002hax.1_5'Flank	p.E110V			Q8IY31	IFT20_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	5	461	-	all_lung(13;0.000294)|Lung NSC(42;0.000964)		110			IFT57-binding (By similarity).|Potential.		J3QL09|Q5GLZ2|Q9BUG5	Missense_Mutation	SNP	ENST00000585313.1	37	c.329A>T	CCDS58534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.333127|4.333127	0.81801|0.81801	.|.	.|.	ENSG00000109083|ENSG00000109083	ENST00000395418|ENST00000357896	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.041533|.	0.85682|.	D|.	0.000000|.	T|.	0.73289|.	0.3568|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.96;0.994|.	P;P|.	0.61722|.	0.663;0.893|.	T|.	0.71981|.	-0.4428|.	8|.	0.72032|.	D|.	0.01|.	-40.3189|-40.3189	16.0034|16.0034	0.80327|0.80327	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	110;136|.	Q8IY31;Q8IY31-2|.	IFT20_HUMAN;.|.	V|C	110|149	.|.	ENSP00000378809:E110V|.	E|X	-|-	2|3	0|0	IFT20|IFT20	23679875|23679875	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.115000|7.115000	0.77110|0.77110	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAA|TGA		PASS	0.313	IFT20-008	NOVEL	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446153.2	NM_174887		6	52	6	52	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27065226	27065226	+	Missense_Mutation	SNP	C	C	G	rs574347342		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:27065226C>G	ENST00000268766.6	+	8	1219	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	395					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.H406Q(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCATCAAGCACGTGGCCTGTG	0.627																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(1183-1185)CAC>CAG		NIMA-related kinase 8							126.0	98.0	108.0					17																	27065226		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27065226C>G	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1185C>G	17.37:g.27065226C>G	ENSP00000268766:p.His395Gln						p.H395Q	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			8	1185	+	Lung NSC(42;0.0158)		395					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1185C>G	CCDS32597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.31|10.31	1.315765|1.315765	0.23908|0.23908	.|.	.|.	ENSG00000160602|ENSG00000160602	ENST00000268766|ENST00000543014	T|T	0.78595|0.70631	-1.19|-0.5	5.93|5.93	-4.52|-4.52	0.03472|0.03472	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.106914|.	0.64402|.	D|.	0.000004|.	T|T	0.60379|0.60379	0.2264|0.2264	N|N	0.16368|0.16368	0.405|0.405	0.43652|0.43652	D|D	0.996063|0.996063	B|.	0.19073|.	0.033|.	B|.	0.16722|.	0.016|.	T|T	0.60737|0.60737	-0.7204|-0.7204	10|7	0.18710|0.87932	T|D	0.47|0	.|.	14.2675|14.2675	0.66129|0.66129	0.0:0.4665:0.0:0.5335|0.0:0.4665:0.0:0.5335	.|.	395|.	Q86SG6|.	NEK8_HUMAN|.	Q|G	395|449	ENSP00000268766:H395Q|ENSP00000465859:R449G	ENSP00000268766:H395Q|ENSP00000446066:R449G	H|R	+|+	3|1	2|0	NEK8|NEK8	24089353|24089353	0.000000|0.000000	0.05858|0.05858	0.945000|0.945000	0.38365|0.38365	0.993000|0.993000	0.82548|0.82548	-5.429000|-5.429000	0.00123|0.00123	-0.720000|-0.720000	0.04935|0.04935	-0.136000|-0.136000	0.14681|0.14681	CAC|CGT		PASS	0.627	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			18	118	18	118	---	---	---	---
CRLF3	51379	broad.mit.edu	37	17	29111225	29111225	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:29111225A>G	ENST00000324238.6	-	8	1433	c.1309T>C	c.(1309-1311)Tgg>Cgg	p.W437R	CTD-2349P21.10_ENST00000585212.1_RNA|CRLF3_ENST00000544695.1_Missense_Mutation_p.W321R|CRLF3_ENST00000577725.1_5'Flank	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	437					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.W437R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				AACACTTTCCATCCAGGATAG	0.378																																					Pancreas(30;346 881 29244 33464 41299)	uc002hfr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1309-1311)TGG>CGG		cytokine receptor-like factor 3							91.0	85.0	87.0					17																	29111225		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29111225A>G	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1309T>C	17.37:g.29111225A>G	ENSP00000318804:p.Trp437Arg					CRLF3_uc010wbr.1_Missense_Mutation_p.W321R	p.W437R	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN			8	1418	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	437					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.1309T>C	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	a	22.0	4.231855	0.79688	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.64260	-0.09;-0.09	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	L	0.49126	1.545	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.76916	-0.2782	10	0.87932	D	0	-1.6842	15.2734	0.73723	1.0:0.0:0.0:0.0	.	437	Q8IUI8	CRLF3_HUMAN	R	437;321	ENSP00000318804:W437R;ENSP00000444188:W321R	ENSP00000318804:W437R	W	-	1	0	CRLF3	26135351	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	8.846000	0.92159	2.069000	0.61940	0.460000	0.39030	TGG		PASS	0.378	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			16	78	16	78	---	---	---	---
PNMT	5409	broad.mit.edu	37	17	37824826	37824826	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:37824826G>A	ENST00000269582.2	+	1	416	c.98G>A	c.(97-99)cGc>cAc	p.R33H	PNMT_ENST00000581428.1_Missense_Mutation_p.R33H|PNMT_ENST00000394246.1_Intron	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	33					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)	p.R33H(1)		NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCGAGCCGCGCGCCTACCTC	0.731																																						uc002hsi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(97-99)CGC>CAC		phenylethanolamine N-methyltransferase							6.0	8.0	7.0					17																	37824826		2040	3983	6023	SO:0001583	missense	5409				catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity	g.chr17:37824826G>A		CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.98G>A	17.37:g.37824826G>A	ENSP00000269582:p.Arg33His						p.R33H	NM_002686	NP_002677	P11086	PNMT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		1	320	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		33						Missense_Mutation	SNP	ENST00000269582.2	37	c.98G>A	CCDS11343.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916543	0.92249	.	.	ENSG00000141744	ENST00000269582	T	0.03663	3.85	4.55	2.38	0.29361	.	0.261529	0.31358	U	0.007785	T	0.07413	0.0187	M	0.68952	2.095	0.40579	D	0.981377	D	0.60575	0.988	P	0.47626	0.552	T	0.16689	-1.0394	10	0.51188	T	0.08	-10.3679	10.1073	0.42541	0.0:0.1498:0.6948:0.1554	.	33	P11086	PNMT_HUMAN	H	33	ENSP00000269582:R33H	ENSP00000269582:R33H	R	+	2	0	PNMT	35078352	0.047000	0.20315	0.997000	0.53966	0.993000	0.82548	1.533000	0.36040	0.270000	0.21984	0.455000	0.32223	CGC		PASS	0.731	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256923.2	NM_002686		6	21	6	21	---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38859884	38859884	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:38859884G>C	ENST00000264651.2	-	1	118	c.62C>G	c.(61-63)tCt>tGt	p.S21C		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	21	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.S21C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TCCACCAGCAGACACCCTGGC	0.637																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)TCT>TGT		keratin 24							37.0	38.0	38.0					17																	38859884		2202	4296	6498	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859884G>C		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.62C>G	17.37:g.38859884G>C	ENSP00000264651:p.Ser21Cys						p.S21C	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			1	119	-		Breast(137;0.00526)	21			Head.|Gly-rich.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.62C>G	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	G	4.010	-0.000778	0.07819	.	.	ENSG00000167916	ENST00000264651	D	0.83673	-1.75	4.41	2.35	0.29111	.	.	.	.	.	T	0.66127	0.2758	N	0.11560	0.145	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.56074	-0.8039	9	0.54805	T	0.06	.	6.1186	0.20139	0.1082:0.2:0.6917:0.0	.	21	Q2M2I5	K1C24_HUMAN	C	21	ENSP00000264651:S21C	ENSP00000264651:S21C	S	-	2	0	KRT24	36113410	0.021000	0.18746	0.002000	0.10522	0.011000	0.07611	1.457000	0.35212	0.393000	0.25203	-0.251000	0.11542	TCT		PASS	0.637	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		5	105	5	105	---	---	---	---
SCPEP1	59342	broad.mit.edu	37	17	55079507	55079507	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:55079507C>G	ENST00000262288.3	+	12	1316	c.1261C>G	c.(1261-1263)Ctt>Gtt	p.L421V	AC007114.1_ENST00000580911.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	421					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.L421V(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					CTACAAGAACCTTGCTTTCTA	0.438																																						uc002iuv.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1261-1263)CTT>GTT		serine carboxypeptidase 1 precursor							115.0	103.0	107.0					17																	55079507		2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55079507C>G	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.1261C>G	17.37:g.55079507C>G	ENSP00000262288:p.Leu421Val					SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Missense_Mutation_p.L371V	p.L421V	NM_021626	NP_067639	Q9HB40	RISC_HUMAN			12	1314	+	Breast(9;2.86e-08)		421					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.1261C>G	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575122	0.65878	.	.	ENSG00000121064	ENST00000262288	T	0.63580	-0.05	5.45	4.48	0.54585	.	0.063428	0.64402	D	0.000005	T	0.78904	0.4357	M	0.90309	3.105	0.38468	D	0.9474	D	0.65815	0.995	D	0.66602	0.945	T	0.82466	-0.0443	10	0.72032	D	0.01	-10.5328	7.6403	0.28290	0.0:0.7517:0.0:0.2483	.	421	Q9HB40	RISC_HUMAN	V	421	ENSP00000262288:L421V	ENSP00000262288:L421V	L	+	1	0	SCPEP1	52434506	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.624000	0.61254	1.441000	0.47550	0.655000	0.94253	CTT		PASS	0.438	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		30	117	30	117	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60038399	60038399	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:60038399T>C	ENST00000397786.2	-	23	5385	c.5309A>G	c.(5308-5310)aAg>aGg	p.K1770R		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1770					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.K1770R(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGTTTGTCCTTCACTGGAGC	0.348																																						uc002izo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(5308-5310)AAG>AGG		mediator complex subunit 13							111.0	98.0	102.0					17																	60038399		1829	4079	5908	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60038399T>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5309A>G	17.37:g.60038399T>C	ENSP00000380888:p.Lys1770Arg						p.K1770R	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			23	5386	-			1770					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5309A>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.286515	0.80803	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74315	-0.83	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	L	0.38531	1.155	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.76247	-0.3029	10	0.24483	T	0.36	-18.6926	14.9997	0.71462	0.0:0.0:0.0:1.0	.	1770	Q9UHV7	MED13_HUMAN	R	1770;1769	ENSP00000380888:K1770R	ENSP00000262436:K1769R	K	-	2	0	MED13	57393181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.608000	0.82898	1.951000	0.56629	0.528000	0.53228	AAG		PASS	0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		26	112	26	112	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62272454	62272454	+	Splice_Site	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:62272454C>A	ENST00000583097.1	-	3	1818	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	TEX2_ENST00000258991.3_Splice_Site_p.G549V|TEX2_ENST00000584379.1_Splice_Site_p.G549V			Q8IWB9	TEX2_HUMAN	testis expressed 2	549					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.G549V(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ATTCATCCATCCCTGATGAAG	0.373																																						uc002jec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1645-1647)GGA>GTA		testis expressed sequence 2							60.0	55.0	57.0					17																	62272454		2203	4300	6503	SO:0001630	splice_region_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62272454C>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1645-1G>T	17.37:g.62272454C>A						TEX2_uc002jed.2_Missense_Mutation_p.G549V|TEX2_uc002jee.2_Missense_Mutation_p.G549V	p.G549V	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	3	1819	-			549					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1646G>T		.	.	.	.	.	.	.	.	.	.	C	15.96	2.988226	0.53934	.	.	ENSG00000136478	ENST00000258991	T	0.78595	-1.19	6.07	6.07	0.98685	Pleckstrin homology domain (1);	0.154190	0.56097	D	0.000021	D	0.89539	0.6744	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89466	0.3740	10	0.87932	D	0	-15.6401	20.6593	0.99626	0.0:1.0:0.0:0.0	.	549;549	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	V	549	ENSP00000258991:G549V	ENSP00000258991:G549V	G	-	2	0	TEX2	59626186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.381000	0.79718	2.885000	0.99019	0.655000	0.94253	GGA		PASS	0.373	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469	Missense_Mutation	24	68	24	68	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67146196	67146196	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:67146196G>C	ENST00000269081.4	-	38	5315	c.4406C>G	c.(4405-4407)tCt>tGt	p.S1469C	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1469					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1469C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CGCCATTAAAGAGGAATATCT	0.363																																						uc010dfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(4405-4407)TCT>TGT		ATP-binding cassette, sub-family A, member 10							72.0	71.0	71.0					17																	67146196		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67146196G>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4406C>G	17.37:g.67146196G>C	ENSP00000269081:p.Ser1469Cys					ABCA10_uc002jhz.2_RNA|ABCA10_uc010wqs.1_Missense_Mutation_p.S461C|ABCA10_uc010wqt.1_RNA	p.S1469C	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			38	5285	-	Breast(10;6.95e-12)		1469					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.4406C>G	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806807	0.50421	.	.	ENSG00000154263	ENST00000269081	T	0.80214	-1.35	3.15	2.16	0.27623	.	0.000000	0.31897	U	0.006887	D	0.88782	0.6530	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70227	0.947;0.968	D	0.88336	0.2971	10	0.59425	D	0.04	.	10.3529	0.43948	0.1009:0.0:0.8991:0.0	.	461;1469	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	C	1469	ENSP00000269081:S1469C	ENSP00000269081:S1469C	S	-	2	0	ABCA10	64657791	1.000000	0.71417	0.005000	0.12908	0.012000	0.07955	5.742000	0.68646	0.639000	0.30564	0.462000	0.41574	TCT		PASS	0.363	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		4	90	4	90	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72840614	72840614	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:72840614G>A	ENST00000293190.5	-	12	2530	c.2384C>T	c.(2383-2385)tCa>tTa	p.S795L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.S795L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	795					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.S795L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCAGATCCCTGAGAGCCACAC	0.557																																						uc002jlt.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(2383-2385)TCA>TTA		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						115.0	102.0	106.0					17																	72840614		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72840614G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2384C>T	17.37:g.72840614G>A	ENSP00000293190:p.Ser795Leu					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.S795L	p.S795L	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			12	2540	-	all_lung(278;0.172)|Lung NSC(278;0.207)		795			Extracellular (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2384C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999364	0.54147	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.49139	0.79	4.79	4.79	0.61399	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.075209	0.56097	D	0.000033	T	0.59307	0.2184	L	0.42245	1.32	0.58432	D	0.999993	D;D	0.71674	0.998;0.975	P;P	0.60949	0.881;0.866	T	0.63409	-0.6644	10	0.72032	D	0.01	.	17.807	0.88604	0.0:0.0:1.0:0.0	.	829;795	Q8IW23;Q14957	.;NMDE3_HUMAN	L	795;829	ENSP00000293190:S795L	ENSP00000293190:S795L	S	-	2	0	GRIN2C	70352209	1.000000	0.71417	0.910000	0.35882	0.865000	0.49528	9.800000	0.99124	2.360000	0.80028	0.561000	0.74099	TCA		PASS	0.557	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			52	413	52	413	---	---	---	---
OTOP2	92736	broad.mit.edu	37	17	72926486	72926487	+	Missense_Mutation	DNP	CT	CT	TA			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:72926486_72926487CT>TA	ENST00000580223.1	+	5	786_787	c.756_757CT>TA	c.(754-759)ctCTtc>ctTAtc	p.F253I	OTOP2_ENST00000331427.4_Missense_Mutation_p.F253I			Q7RTS6	OTOP2_HUMAN	otopetrin 2	253						integral component of membrane (GO:0016021)		p.F253I(2)|p.L252L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGTACAGCCTCTTCGCCTCCAC	0.589																																						uc010wrp.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|large_intestine(1)	4						c.(754-756)CTC>CTT|c.(757-759)TTC>ATC		otopetrin 2																																				SO:0001583	missense	92736					integral to membrane		g.chr17:72926486C>T|g.chr17:72926487T>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		Exception_encountered	17.37:g.72926486_72926487delinsTA	ENSP00000463837:p.Phe253Ile						p.L252L|p.F253I	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			7	845|846	+	all_lung(278;0.172)|Lung NSC(278;0.207)		252|253			Helical; (Potential).			Silent|Missense_Mutation	SNP	ENST00000580223.1	37	c.756C>T|c.757T>A	CCDS11708.1																																																																																				PASS	0.589	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		83|81	771|763	81	763	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73723837	73723837	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:73723837G>C	ENST00000200181.3	+	5	557	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	ITGB4_ENST00000579662.1_Missense_Mutation_p.E124Q|ITGB4_ENST00000450894.3_Missense_Mutation_p.E124Q|ITGB4_ENST00000339591.3_Missense_Mutation_p.E124Q|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.E124Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	124					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.E124Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGGTGTTTGAGCCACTGGA	0.612																																						uc002jpg.2																			1	Substitution - Missense(1)		lung(1)	lung(4)	4						c.(370-372)GAG>CAG		integrin beta 4 isoform 1 precursor							63.0	57.0	59.0					17																	73723837		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73723837G>C		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.370G>C	17.37:g.73723837G>C	ENSP00000200181:p.Glu124Gln					ITGB4_uc002jph.2_Missense_Mutation_p.E124Q|ITGB4_uc010dgo.2_Missense_Mutation_p.E124Q|ITGB4_uc002jpi.3_Missense_Mutation_p.E124Q|ITGB4_uc010dgp.1_Missense_Mutation_p.E124Q|ITGB4_uc002jpj.2_Missense_Mutation_p.E124Q	p.E124Q	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	557	+	all_cancers(13;1.5e-07)		124			Extracellular (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.370G>C	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484697	0.44147	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D;D	0.92099	-2.08;-2.97;-2.97;-2.97	5.22	5.22	0.72569	Integrin beta subunit, N-terminal (2);	0.152767	0.43747	D	0.000535	D	0.84406	0.5465	N	0.05031	-0.125	0.49483	D	0.999793	B;B;B;B	0.32425	0.371;0.309;0.359;0.359	B;B;B;B	0.39935	0.099;0.161;0.314;0.314	T	0.81870	-0.0734	10	0.12766	T	0.61	.	15.408	0.74897	0.0:0.1491:0.8509:0.0	.	124;124;124;124	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	Q	40;124;124;124	ENSP00000405536:E40Q;ENSP00000200181:E124Q;ENSP00000344079:E124Q;ENSP00000400217:E124Q	ENSP00000200181:E124Q	E	+	1	0	ITGB4	71235432	1.000000	0.71417	0.997000	0.53966	0.792000	0.44763	6.284000	0.72652	2.445000	0.82738	0.655000	0.94253	GAG		PASS	0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			13	135	13	135	---	---	---	---
CDK3	1018	broad.mit.edu	37	17	73998415	73998415	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:73998415C>T	ENST00000425876.2	+	4	490	c.402C>T	c.(400-402)ctC>ctT	p.L134L	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.L134L			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L134L(1)		central_nervous_system(1)	1						AGAACCTGCTCATCAATGAGT	0.592																																						uc010dgt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(400-402)CTC>CTT		cyclin-dependent kinase 3							64.0	54.0	57.0					17																	73998415		2203	4300	6503	SO:0001819	synonymous_variant	1018				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:73998415C>T	X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.402C>T	17.37:g.73998415C>T						CDK3_uc002jqg.3_Silent_p.L162L	p.L134L	NM_001258	NP_001249	Q00526	CDK3_HUMAN			5	478	+			134			Protein kinase.			Silent	SNP	ENST00000425876.2	37	c.402C>T	CCDS11736.1																																																																																				PASS	0.592	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		6	249	6	249	---	---	---	---
CDK3	1018	broad.mit.edu	37	17	73998597	73998597	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr17:73998597G>A	ENST00000425876.2	+	5	580	c.492G>A	c.(490-492)gtG>gtA	p.V164V	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.V164V			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	164	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.V164V(1)		central_nervous_system(1)	1						TGCAGGTGGTGACACTGTGGT	0.532																																						uc010dgt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(490-492)GTG>GTA		cyclin-dependent kinase 3							97.0	77.0	84.0					17																	73998597		2203	4300	6503	SO:0001819	synonymous_variant	1018				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:73998597G>A	X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.492G>A	17.37:g.73998597G>A						CDK3_uc002jqg.3_Silent_p.V192V	p.V164V	NM_001258	NP_001249	Q00526	CDK3_HUMAN			6	568	+			164			Protein kinase.			Silent	SNP	ENST00000425876.2	37	c.492G>A	CCDS11736.1																																																																																				PASS	0.532	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		10	218	10	218	---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8394534	8394534	+	Silent	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr18:8394534G>T	ENST00000332175.8	+	30	5267	c.4230G>T	c.(4228-4230)cgG>cgT	p.R1410R	PTPRM_ENST00000400053.4_Silent_p.R1348R|PTPRM_ENST00000444013.1_Silent_p.R1197R|PTPRM_ENST00000400060.4_Silent_p.R1424R|PTPRM_ENST00000580170.1_Silent_p.R1423R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1410	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1410R(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGCTCCGGCACCAGAGAA	0.562																																						uc002knn.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(4228-4230)CGG>CGT		protein tyrosine phosphatase, receptor type, M							82.0	62.0	68.0					18																	8394534		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8394534G>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4230G>T	18.37:g.8394534G>T						PTPRM_uc010dkv.2_Silent_p.R1423R|PTPRM_uc010wzl.1_Silent_p.R1197R	p.R1410R	NM_002845	NP_002836	P28827	PTPRM_HUMAN			30	4733	+		Colorectal(10;0.234)	1410			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.4230G>T	CCDS11840.1																																																																																				PASS	0.562	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			6	49	6	49	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13056361	13056361	+	Missense_Mutation	SNP	G	G	T	rs546992868	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr18:13056361G>T	ENST00000325971.8	+	17	3577	c.1984G>T	c.(1984-1986)Gct>Tct	p.A662S	CEP192_ENST00000506447.1_Missense_Mutation_p.A1258S|CEP192_ENST00000430049.2_Missense_Mutation_p.A783S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	662					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.A1258S(1)|p.A662S(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTCTCTCAGCGCTGCTCCTTT	0.552																																						uc010xac.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(3772-3774)GCT>TCT		centrosomal protein 192kDa							87.0	70.0	76.0					18																	13056361		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13056361G>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1984G>T	18.37:g.13056361G>T	ENSP00000317156:p.Ala662Ser					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.A783S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.A999S	p.A1258S	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			19	3852	+			1258					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.3772G>T		.	.	.	.	.	.	.	.	.	.	G	10.43	1.348203	0.24426	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.15256	2.44;2.44;2.44	5.24	-1.44	0.08856	.	0.836188	0.10639	N	0.651243	T	0.11410	0.0278	L	0.29908	0.895	0.09310	N	1	B;B;B	0.23249	0.082;0.024;0.024	B;B;B	0.22601	0.025;0.013;0.04	T	0.39722	-0.9600	10	0.15952	T	0.53	1.7335	11.3107	0.49362	0.5974:0.0:0.4026:0.0	.	783;1258;662	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	S	1258;662;662;783	ENSP00000427550:A1258S;ENSP00000317156:A662S;ENSP00000389190:A783S	ENSP00000317156:A662S	A	+	1	0	CEP192	13046361	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.070000	0.14573	-0.495000	0.06659	-0.937000	0.02696	GCT		PASS	0.552	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		21	73	21	73	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25593661	25593661	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr18:25593661C>T	ENST00000269141.3	-	3	808	c.385G>A	c.(385-387)Gag>Aag	p.E129K	CDH2_ENST00000399380.3_Missense_Mutation_p.E98K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	129					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.E129K(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTGACTCCTCAGTTAAGGTT	0.418																																						uc002kwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(385-387)GAG>AAG		cadherin 2, type 1 preproprotein							147.0	152.0	150.0					18																	25593661		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25593661C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.385G>A	18.37:g.25593661C>T	ENSP00000269141:p.Glu129Lys					CDH2_uc010xbn.1_Missense_Mutation_p.E98K	p.E129K	NM_001792	NP_001783	P19022	CADH2_HUMAN			3	844	-			129					A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.385G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688322	0.29962	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882;ENST00000413878	T;T;T;T;T	0.68903	0.42;0.37;-0.36;0.21;0.84	5.55	4.68	0.58851	Cadherin-like (1);	0.634169	0.16725	N	0.202088	T	0.42810	0.1219	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.21724	-1.0237	10	0.17832	T	0.49	.	9.1423	0.36910	0.0:0.7764:0.1464:0.0772	.	98;129	A8MWK3;P19022	.;CADH2_HUMAN	K	129;98;78;44;44	ENSP00000269141:E129K;ENSP00000382312:E98K;ENSP00000411360:E78K;ENSP00000412120:E44K;ENSP00000414269:E44K	ENSP00000269141:E129K	E	-	1	0	CDH2	23847659	0.281000	0.24258	0.234000	0.24042	0.770000	0.43624	2.303000	0.43646	1.355000	0.45865	0.585000	0.79938	GAG		PASS	0.418	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		52	229	52	229	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32462073	32462073	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr18:32462073G>C	ENST00000399113.3	+	20	2122	c.2122G>C	c.(2122-2124)Gaa>Caa	p.E708Q	DTNA_ENST00000601125.1_Missense_Mutation_p.E330Q|DTNA_ENST00000399097.3_Missense_Mutation_p.E356Q|DTNA_ENST00000591182.1_Missense_Mutation_p.E356Q|DTNA_ENST00000592449.1_3'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.E709Q|DTNA_ENST00000598334.1_Missense_Mutation_p.E648Q|DTNA_ENST00000444659.1_Missense_Mutation_p.E708Q|DTNA_ENST00000595022.1_Missense_Mutation_p.E648Q|DTNA_ENST00000283365.9_Missense_Mutation_p.E651Q|DTNA_ENST00000556414.3_Missense_Mutation_p.E360Q|DTNA_ENST00000269192.7_Missense_Mutation_p.E417Q|DTNA_ENST00000590831.2_Missense_Mutation_p.E134Q|DTNA_ENST00000399121.5_Missense_Mutation_p.E655Q|DTNA_ENST00000598142.1_Missense_Mutation_p.E651Q			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	708					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.E708Q(1)|p.E709Q(1)|p.E356Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCCTGAAGATGAAAACTATGA	0.443																																						uc010dmn.1																			3	Substitution - Missense(3)		lung(3)		0						c.(2122-2124)GAA>CAA		dystrobrevin alpha isoform 1							84.0	84.0	84.0					18																	32462073		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32462073G>C	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.2122G>C	18.37:g.32462073G>C	ENSP00000382064:p.Glu708Gln					DTNA_uc002kxw.2_Missense_Mutation_p.E651Q|DTNA_uc010dmj.2_Missense_Mutation_p.E648Q|DTNA_uc002kxz.2_Missense_Mutation_p.E655Q|DTNA_uc002kxy.2_Missense_Mutation_p.E648Q|DTNA_uc010xby.1_Missense_Mutation_p.E398Q|DTNA_uc010xbz.1_Missense_Mutation_p.E417Q|DTNA_uc010xca.1_Missense_Mutation_p.E360Q|DTNA_uc002kye.2_Missense_Mutation_p.E356Q	p.E708Q	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			20	2123	+			708					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.2122G>C	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242590	0.58995	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.20463	2.07;2.09;2.09;2.09	5.96	5.96	0.96718	.	0.067986	0.56097	D	0.000028	T	0.27098	0.0664	N	0.19112	0.55	0.33819	D	0.628751	P;P;B;P;D;P;P;P;P	0.52996	0.49;0.921;0.136;0.728;0.957;0.846;0.818;0.818;0.886	B;P;B;P;P;P;B;B;B	0.53722	0.332;0.733;0.083;0.545;0.579;0.512;0.255;0.255;0.44	T	0.13072	-1.0523	10	0.56958	D	0.05	-9.5925	18.5997	0.91244	0.0:0.0:1.0:0.0	.	360;417;398;708;651;356;655;659;651	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	Q	651;651;655;709;356;708;708;708;417;356;360	ENSP00000283365:E651Q;ENSP00000269190:E709Q;ENSP00000405819:E708Q;ENSP00000382064:E708Q	ENSP00000269190:E709Q	E	+	1	0	DTNA	30716071	1.000000	0.71417	0.982000	0.44146	0.021000	0.10359	6.334000	0.72944	2.831000	0.97527	0.650000	0.86243	GAA		PASS	0.443	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		26	129	26	129	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42531989	42531989	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr18:42531989A>G	ENST00000282030.5	+	4	2980	c.2684A>G	c.(2683-2685)gAt>gGt	p.D895G		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	895						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D895G(1)|p.D841G(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TACTCTTTTGATTTCTGCTCC	0.552									Schinzel-Giedion syndrome																													uc010dni.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(2683-2685)GAT>GGT		SET binding protein 1 isoform a							48.0	34.0	39.0					18																	42531989		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531989A>G	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2684A>G	18.37:g.42531989A>G	ENSP00000282030:p.Asp895Gly						p.D895G	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2980	+			895					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2684A>G	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	11.67	1.708842	0.30322	.	.	ENSG00000152217	ENST00000282030	D	0.91686	-2.89	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	N	0.24115	0.695	0.41869	D	0.990264	P	0.45474	0.859	B	0.41510	0.359	D	0.89905	0.4047	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	895	Q9Y6X0	SETBP_HUMAN	G	895	ENSP00000282030:D895G	ENSP00000282030:D895G	D	+	2	0	SETBP1	40785987	1.000000	0.71417	0.649000	0.29536	0.386000	0.30323	7.398000	0.79919	2.371000	0.80710	0.533000	0.62120	GAT		PASS	0.552	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		8	31	8	31	---	---	---	---
POLI	11201	broad.mit.edu	37	18	51813728	51813728	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr18:51813728G>T	ENST00000579534.1	+	8	1288	c.1145G>T	c.(1144-1146)cGt>cTt	p.R382L	POLI_ENST00000582366.1_3'UTR|POLI_ENST00000579434.1_Missense_Mutation_p.R279L|POLI_ENST00000406285.3_Missense_Mutation_p.R303L|POLI_ENST00000217800.5_Missense_Mutation_p.R256L	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	382	DNA binding.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R382L(1)|p.R357L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CACTATGGTCGTGAGAGTCGT	0.403								DNA polymerases (catalytic subunits)																														uc002lfj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(1144-1146)CGT>CTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase iota							90.0	83.0	86.0					18																	51813728		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51813728G>T		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1145G>T	18.37:g.51813728G>T	ENSP00000462664:p.Arg382Leu					POLI_uc010xds.1_Missense_Mutation_p.R303L|POLI_uc002lfk.3_Missense_Mutation_p.R279L|POLI_uc010dpg.2_5'UTR	p.R382L	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	8	1213	+			382			DNA binding.		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.1145G>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473239	0.43942	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.36340	1.26	5.55	4.68	0.58851	DNA polymerase, Y-family, little finger domain (2);	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.67337	-0.5696	10	0.59425	D	0.04	-16.6694	13.3022	0.60332	0.0771:0.0:0.9229:0.0	.	302;382	B7Z780;Q9UNA4	.;POLI_HUMAN	L	303;382	ENSP00000385196:R303L	ENSP00000217800:R382L	R	+	2	0	POLI	50067726	1.000000	0.71417	0.988000	0.46212	0.759000	0.43091	8.003000	0.88520	1.358000	0.45922	0.655000	0.94253	CGT		PASS	0.403	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		6	25	6	25	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67816221	67816221	+	Missense_Mutation	SNP	T	T	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr18:67816221T>G	ENST00000255674.6	-	17	2511	c.2225A>C	c.(2224-2226)aAa>aCa	p.K742T	RTTN_ENST00000437017.1_Missense_Mutation_p.K742T|RTTN_ENST00000454359.1_Missense_Mutation_p.K742T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	742					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.K742T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGAACTTGCTTTGCTTAGAAG	0.393																																						uc002lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(2224-2226)AAA>ACA		rotatin							152.0	144.0	147.0					18																	67816221		1852	4102	5954	SO:0001583	missense	25914						binding	g.chr18:67816221T>G	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2225A>C	18.37:g.67816221T>G	ENSP00000255674:p.Lys742Thr					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	p.K742T	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			17	2293	-		Esophageal squamous(42;0.129)	742					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.2225A>C	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.350055	0.41599	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.66280	3.57;-0.13;-0.2	5.06	3.9	0.45041	Armadillo-like helical (1);Armadillo-type fold (1);	0.403820	0.26334	N	0.024978	T	0.49287	0.1548	L	0.36672	1.1	0.29712	N	0.839302	B	0.31625	0.332	B	0.29440	0.102	T	0.50600	-0.8809	10	0.51188	T	0.08	.	9.8051	0.40789	0.0:0.0829:0.0:0.9171	.	742	Q86VV8	RTTN_HUMAN	T	742	ENSP00000255674:K742T;ENSP00000402352:K742T;ENSP00000399520:K742T	ENSP00000255674:K742T	K	-	2	0	RTTN	65967201	1.000000	0.71417	0.014000	0.15608	0.909000	0.53808	1.104000	0.31074	0.774000	0.33427	0.460000	0.39030	AAA		PASS	0.393	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		30	154	30	154	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72346592	72346592	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr18:72346592C>A	ENST00000299687.5	+	1	3617	c.3617C>A	c.(3616-3618)tCt>tAt	p.S1206Y	ZNF407_ENST00000582337.1_Missense_Mutation_p.S1206Y|ZNF407_ENST00000309902.6_Missense_Mutation_p.S1206Y|ZNF407_ENST00000577538.1_Missense_Mutation_p.S1206Y	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S1206Y(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCAGGAAGCTCTGCCTTAAAT	0.438																																						uc002llw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3616-3618)TCT>TAT		zinc finger protein 407 isoform 1							37.0	40.0	39.0					18																	72346592		1934	4110	6044	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72346592C>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3617C>A	18.37:g.72346592C>A	ENSP00000299687:p.Ser1206Tyr					ZNF407_uc010xfc.1_Missense_Mutation_p.S1206Y|ZNF407_uc010dqu.1_Missense_Mutation_p.S1206Y|ZNF407_uc002llu.2_Missense_Mutation_p.S1205Y	p.S1206Y	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	3674	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1206					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.3617C>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475451	0.26511	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10477	2.87;3.3	5.33	-0.223	0.13118	.	0.441533	0.20556	N	0.090015	T	0.12178	0.0296	L	0.29908	0.895	0.09310	N	1	P;P;P	0.47677	0.899;0.815;0.838	P;B;B	0.51355	0.667;0.387;0.276	T	0.15263	-1.0443	10	0.66056	D	0.02	.	9.3062	0.37876	0.0:0.2371:0.5973:0.1656	.	1206;1206;1206	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	Y	1206	ENSP00000299687:S1206Y;ENSP00000310359:S1206Y	ENSP00000299687:S1206Y	S	+	2	0	ZNF407	70475580	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	0.250000	0.18235	-1.034000	0.03295	-0.339000	0.08088	TCT		PASS	0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		7	42	7	42	---	---	---	---
ANGPTL4	51129	broad.mit.edu	37	19	8438651	8438651	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:8438651C>T	ENST00000301455.2	+	7	1273	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.P330S|RAB11B-AS1_ENST00000597407.1_RNA|RAB11B-AS1_ENST00000593581.1_RNA|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.P201S|RAB11B-AS1_ENST00000597785.1_RNA	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	368	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)	p.P368S(1)		large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CCGCTCCATCCCACAGCAGCG	0.612																																						uc002mjq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1102-1104)CCA>TCA		angiopoietin-like 4 protein isoform a precursor							116.0	128.0	124.0					19																	8438651		2203	4300	6503	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8438651C>T	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.1102C>T	19.37:g.8438651C>T	ENSP00000301455:p.Pro368Ser					ANGPTL4_uc002mjr.1_Missense_Mutation_p.P330S|ANGPTL4_uc010xkc.1_Missense_Mutation_p.P201S	p.P368S	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN			7	1297	+			368			Fibrinogen C-terminal.		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.1102C>T	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942486	0.73672	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.19669	2.13;2.13;2.13	5.37	5.37	0.77165	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.133470	0.51477	D	0.000094	T	0.33760	0.0874	L	0.31065	0.9	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.981	T	0.02917	-1.1094	10	0.19147	T	0.46	.	17.6684	0.88209	0.0:1.0:0.0:0.0	.	330;368	A8MY84;Q9BY76	.;ANGL4_HUMAN	S	368;330;201	ENSP00000301455:P368S;ENSP00000377534:P330S;ENSP00000439833:P201S	ENSP00000301455:P368S	P	+	1	0	ANGPTL4	8344651	0.997000	0.39634	0.089000	0.20774	0.593000	0.36681	5.583000	0.67484	2.509000	0.84616	0.467000	0.42956	CCA		PASS	0.612	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		79	403	79	403	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9017381	9017381	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:9017381G>A	ENST00000397910.4	-	26	38146	c.37943C>T	c.(37942-37944)cCc>cTc	p.P12648L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12650	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P12648L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGTGTAGGGGCCCAGCTC	0.557																																						uc002mkp.2																			1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37942-37944)CCC>CTC		mucin 16							207.0	196.0	200.0					19																	9017381		1958	4149	6107	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9017381G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37943C>T	19.37:g.9017381G>A	ENSP00000381008:p.Pro12648Leu						p.P12648L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			26	38147	-			12650			SEA 4.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37943C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	9.507	1.104737	0.20632	.	.	ENSG00000181143	ENST00000397910	T	0.24350	1.86	3.35	-2.45	0.06481	.	.	.	.	.	T	0.24851	0.0603	M	0.86178	2.8	.	.	.	B	0.31730	0.337	B	0.22152	0.038	T	0.24476	-1.0159	8	0.87932	D	0	.	3.0245	0.06086	0.2298:0.0:0.4087:0.3615	.	12648	B5ME49	.	L	12648	ENSP00000381008:P12648L	ENSP00000381008:P12648L	P	-	2	0	MUC16	8878381	0.007000	0.16637	0.008000	0.14137	0.120000	0.20174	0.234000	0.17930	-0.691000	0.05135	0.400000	0.26472	CCC		PASS	0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		68	418	68	418	---	---	---	---
OR7D2	162998	broad.mit.edu	37	19	9297353	9297353	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:9297353G>A	ENST00000344248.2	+	1	1075	c.896G>A	c.(895-897)gGa>gAa	p.G299E		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	299					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G299E(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GATGTGAAGGGAGCCCTGGGG	0.527																																						uc002mkz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(895-897)GGA>GAA		olfactory receptor, family 7, subfamily D,							50.0	52.0	51.0					19																	9297353		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9297353G>A	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.896G>A	19.37:g.9297353G>A	ENSP00000345563:p.Gly299Glu						p.G299E	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			1	1084	+			299			Cytoplasmic (Potential).		Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.896G>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	G	6.408	0.443394	0.12164	.	.	ENSG00000188000	ENST00000344248	T	0.35789	1.29	2.2	2.2	0.27929	.	0.643900	0.12773	U	0.440375	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	1	B	0.18863	0.031	B	0.23275	0.045	T	0.36286	-0.9754	10	0.02654	T	1	.	3.9639	0.09423	0.3122:0.0:0.6878:0.0	.	299	Q96RA2	OR7D2_HUMAN	E	299	ENSP00000345563:G299E	ENSP00000345563:G299E	G	+	2	0	OR7D2	9158353	0.000000	0.05858	0.054000	0.19295	0.025000	0.11179	-0.342000	0.07801	1.578000	0.49821	0.505000	0.49811	GGA		PASS	0.527	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			15	88	15	88	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9577788	9577788	+	Missense_Mutation	SNP	C	C	A	rs201868107	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:9577788C>A	ENST00000301480.4	-	10	2048	c.1835G>T	c.(1834-1836)cGc>cTc	p.R612L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R612L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAGATCTGAGCGTTCTGTGAA	0.413																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1834-1836)CGC>CTC		zinc finger protein 560							162.0	144.0	150.0					19																	9577788		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577788C>A	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1835G>T	19.37:g.9577788C>A	ENSP00000301480:p.Arg612Leu					ZNF560_uc010dwr.1_Missense_Mutation_p.R506L	p.R612L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	2045	-			612			C2H2-type 10.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1835G>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037489	0.35989	.	.	ENSG00000198028	ENST00000301480	T	0.14766	2.48	1.89	-0.444	0.12245	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.25286	0.73	0.09310	N	1	P	0.49185	0.92	B	0.31495	0.131	T	0.34428	-0.9829	9	0.10377	T	0.69	.	4.517	0.11939	0.1646:0.4896:0.3457:0.0	.	612	Q96MR9	ZN560_HUMAN	L	612	ENSP00000301480:R612L	ENSP00000301480:R612L	R	-	2	0	ZNF560	9438788	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	-3.256000	0.00538	-0.038000	0.13624	0.313000	0.20887	CGC		PASS	0.413	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		34	224	34	224	---	---	---	---
CCDC159	126075	broad.mit.edu	37	19	11460356	11460356	+	Missense_Mutation	SNP	A	A	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:11460356A>C	ENST00000588790.1	+	4	495	c.48A>C	c.(46-48)aaA>aaC	p.K16N	CCDC159_ENST00000458408.1_Missense_Mutation_p.K16N			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	131								p.K16N(1)|p.K131N(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCTCTTCCAAAGTCAAAGGTG	0.512																																						uc010xlw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(295-297)AAA>AAC		coiled-coil domain-containing-like							69.0	76.0	74.0					19																	11460356		1929	4146	6075	SO:0001583	missense	126075							g.chr19:11460356A>C	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.48A>C	19.37:g.11460356A>C	ENSP00000468232:p.Lys16Asn					CCDC159_uc010xlr.1_Missense_Mutation_p.K16N|CCDC159_uc010xls.1_Missense_Mutation_p.K16N|CCDC159_uc010xlt.1_Missense_Mutation_p.K16N|CCDC159_uc010xlu.1_Missense_Mutation_p.K15N|CCDC159_uc010xlv.1_Missense_Mutation_p.K15N	p.K99N	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN			3	376	+			131					B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	ENST00000588790.1	37	c.297A>C	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	A	9.967	1.224440	0.22457	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.50277	0.75	4.72	2.53	0.30540	.	.	.	.	.	T	0.54515	0.1863	L	0.56769	1.78	0.09310	N	1	D;P;D;D;D	0.63046	0.992;0.944;0.965;0.979;0.979	P;P;P;P;P	0.59948	0.866;0.714;0.726;0.801;0.801	T	0.38929	-0.9638	9	0.41790	T	0.15	-4.1933	4.8336	0.13453	0.6379:0.0:0.3621:0.0	.	131;131;15;16;16	P0C7I6;P0C7I6-4;P0C7I6-3;P0C7I6-2;P0C7I6-5	CC159_HUMAN;.;.;.;.	N	16;131	ENSP00000402239:K16N	ENSP00000390400:K131N	K	+	3	2	CCDC159	11321356	0.189000	0.23263	0.024000	0.17045	0.031000	0.12232	0.626000	0.24492	0.379000	0.24794	-0.376000	0.06991	AAA		PASS	0.512	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		4	36	4	36	---	---	---	---
STX10	8677	broad.mit.edu	37	19	13255227	13255227	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:13255227G>C	ENST00000587230.1	-	8	811	c.747C>G	c.(745-747)ctC>ctG	p.L249L	STX10_ENST00000242770.5_3'UTR|STX10_ENST00000589083.1_3'UTR|STX10_ENST00000343587.5_Silent_p.L200L	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	249					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.L249L(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GCTGGGGTCAGAGAGAGAATA	0.632																																						uc010xnb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(745-747)CTC>CTG		syntaxin 10							64.0	64.0	64.0					19																	13255227		2202	4299	6501	SO:0001819	synonymous_variant	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13255227G>C	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.747C>G	19.37:g.13255227G>C						STX10_uc002mwn.2_3'UTR|STX10_uc002mwo.2_3'UTR|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Silent_p.L150L	p.L249L	NM_003765	NP_003756	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		8	747	-			249			Helical; Anchor for type IV membrane protein; (Potential).		A6NC41|Q6IAP4|Q96AE8	Silent	SNP	ENST00000587230.1	37	c.747C>G	CCDS32922.1																																																																																				PASS	0.632	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		3	38	3	38	---	---	---	---
STX10	8677	broad.mit.edu	37	19	13255242	13255242	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:13255242G>C	ENST00000587230.1	-	8	796	c.732C>G	c.(730-732)atC>atG	p.I244M	STX10_ENST00000242770.5_3'UTR|STX10_ENST00000589083.1_3'UTR|STX10_ENST00000343587.5_Missense_Mutation_p.I195M	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	244					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.I244M(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			AGAATAGTAAGATGAGAACGA	0.627																																						uc010xnb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(730-732)ATC>ATG		syntaxin 10							86.0	82.0	83.0					19																	13255242		2203	4299	6502	SO:0001583	missense	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13255242G>C	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.732C>G	19.37:g.13255242G>C	ENSP00000466298:p.Ile244Met					STX10_uc002mwn.2_3'UTR|STX10_uc002mwo.2_3'UTR|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.I145M	p.I244M	NM_003765	NP_003756	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		8	732	-			244			Helical; Anchor for type IV membrane protein; (Potential).		A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	ENST00000587230.1	37	c.732C>G	CCDS32922.1	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102369	0.20632	.	.	ENSG00000104915	ENST00000343587;ENST00000242770	.	.	.	3.7	1.54	0.23209	.	0.256789	0.28927	N	0.013683	T	0.45054	0.1323	M	0.82323	2.585	0.09310	N	1	B;B	0.32467	0.372;0.119	B;B	0.27608	0.081;0.037	T	0.44159	-0.9346	9	0.62326	D	0.03	.	7.3197	0.26521	0.2086:0.0:0.7914:0.0	.	195;244	O60499-2;O60499	.;STX10_HUMAN	M	195;244	.	ENSP00000242770:I244M	I	-	3	3	STX10	13116242	1.000000	0.71417	0.001000	0.08648	0.019000	0.09904	3.327000	0.52045	0.232000	0.21100	0.462000	0.41574	ATC		PASS	0.627	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		5	39	5	39	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17951112	17951112	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:17951112G>A	ENST00000527670.1	-	8	1210	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	JAK3_ENST00000534444.1_Missense_Mutation_p.S394L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000458235.1_Missense_Mutation_p.S394L			P52333	JAK3_HUMAN	Janus kinase 3	394	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.S394L(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GCCAGGACGTGAGCCCCCAGT	0.572		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(1180-1182)TCA>TTA		Janus kinase 3							55.0	47.0	49.0					19																	17951112		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17951112G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1181C>T	19.37:g.17951112G>A	ENSP00000432511:p.Ser394Leu					JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.S394L|JAK3_uc010xpx.1_Missense_Mutation_p.S394L	p.S394L	NM_000215	NP_000206	P52333	JAK3_HUMAN			9	1281	-			394			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1181C>T	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	9.434	1.086317	0.20390	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.61859	0.07;0.07;0.07	4.8	3.69	0.42338	SH2 motif (2);	0.571456	0.17221	N	0.182334	T	0.69717	0.3142	M	0.61703	1.905	0.18873	N	0.999989	D;P;P	0.76494	0.999;0.881;0.807	D;P;B	0.68943	0.961;0.511;0.325	T	0.58994	-0.7537	10	0.66056	D	0.02	-19.2887	10.7997	0.46480	0.0:0.3307:0.6693:0.0	.	394;394;394	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	L	394	ENSP00000391676:S394L;ENSP00000432511:S394L;ENSP00000436421:S394L	ENSP00000413248:S394L	S	-	2	0	JAK3	17812112	0.000000	0.05858	0.606000	0.28943	0.008000	0.06430	0.709000	0.25734	2.226000	0.72624	0.557000	0.71058	TCA		PASS	0.572	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		17	68	17	68	---	---	---	---
ZNF570	148268	broad.mit.edu	37	19	37975043	37975043	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:37975043G>A	ENST00000330173.1	+	5	1048	c.519G>A	c.(517-519)caG>caA	p.Q173Q	ZNF570_ENST00000586475.1_Silent_p.Q229Q|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q173Q(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTTTCATCAGAACCCACTGC	0.348																																						uc002ogk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(517-519)CAG>CAA		zinc finger protein 570							115.0	126.0	122.0					19																	37975043		2203	4300	6503	SO:0001819	synonymous_variant	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37975043G>A	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.519G>A	19.37:g.37975043G>A						ZNF570_uc010efl.1_Silent_p.Q229Q|ZNF570_uc010xtr.1_5'UTR	p.Q173Q	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1048	+			173					A1L472|B4DMP1	Silent	SNP	ENST00000330173.1	37	c.519G>A	CCDS12504.1																																																																																				PASS	0.348	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		65	242	65	242	---	---	---	---
ZNF793	390927	broad.mit.edu	37	19	38028524	38028524	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:38028524G>A	ENST00000587143.1	+	6	1199	c.964G>A	c.(964-966)Gag>Aag	p.E322K	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.E322K|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Missense_Mutation_p.E322K			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E322K(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCGTTTGGTGAGAAGTCATA	0.468																																					Melanoma(44;400 1431 1499 19093)	uc010efm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(964-966)GAG>AAG		zinc finger protein 793							89.0	98.0	95.0					19																	38028524		2175	4285	6460	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028524G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.964G>A	19.37:g.38028524G>A	ENSP00000468605:p.Glu322Lys					ZNF793_uc010xts.1_Missense_Mutation_p.E322K|ZNF793_uc010efo.2_Intron	p.E322K	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1406	+			322			C2H2-type 4.		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.964G>A	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105512	0.77096	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.35789	1.29;1.29	4.11	2.98	0.34508	.	0.000000	0.37955	N	0.001869	T	0.20210	0.0486	N	0.11131	0.1	0.23449	N	0.997653	P	0.46784	0.884	P	0.45474	0.482	T	0.04607	-1.0939	10	0.44086	T	0.13	.	5.8694	0.18795	0.1104:0.2829:0.6067:0.0	.	322	E9PGN4	.	K	322;322;322;321	ENSP00000444355:E322K;ENSP00000396402:E322K	ENSP00000318811:E321K	E	+	1	0	ZNF793	42720364	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.597000	0.02089	2.267000	0.75376	0.637000	0.83480	GAG		PASS	0.468	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		9	65	9	65	---	---	---	---
ECH1	1891	broad.mit.edu	37	19	39307163	39307163	+	Splice_Site	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:39307163C>A	ENST00000221418.4	-	7	821	c.589G>T	c.(589-591)Gag>Tag	p.E197*		NM_001398.2	NP_001389.2	Q13011	ECH1_HUMAN	enoyl CoA hydratase 1, peroxisomal	197		Important for catalytic activity. {ECO:0000250}.			fatty acid beta-oxidation (GO:0006635)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	isomerase activity (GO:0016853)|receptor binding (GO:0005102)	p.E197*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACGTCCACCTCCTGGGGGAGG	0.597																																						uc002oji.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(589-591)GAG>TAG		peroxisomal enoyl-coenzyme A hydratase-like							76.0	72.0	74.0					19																	39307163		2203	4300	6503	SO:0001630	splice_region_variant	1891				fatty acid beta-oxidation|generation of precursor metabolites and energy	mitochondrion|peroxisome	enoyl-CoA hydratase activity|isomerase activity|protein binding	g.chr19:39307163C>A	U16660	CCDS33014.1	19q13.1	2010-04-30	2010-04-30			ENSG00000104823			3149	protein-coding gene	gene with protein product		600696	"""enoyl Coenzyme A hydratase 1, peroxisomal"""			7558027	Standard	XM_005258610		Approved	HPXEL		Q13011		ENST00000221418.4:c.589-1G>T	19.37:g.39307163C>A						ECH1_uc002ojh.2_Nonsense_Mutation_p.E77*	p.E197*	NM_001398	NP_001389	Q13011	ECH1_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		7	674	-	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		197				Important for catalytic activity (By similarity).	A8K745|Q8WVX0|Q96EZ9	Nonsense_Mutation	SNP	ENST00000221418.4	37	c.589G>T	CCDS33014.1	.	.	.	.	.	.	.	.	.	.	N	30	5.055218	0.93793	.	.	ENSG00000104823	ENST00000221418	.	.	.	4.5	3.45	0.39498	.	0.056738	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7403	0.62845	0.0:0.8438:0.1562:0.0	.	.	.	.	X	197	.	ENSP00000221418:E197X	E	-	1	0	ECH1	43999003	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.719000	0.74718	1.214000	0.43395	-0.305000	0.09177	GAG		PASS	0.597	ECH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462650.1		Nonsense_Mutation	5	63	5	63	---	---	---	---
NKPD1	284353	broad.mit.edu	37	19	45655260	45655260	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:45655260C>A	ENST00000438936.2	-	3	1980	c.1769G>T	c.(1768-1770)gGc>gTc	p.G590V	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000317951.4_Missense_Mutation_p.G812V|NKPD1_ENST00000429338.1_Missense_Mutation_p.G511V|NKPD1_ENST00000589776.1_Missense_Mutation_p.G590V			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	590						integral component of membrane (GO:0016021)		p.G590V(1)		endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CCATAGCTTGCCCCTGTGGGC	0.701																																						uc010xxi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2434-2436)GGC>GTC		NTPase, KAP family P-loop domain containing 1							14.0	14.0	14.0					19																	45655260		1849	4031	5880	SO:0001583	missense	284353							g.chr19:45655260C>A	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1769G>T	19.37:g.45655260C>A	ENSP00000401739:p.Gly590Val						p.G812V	NM_198478	NP_940880				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	2435	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37	c.2435G>T		.	.	.	.	.	.	.	.	.	.	C	8.869	0.948936	0.18356	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.64085	1.0;0.94;-0.08	5.3	-1.17	0.09648	.	0.642001	0.13919	N	0.353667	T	0.34250	0.0891	N	0.12182	0.205	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.10753	-1.0616	10	0.27785	T	0.31	-6.0938	3.3214	0.07052	0.1272:0.4787:0.2472:0.1469	.	590	Q17RQ9	NKPD1_HUMAN	V	812;590;511	ENSP00000321976:G812V;ENSP00000401739:G590V;ENSP00000404706:G511V	ENSP00000321976:G812V	G	-	2	0	NKPD1	50347100	0.000000	0.05858	0.009000	0.14445	0.019000	0.09904	-0.352000	0.07701	-0.226000	0.09899	-0.254000	0.11334	GGC		PASS	0.701	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		4	51	4	51	---	---	---	---
SAE1	10055	broad.mit.edu	37	19	47700589	47700589	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:47700589A>G	ENST00000270225.7	+	7	901	c.833A>G	c.(832-834)gAc>gGc	p.D278G	SAE1_ENST00000413379.3_Intron|SAE1_ENST00000540850.1_Missense_Mutation_p.D104G|SAE1_ENST00000392776.3_Intron|SAE1_ENST00000598840.1_Missense_Mutation_p.D197G	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	278					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)	p.D278G(1)		endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		GATGTGCTTGACTCACTGGGT	0.418																																						uc002pgc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(832-834)GAC>GGC		SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;							246.0	214.0	225.0					19																	47700589		2203	4300	6503	SO:0001583	missense	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47700589A>G	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.833A>G	19.37:g.47700589A>G	ENSP00000270225:p.Asp278Gly					SAE1_uc002pgd.2_Intron|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.D104G|SAE1_uc002pge.2_Missense_Mutation_p.D214G	p.D278G	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	7	889	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	278					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	c.833A>G	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.161018	0.38119	.	.	ENSG00000142230	ENST00000270225;ENST00000540850	T;T	0.40225	1.04;1.04	6.07	6.07	0.98685	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.194776	0.53938	D	0.000054	T	0.27663	0.0680	N	0.16478	0.41	0.47276	D	0.999377	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08534	-1.0717	10	0.30078	T	0.28	.	12.0177	0.53324	0.8558:0.1442:0.0:0.0	.	104;278	B4DY66;Q9UBE0	.;SAE1_HUMAN	G	278;104	ENSP00000270225:D278G;ENSP00000440955:D104G	ENSP00000270225:D278G	D	+	2	0	SAE1	52392429	1.000000	0.71417	0.518000	0.27811	0.807000	0.45602	4.661000	0.61518	2.326000	0.78906	0.533000	0.62120	GAC		PASS	0.418	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		59	234	59	234	---	---	---	---
ADM5	199800	broad.mit.edu	37	19	50193365	50193365	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:50193365G>A	ENST00000420022.3	+	2	1251	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	CPT1C_ENST00000392518.4_5'Flank|CPT1C_ENST00000323446.5_5'Flank|CPT1C_ENST00000405931.2_5'Flank|CPT1C_ENST00000354199.5_5'Flank|CPT1C_ENST00000598293.1_5'Flank|CTB-33G10.6_ENST00000596472.1_RNA	NM_001101340.1	NP_001094810.1	C9JUS6	ADM5_HUMAN	adrenomedullin 5 (putative)	26						extracellular region (GO:0005576)		p.R26Q(1)									CTCTCCAGGCGAGGCCAGCAC	0.637											OREG0025628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pph.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)CGA>CAA		hypothetical protein LOC199800							7.0	9.0	8.0					19																	50193365		2023	4113	6136	SO:0001583	missense	199800					extracellular region		g.chr19:50193365G>A	BC032764	CCDS46146.1	19q13.33	2012-12-07	2012-12-07	2012-10-29	ENSG00000224420	ENSG00000224420			27293	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 76"", ""adrenomedullin 5 homolog (pig)"""	C19orf76		18434369	Standard	NM_001101340		Approved	AM5	uc002pph.2	C9JUS6		ENST00000420022.3:c.77G>A	19.37:g.50193365G>A	ENSP00000393631:p.Arg26Gln		OREG0025628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	967	CPT1C_uc002ppl.3_5'Flank|CPT1C_uc002ppi.2_5'Flank|CPT1C_uc002ppk.2_5'Flank|CPT1C_uc010eng.2_5'Flank|CPT1C_uc010enh.2_5'Flank|CPT1C_uc002ppj.2_5'Flank|CPT1C_uc010ybc.1_5'Flank	p.R26Q	NM_001101340	NP_001094810	C9JUS6	ADM5_HUMAN			2	1230	+			26						Missense_Mutation	SNP	ENST00000420022.3	37	c.77G>A	CCDS46146.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930252	0.34096	.	.	ENSG00000224420	ENST00000420022	.	.	.	2.49	-4.63	0.03359	.	.	.	.	.	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B	0.32893	0.389	B	0.16722	0.016	T	0.24584	-1.0156	8	0.21014	T	0.42	.	0.1983	0.00142	0.2429:0.1686:0.247:0.3415	.	26	C9JUS6	ADM5_HUMAN	Q	26	.	ENSP00000393631:R26Q	R	+	2	0	C19orf76	54885177	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.639000	0.05446	-0.988000	0.03489	-0.264000	0.10439	CGA		PASS	0.637	ADM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465777.1	NM_001101340		5	5	5	5	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274865	51274865	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:51274865G>A	ENST00000270590.4	+	1	1145	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	336					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A336A(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGCCCTGGCGAGGGCGTTTG	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1006-1008)GCG>GCA		G protein-coupled receptor 32							65.0	70.0	69.0					19																	51274865		2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274865G>A	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.1008G>A	19.37:g.51274865G>A							p.A336A	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	1008	+		all_neural(266;0.131)	336			Cytoplasmic (Potential).		Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.1008G>A	CCDS12801.1																																																																																				PASS	0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			21	190	21	190	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090506	52090506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:52090506G>T	ENST00000262259.2	+	5	1280	c.922G>T	c.(922-924)Gaa>Taa	p.E308*	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	308					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E308*(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AAACCTCCATGAATGTGGCAA	0.438																																						uc002pxb.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(922-924)GAA>TAA		zinc finger protein 175							91.0	94.0	93.0					19																	52090506		2203	4300	6503	SO:0001587	stop_gained	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090506G>T	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.922G>T	19.37:g.52090506G>T	ENSP00000262259:p.Glu308*						p.E308*	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1300	+		all_neural(266;0.0299)	308			C2H2-type 2; atypical.		A8K9H2	Nonsense_Mutation	SNP	ENST00000262259.2	37	c.922G>T	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015033	0.75161	.	.	ENSG00000105497	ENST00000262259	.	.	.	2.43	0.299	0.15771	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	6.219	0.20671	0.2766:0.0:0.7234:0.0	.	.	.	.	X	308	.	ENSP00000262259:E308X	E	+	1	0	ZNF175	56782318	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	-0.359000	0.07632	0.148000	0.19059	0.655000	0.94253	GAA		PASS	0.438	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		32	186	32	186	---	---	---	---
ZNF578	147660	broad.mit.edu	37	19	53005153	53005153	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:53005153C>G	ENST00000421239.2	+	4	299	c.55C>G	c.(55-57)Ctt>Gtt	p.L19V		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L19V(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGGCATGGCTCTTCCTCAGGT	0.383																																						uc002pzp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(55-57)CTT>GTT		zinc finger protein 578							129.0	130.0	129.0					19																	53005153		2203	4297	6500	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53005153C>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.55C>G	19.37:g.53005153C>G	ENSP00000459216:p.Leu19Val						p.L19V	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	4	299	+			Error:Variant_position_missing_in_Q96N58_after_alignment					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.55C>G	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	c	8.219	0.802028	0.16397	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.01	-0.273	0.12915	.	.	.	.	.	T	0.39118	0.1066	L	0.28694	0.88	0.09310	N	1	P	0.49696	0.927	D	0.67725	0.953	T	0.22977	-1.0201	7	.	.	.	.	4.8029	0.13305	0.0:0.6002:0.3998:0.0	.	19	G3V4F6	.	V	19	.	.	L	+	1	0	ZNF578	57696965	0.000000	0.05858	0.070000	0.20053	0.525000	0.34531	-0.896000	0.04114	0.001000	0.14605	0.297000	0.19635	CTT		PASS	0.383	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		32	187	32	187	---	---	---	---
ZNF578	147660	broad.mit.edu	37	19	53015037	53015037	+	Nonsense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:53015037C>G	ENST00000421239.2	+	6	1647	c.1403C>G	c.(1402-1404)tCa>tGa	p.S468*	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S468*(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGTCAGAAATCAAACCTTGAG	0.393																																						uc002pzp.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1402-1404)TCA>TGA		zinc finger protein 578							58.0	63.0	61.0					19																	53015037		2200	4299	6499	SO:0001587	stop_gained	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53015037C>G	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1403C>G	19.37:g.53015037C>G	ENSP00000459216:p.Ser468*						p.S468*	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1647	+			243			C2H2-type 9.		B4DR51|I3L1Y6	Nonsense_Mutation	SNP	ENST00000421239.2	37	c.1403C>G	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	16.83	3.232412	0.58777	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	0.0408	0.14211	.	.	.	.	.	.	.	.	.	.	.	0.49915	D	0.999833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6566	0.34066	0.0:0.7626:0.2374:0.0	.	.	.	.	X	468	.	.	S	+	2	0	ZNF578	57706849	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.798000	0.04565	0.835000	0.34877	0.297000	0.19635	TCA		PASS	0.393	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		13	86	13	86	---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54416138	54416138	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:54416138C>A	ENST00000391767.1	+	2	265	c.53C>A	c.(52-54)gCg>gAg	p.A18E	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.A18E|CACNG7_ENST00000391766.1_Missense_Mutation_p.A18E			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	18					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A18E(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GTGTTTGGTGCGTGTGGCCTG	0.632																																						uc002qcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(52-54)GCG>GAG		voltage-dependent calcium channel gamma-7							69.0	54.0	59.0					19																	54416138		2203	4300	6503	SO:0001583	missense	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54416138C>A	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.53C>A	19.37:g.54416138C>A	ENSP00000375647:p.Ala18Glu					CACNG7_uc010era.1_Missense_Mutation_p.A18E	p.A18E	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	1	68	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		18			Helical; (Potential).		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.53C>A	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588308	0.86851	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.89552	-2.53;-2.53;-2.53	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	L	0.29908	0.895	0.80722	D	1	P	0.50443	0.935	P	0.53185	0.72	D	0.86048	0.1524	10	0.32370	T	0.25	-27.8816	14.64	0.68717	0.0:1.0:0.0:0.0	.	18	P62955	CCG7_HUMAN	E	18	ENSP00000375647:A18E;ENSP00000222212:A18E;ENSP00000375646:A18E	ENSP00000222212:A18E	A	+	2	0	CACNG7	59107950	0.991000	0.36638	0.881000	0.34555	0.929000	0.56500	2.847000	0.48270	2.411000	0.81874	0.561000	0.74099	GCG		PASS	0.632	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			10	70	10	70	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327338	57327338	+	Silent	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:57327338G>T	ENST00000326441.9	-	10	2835	c.2472C>A	c.(2470-2472)acC>acA	p.T824T	PEG3_ENST00000423103.2_Silent_p.T824T|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.T698T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.T700T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	824					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.T824T(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCCTTCAGAGGTGTTCCCTC	0.453																																						uc002qnu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2470-2472)ACC>ACA		paternally expressed 3 isoform 1							125.0	118.0	120.0					19																	57327338		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327338G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2472C>A	19.37:g.57327338G>T						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.T795T|PEG3_uc002qnv.2_Silent_p.T824T|PEG3_uc002qnw.2_Silent_p.T700T|PEG3_uc002qnx.2_Silent_p.T698T|PEG3_uc010etr.2_Silent_p.T824T	p.T824T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2823	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	824					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.2472C>A	CCDS12948.1																																																																																				PASS	0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			46	207	46	207	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58551845	58551845	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:58551845C>T	ENST00000282326.1	+	4	645	c.398C>T	c.(397-399)cCc>cTc	p.P133L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	133					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.P133L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCGGTCGAACCCCAGGACTGG	0.612																																						uc002qrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(397-399)CCC>CTC		zinc finger and SCAN domain containing 1							117.0	127.0	123.0					19																	58551845		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58551845C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.398C>T	19.37:g.58551845C>T	ENSP00000282326:p.Pro133Leu						p.P133L	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	4	645	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	133					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.398C>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044368	0.36085	.	.	ENSG00000152467	ENST00000282326	T	0.04119	3.7	1.09	0.00601	0.14065	Transcription regulator SCAN (1);	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.46884	-0.9159	9	0.30078	T	0.28	.	2.2171	0.03963	0.4493:0.3205:0.2303:0.0	.	133	Q8NBB4	ZSCA1_HUMAN	L	133	ENSP00000282326:P133L	ENSP00000282326:P133L	P	+	2	0	ZSCAN1	63243657	0.001000	0.12720	0.051000	0.19133	0.927000	0.56198	-0.324000	0.07986	-0.561000	0.06094	-0.824000	0.03097	CCC		PASS	0.612	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		41	458	41	458	---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58601475	58601475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:58601475C>A	ENST00000240727.6	-	2	559	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Nonsense_Mutation_p.E54*|ZSCAN18_ENST00000600404.1_Nonsense_Mutation_p.E110*	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	54	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E54*(1)|p.E54K(1)|p.E110*(1)|p.E110K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TAGACAAATTCCCGGAAACGC	0.677																																						uc002qri.2																			4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(4)		0						c.(160-162)GAA>TAA		zinc finger and SCAN domain containing 18							29.0	32.0	31.0					19																	58601475		2202	4297	6499	SO:0001587	stop_gained	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58601475C>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.160G>T	19.37:g.58601475C>A	ENSP00000240727:p.Glu54*					ZSCAN18_uc002qrj.3_Nonsense_Mutation_p.E54*|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Nonsense_Mutation_p.E54*|ZSCAN18_uc010yht.1_Nonsense_Mutation_p.E110*|ZSCAN18_uc002qrk.1_Nonsense_Mutation_p.E54*|ZSCAN18_uc002qrl.2_Nonsense_Mutation_p.E54*	p.E54*	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	2	469	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	54			SCAN box.		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Nonsense_Mutation	SNP	ENST00000240727.6	37	c.160G>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	39	7.616064	0.98390	.	.	ENSG00000121413	ENST00000433686;ENST00000240727	.	.	.	3.53	1.37	0.22104	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6981	4.5644	0.12175	0.0:0.6513:0.0:0.3487	.	.	.	.	X	110;54	.	ENSP00000240727:E54X	E	-	1	0	ZSCAN18	63293287	0.000000	0.05858	0.318000	0.25279	0.936000	0.57629	-0.519000	0.06260	0.669000	0.31146	0.561000	0.74099	GAA		PASS	0.677	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		4	101	4	101	---	---	---	---
HAO1	54363	broad.mit.edu	37	20	7886903	7886903	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:7886903C>T	ENST00000378789.3	-	4	670	c.619G>A	c.(619-621)Gca>Aca	p.A207T		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	207	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.A207T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCACATATGCAGCAAGTCCA	0.373																																						uc002wmw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(619-621)GCA>ACA		hydroxyacid oxidase 1							126.0	121.0	123.0					20																	7886903		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7886903C>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.619G>A	20.37:g.7886903C>T	ENSP00000368066:p.Ala207Thr					HAO1_uc010gbu.2_Missense_Mutation_p.A207T	p.A207T	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			4	643	-			207			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.619G>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631786	0.29068	.	.	ENSG00000101323	ENST00000378789	T	0.30714	1.52	5.54	1.8	0.24995	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.628151	0.16895	N	0.195154	T	0.21881	0.0527	L	0.39245	1.2	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.17592	-1.0364	10	0.30854	T	0.27	-0.0384	7.6977	0.28604	0.0:0.7021:0.1237:0.1742	.	207;207	A8K058;Q9UJM8	.;HAOX1_HUMAN	T	207	ENSP00000368066:A207T	ENSP00000368066:A207T	A	-	1	0	HAO1	7834903	0.991000	0.36638	0.751000	0.31187	0.971000	0.66376	2.750000	0.47500	0.426000	0.26116	0.591000	0.81541	GCA		PASS	0.373	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			58	161	58	161	---	---	---	---
MACROD2	140733	broad.mit.edu	37	20	15480442	15480442	+	Missense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:15480442G>T	ENST00000310348.4	+	8	595	c.595G>T	c.(595-597)Gtc>Ttc	p.V199F	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000217246.4_Missense_Mutation_p.V199F			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	199	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.V199F(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GCCTGCTGCAGTCATTGCCCT	0.438																																						uc002wou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)GTC>TTC		MACRO domain containing 2 isoform 1							147.0	139.0	142.0					20																	15480442		1976	4160	6136	SO:0001583	missense	140733							g.chr20:15480442G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.595G>T	20.37:g.15480442G>T	ENSP00000309809:p.Val199Phe					MACROD2_uc002wot.2_Missense_Mutation_p.V199F|MACROD2_uc002woz.2_5'UTR	p.V199F	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			8	859	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	199			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.595G>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.606085	0.46527	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.22336	1.96;1.96	5.86	-2.14	0.07123	Appr-1-p processing (3);	0.370325	0.21285	N	0.077089	T	0.16981	0.0408	L	0.45137	1.4	0.09310	N	1	P;P	0.44260	0.81;0.83	B;B	0.44085	0.44;0.209	T	0.13818	-1.0495	10	0.59425	D	0.04	-0.1279	7.2422	0.26102	0.4446:0.1111:0.4442:0.0	.	199;199	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	F	199	ENSP00000217246:V199F;ENSP00000309809:V199F	ENSP00000217246:V199F	V	+	1	0	MACROD2	15428442	0.000000	0.05858	0.533000	0.28001	0.975000	0.68041	-0.523000	0.06230	-0.110000	0.12022	0.650000	0.86243	GTC		PASS	0.438	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		10	68	10	68	---	---	---	---
SUN5	140732	broad.mit.edu	37	20	31590418	31590418	+	Silent	SNP	C	C	G	rs376720906		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:31590418C>G	ENST00000356173.3	-	3	278	c.186G>C	c.(184-186)ctG>ctC	p.L62L	SUN5_ENST00000375519.2_Silent_p.L62L|SUN5_ENST00000375523.3_Intron	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	62					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L62L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGCACTGAGTCAGGCCTAGGG	0.532																																						uc002wyi.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(184-186)CTG>CTC		sperm associated antigen 4-like							195.0	142.0	160.0					20																	31590418		2203	4300	6503	SO:0001819	synonymous_variant	140732				spermatogenesis			g.chr20:31590418C>G	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.186G>C	20.37:g.31590418C>G							p.L62L	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			3	279	-			62					A6NJ82|Q5T9R0	Silent	SNP	ENST00000356173.3	37	c.186G>C	CCDS13209.1																																																																																				PASS	0.532	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		22	110	22	110	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33876708	33876708	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:33876708G>C	ENST00000374408.3	-	2	663	c.567C>G	c.(565-567)ctC>ctG	p.L189L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	189								p.L189L(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGCCTCCATGAGGTCACACA	0.597																																						uc010zux.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(565-567)CTC>CTG		hypothetical protein LOC128876							102.0	87.0	92.0					20																	33876708		2203	4300	6503	SO:0001819	synonymous_variant	128876							g.chr20:33876708G>C	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.567C>G	20.37:g.33876708G>C						FAM83C_uc002xcb.1_Silent_p.L13L	p.L189L	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	685	-			189					Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	c.567C>G	CCDS13251.1																																																																																				PASS	0.597	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			68	194	68	194	---	---	---	---
RBM12	10137	broad.mit.edu	37	20	34241396	34241396	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:34241396G>A	ENST00000374114.3	-	3	2112	c.1849C>T	c.(1849-1851)Cat>Tat	p.H617Y	RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.H617Y|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.H617Y|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	617						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H617Y(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTAACTACATGAACAAAAGCT	0.418																																						uc002xdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1849-1851)CAT>TAT		RNA binding motif protein 12							151.0	147.0	149.0					20																	34241396		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241396G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1849C>T	20.37:g.34241396G>A	ENSP00000363228:p.His617Tyr					CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.H617Y|RBM12_uc002xds.2_Missense_Mutation_p.H617Y	p.H617Y	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2081	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		617					B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1849C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925013	0.52759	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.05855	3.38;3.38;3.38	5.01	5.01	0.66863	RNA recognition motif domain (1);	0.066278	0.64402	D	0.000011	T	0.11707	0.0285	L	0.38531	1.155	0.80722	D	1	P	0.43287	0.802	P	0.51193	0.662	T	0.01574	-1.1321	10	0.52906	T	0.07	-7.938	14.2651	0.66113	0.0:0.0:0.8507:0.1493	.	617	Q9NTZ6	RBM12_HUMAN	Y	617;617;617;416	ENSP00000363228:H617Y;ENSP00000352668:H617Y;ENSP00000363217:H617Y	ENSP00000339879:H416Y	H	-	1	0	RBM12	33704810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.303000	0.78871	2.587000	0.87381	0.563000	0.77884	CAT		PASS	0.418	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		79	421	79	421	---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39794432	39794432	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:39794432G>C	ENST00000373271.1	+	16	2170	c.1765G>C	c.(1765-1767)Gag>Cag	p.E589Q	PLCG1_ENST00000244007.3_Missense_Mutation_p.E589Q|PLCG1_ENST00000373272.2_Missense_Mutation_p.E589Q	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	589	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.E589Q(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCGAGAGAGTGAGACCTTCGT	0.582																																						uc002xjp.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|skin(2)	8						c.(1765-1767)GAG>CAG		phospholipase C, gamma 1 isoform b							65.0	61.0	62.0					20																	39794432		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39794432G>C	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1765G>C	20.37:g.39794432G>C	ENSP00000362368:p.Glu589Gln					PLCG1_uc002xjo.1_Missense_Mutation_p.E589Q|PLCG1_uc010zwe.1_Missense_Mutation_p.E215Q|PLCG1_uc010ggf.2_5'Flank	p.E589Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN			16	1886	+		Myeloproliferative disorder(115;0.00878)	589			SH2 1.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.1765G>C	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276126	0.80580	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.90069	-2.61;-2.61;-2.61	4.95	4.01	0.46588	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology domain (1);SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71414	0.955;0.945;0.973	D	0.90208	0.4262	10	0.37606	T	0.19	.	13.46	0.61221	0.0753:0.0:0.9247:0.0	.	589;589;589	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	Q	589	ENSP00000244007:E589Q;ENSP00000362368:E589Q;ENSP00000362369:E589Q	ENSP00000244007:E589Q	E	+	1	0	PLCG1	39227846	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.263000	0.95617	1.339000	0.45563	0.561000	0.74099	GAG		PASS	0.582	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		20	132	20	132	---	---	---	---
GDAP1L1	78997	broad.mit.edu	37	20	42907914	42907914	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:42907914T>C	ENST00000342560.5	+	6	1166	c.1078T>C	c.(1078-1080)Tgg>Cgg	p.W360R	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.W168R	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	360								p.W360R(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTTTGCCTACTGGTACCTCAA	0.562																																						uc002xlq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1078-1080)TGG>CGG		ganglioside-induced differentiation-associated							91.0	85.0	87.0					20																	42907914		2203	4300	6503	SO:0001583	missense	78997							g.chr20:42907914T>C		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.1078T>C	20.37:g.42907914T>C	ENSP00000341782:p.Trp360Arg					GDAP1L1_uc010zwl.1_Missense_Mutation_p.W379R|GDAP1L1_uc010zwm.1_Missense_Mutation_p.W302R|GDAP1L1_uc010zwn.1_Missense_Mutation_p.W168R	p.W360R	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1145	+		Myeloproliferative disorder(115;0.0122)	360					B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.1078T>C	CCDS13328.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969278	0.74246	.	.	ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000537864	D;D	0.98474	-4.95;-4.95	5.12	5.12	0.69794	.	0.059510	0.64402	D	0.000001	D	0.96984	0.9015	N	0.19112	0.55	0.80722	D	1	D;D;D	0.62365	0.971;0.991;0.989	P;P;P	0.55871	0.641;0.786;0.726	D	0.97950	1.0331	10	0.62326	D	0.03	.	15.2138	0.73247	0.0:0.0:0.0:1.0	.	302;379;360	B7Z1I3;B7Z621;Q96MZ0	.;.;GD1L1_HUMAN	R	360;355;302;326;168	ENSP00000341782:W360R;ENSP00000440498:W168R	ENSP00000341782:W360R	W	+	1	0	GDAP1L1	42341328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.558000	0.82253	2.056000	0.61249	0.472000	0.43445	TGG		PASS	0.562	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		34	190	34	190	---	---	---	---
WFDC8	90199	broad.mit.edu	37	20	44180702	44180702	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:44180702G>C	ENST00000357199.4	-	6	767	c.689C>G	c.(688-690)tCa>tGa	p.S230*	WFDC8_ENST00000289953.2_Nonsense_Mutation_p.S230*	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	230	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S230*(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TCCACAATGTGAGCAGCACTT	0.413																																						uc002xow.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(688-690)TCA>TGA		WAP four-disulfide core domain 8 precursor							155.0	138.0	144.0					20																	44180702		2203	4300	6503	SO:0001587	stop_gained	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44180702G>C	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.689C>G	20.37:g.44180702G>C	ENSP00000361735:p.Ser230*					WFDC8_uc002xox.2_Nonsense_Mutation_p.S230*	p.S230*	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			6	768	-		Myeloproliferative disorder(115;0.0122)	230			WAP 3.		E1P623|Q5TDV2|Q96A34	Nonsense_Mutation	SNP	ENST00000357199.4	37	c.689C>G	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348759	0.41599	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	.	.	.	4.64	3.69	0.42338	.	0.908822	0.09187	N	0.836593	.	.	.	.	.	.	0.39663	D	0.970636	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.7715	0.34735	0.1038:0.0:0.8962:0.0	.	.	.	.	X	230	.	ENSP00000289953:S230X	S	-	2	0	WFDC8	43614116	0.125000	0.22332	0.463000	0.27130	0.042000	0.13812	1.711000	0.37930	1.306000	0.44926	0.551000	0.68910	TCA		PASS	0.413	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			46	201	46	201	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47587750	47587750	+	Silent	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:47587750C>T	ENST00000371917.4	+	10	1284	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	428					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.F428F(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACGAGATGTTCATCAATGCAA	0.493																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|upper_aerodigestive_tract(1)	4						c.(1282-1284)TTC>TTT		ADP-ribosylation factor guanine							204.0	179.0	188.0					20																	47587750		2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47587750C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1284C>T	20.37:g.47587750C>T							p.F428F	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		10	1436	+			428					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.1284C>T	CCDS13411.1																																																																																				PASS	0.493	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		10	291	10	291	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58442822	58442822	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:58442822C>G	ENST00000357552.3	-	39	4294	c.4069G>C	c.(4069-4071)Gag>Cag	p.E1357Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1357Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1357					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.E1357Q(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TAAGTCATCTCTATCCCTGCA	0.303																																						uc002yaz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(4069-4071)GAG>CAG		synaptonemal complex protein 2							59.0	62.0	61.0					20																	58442822		2203	4295	6498	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58442822C>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4069G>C	20.37:g.58442822C>G	ENSP00000350162:p.Glu1357Gln						p.E1357Q	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		38	4208	-	all_lung(29;0.00344)		1357					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.4069G>C	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	3.559	-0.090082	0.07053	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.14640	2.49;2.49	4.96	3.03	0.35002	.	0.692187	0.13481	N	0.384678	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	B	0.32160	0.358	B	0.27076	0.076	T	0.39800	-0.9596	10	0.17832	T	0.49	0.187	7.0334	0.24980	0.0:0.7158:0.0:0.2842	.	1357	Q9BX26	SYCP2_HUMAN	Q	1357;1357;43	ENSP00000360040:E1357Q;ENSP00000350162:E1357Q	ENSP00000350162:E1357Q	E	-	1	0	SYCP2	57876217	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.487000	0.22356	0.497000	0.27926	-0.229000	0.12294	GAG		PASS	0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		9	44	9	44	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60895861	60895861	+	Silent	SNP	G	G	A	rs376826551		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:60895861G>A	ENST00000252999.3	-	49	6648	c.6582C>T	c.(6580-6582)ggC>ggT	p.G2194G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2194	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.G2194G(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCATTGATGCCACGCAGTT	0.657																																						uc002ycq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(6580-6582)GGC>GGT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)			1,4359		0,1,2179	50.0	45.0	47.0		6582	-3.3	0.0	20		47	0,8564		0,0,4282	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6461	AA,AG,GG		0.0,0.0229,0.0077		2194/3696	60895861	1,12923	2180	4282	6462	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60895861G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6582C>T	20.37:g.60895861G>A							p.G2194G	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		49	6649	-	Breast(26;1.57e-08)		2194			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.6582C>T	CCDS33502.1																																																																																				PASS	0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		36	91	36	91	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60905967	60905967	+	Silent	SNP	C	C	T	rs377046682		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr20:60905967C>T	ENST00000252999.3	-	30	3750	c.3684G>A	c.(3682-3684)ccG>ccA	p.P1228P	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1228	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.P1228P(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGGCTGGGGCGGCTTTGGGA	0.721													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11315	0.0		0.0	False		,,,				2504	0.0					uc002ycq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3682-3684)CCG>CCA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C		1,4171		0,1,2085	16.0	20.0	19.0		3684	-3.4	0.8	20		19	1,8185		0,1,4092	no	coding-synonymous	LAMA5	NM_005560.3		0,2,6177	TT,TC,CC		0.0122,0.024,0.0162		1228/3696	60905967	2,12356	2086	4093	6179	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60905967C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3684G>A	20.37:g.60905967C>T							p.P1228P	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		30	3751	-	Breast(26;1.57e-08)		1228			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.3684G>A	CCDS33502.1																																																																																				PASS	0.721	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	4	4	4	---	---	---	---
BTG3	10950	broad.mit.edu	37	21	18981390	18981390	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr21:18981390C>G	ENST00000348354.6	-	2	329	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	BTG3_ENST00000464058.1_5'UTR|BTG3_ENST00000339775.6_Missense_Mutation_p.E25Q	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	25					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)		p.E25Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TCAACTGCCTCTTTTTTCAAC	0.358																																						uc002ykk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)GAG>CAG		B-cell translocation gene 3 isoform b							100.0	99.0	99.0					21																	18981390		2203	4300	6503	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18981390C>G	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.73G>C	21.37:g.18981390C>G	ENSP00000284879:p.Glu25Gln					BTG3_uc002ykl.2_Missense_Mutation_p.E25Q	p.E25Q	NM_006806	NP_006797	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	2	333	-			25					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.73G>C	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	C	7.652	0.683087	0.14907	.	.	ENSG00000154640	ENST00000339775;ENST00000348354;ENST00000457956	.	.	.	4.62	4.62	0.57501	Anti-proliferative protein (3);	0.177740	0.47093	D	0.000241	T	0.27731	0.0682	N	0.13327	0.33	0.33491	D	0.588664	P;B	0.39480	0.675;0.288	B;B	0.35688	0.208;0.069	T	0.21552	-1.0242	9	0.08599	T	0.76	-19.8253	15.7685	0.78146	0.0:1.0:0.0:0.0	.	25;25	Q14201-2;Q14201	.;BTG3_HUMAN	Q	25	.	ENSP00000344609:E25Q	E	-	1	0	BTG3	17903261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.813000	0.38962	2.846000	0.97976	0.650000	0.86243	GAG		PASS	0.358	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		33	176	33	176	---	---	---	---
N6AMT1	29104	broad.mit.edu	37	21	30254502	30254502	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr21:30254502G>C	ENST00000303775.5	-	3	317	c.292C>G	c.(292-294)Caa>Gaa	p.Q98E	N6AMT1_ENST00000351429.3_Missense_Mutation_p.Q98E	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	98					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)	p.Q98E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						ATAACTGGTTGAATGTGAACT	0.353																																						uc002ymo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)CAA>GAA		N-6 adenine-specific DNA methyltransferase 1							98.0	93.0	95.0					21																	30254502		2203	4300	6503	SO:0001583	missense	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30254502G>C	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.292C>G	21.37:g.30254502G>C	ENSP00000303584:p.Gln98Glu					N6AMT1_uc002ymp.1_Missense_Mutation_p.Q98E|N6AMT1_uc002ymq.1_RNA	p.Q98E	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN			3	318	-			98					Q96F73	Missense_Mutation	SNP	ENST00000303775.5	37	c.292C>G	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	G	9.599	1.128210	0.21041	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.15139	2.72;2.45	5.18	5.18	0.71444	Methyltransferase small (1);	0.116121	0.64402	D	0.000012	T	0.08179	0.0204	N	0.11106	0.095	0.43667	D	0.996096	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.10268	-1.0637	10	0.02654	T	1	-4.1986	13.1894	0.59702	0.0:0.1602:0.8398:0.0	.	98;98	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	E	98	ENSP00000303584:Q98E;ENSP00000286764:Q98E	ENSP00000303584:Q98E	Q	-	1	0	N6AMT1	29176373	1.000000	0.71417	0.205000	0.23548	0.786000	0.44442	5.722000	0.68485	2.699000	0.92147	0.585000	0.79938	CAA		PASS	0.353	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		29	97	29	97	---	---	---	---
KRTAP21-1	337977	broad.mit.edu	37	21	32127524	32127524	+	Missense_Mutation	SNP	T	T	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr21:32127524T>C	ENST00000335093.3	-	1	222	c.173A>G	c.(172-174)tAt>tGt	p.Y58C		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	58						intermediate filament (GO:0005882)		p.Y58C(2)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						GCCAGagccatatccacagcc	0.507																																						uc011adi.1																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	breast(1)	1						c.(172-174)TAT>TGT		keratin associated protein 21-1							133.0	122.0	125.0					21																	32127524		2202	4300	6502	SO:0001583	missense	337977					intermediate filament		g.chr21:32127524T>C	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"""Keratin associated proteins"""	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.173A>G	21.37:g.32127524T>C	ENSP00000335566:p.Tyr58Cys						p.Y58C	NM_181619	NP_853650	Q3LI58	KR211_HUMAN			1	173	-			58						Missense_Mutation	SNP	ENST00000335093.3	37	c.173A>G	CCDS13606.1	.	.	.	.	.	.	.	.	.	.	T	0.093	-1.164803	0.01673	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.16	-1.52	0.08637	.	.	.	.	.	T	0.46073	0.1374	.	.	.	0.09310	N	1	D	0.59357	0.985	P	0.55999	0.789	T	0.37596	-0.9699	7	0.46703	T	0.11	.	6.5153	0.22244	0.1608:0.0:0.4958:0.3435	.	58	Q3LI58	KR211_HUMAN	C	58	.	ENSP00000335566:Y58C	Y	-	2	0	KRTAP21-1	31049395	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	-0.444000	0.06854	-0.238000	0.09724	-0.350000	0.07774	TAT		PASS	0.507	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2			4	209	4	209	---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35467886	35467886	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr21:35467886C>G	ENST00000381151.3	+	2	901	c.389C>G	c.(388-390)tCt>tGt	p.S130C	AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.S130C|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	130					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)	p.S130C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GCAGCCTTGTCTCTGATTCTC	0.443																																						uc002yto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(388-390)TCT>TGT		solute carrier family 5 (inositol transporters),							196.0	199.0	198.0					21																	35467886		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35467886C>G		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.389C>G	21.37:g.35467886C>G	ENSP00000370543:p.Ser130Cys					MRPS6_uc002ytp.2_Intron	p.S130C	NM_006933	NP_008864	P53794	SC5A3_HUMAN			2	901	+			130			Helical; (Potential).		O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.389C>G	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686185	0.68157	.	.	ENSG00000198743	ENST00000381151	D	0.89681	-2.55	5.99	5.99	0.97316	.	0.053896	0.85682	D	0.000000	D	0.95156	0.8430	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94970	0.8116	10	0.87932	D	0	.	20.0675	0.97707	0.0:1.0:0.0:0.0	.	130	P53794	SC5A3_HUMAN	C	130	ENSP00000370543:S130C	ENSP00000370543:S130C	S	+	2	0	SLC5A3	34389756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.848000	0.98002	0.609000	0.83330	TCT		PASS	0.443	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			70	343	70	343	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37581181	37581181	+	Silent	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr21:37581181G>T	ENST00000399151.3	+	5	745	c.660G>T	c.(658-660)ctG>ctT	p.L220L	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	220					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.L220L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTACATGCTGGGGACCAATC	0.637																																						uc002yvg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(658-660)CTG>CTT		pad-1-like							46.0	37.0	40.0					21																	37581181		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37581181G>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.660G>T	21.37:g.37581181G>T						DOPEY2_uc011aeb.1_Silent_p.L220L	p.L220L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			5	739	+			220					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.660G>T	CCDS13643.1																																																																																				PASS	0.637	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		9	73	9	73	---	---	---	---
IGLV1-44	28823	broad.mit.edu	37	22	22735507	22735507	+	RNA	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr22:22735507C>G	ENST00000390297.2	+	0	258									immunoglobulin lambda variable 1-44																		GCTCCAACATCGGAAGTAATA	0.582																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							100.0	103.0	102.0					22																	22735507		1872	4109	5981			96610							g.chr22:22735507C>G	Z73654		22q11.2	2012-02-08			ENSG00000211651	ENSG00000211651		"""Immunoglobulins / IGL locus"""	5879	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151050		22.37:g.22735507C>G														46		+									RNA	SNP	ENST00000390297.2	37	c.5303C>G																																																																																					PASS	0.582	IGLV1-44-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321110.1	NG_000002		44	225	44	225	---	---	---	---
IGLV4-3	28786	broad.mit.edu	37	22	23214155	23214155	+	RNA	SNP	C	C	T	rs371756657		TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr22:23214155C>T	ENST00000390318.2	+	0	344									immunoglobulin lambda variable 4-3																		TCCAGTCTGACGATGAGGCTG	0.582																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.		C		0,4154		0,0,2077	57.0	59.0	58.0			-1.5	0.5	22		58	2,8378		0,2,4188	no	intergenic				0,2,6265	TT,TC,CC		0.0239,0.0,0.016			23214155	2,12532	2077	4190	6267			96610							g.chr22:23214155C>T	X57828		22q11.2	2012-02-08			ENSG00000211672	ENSG00000211672		"""Immunoglobulins / IGL locus"""	5919	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151244		22.37:g.23214155C>T														326		+									RNA	SNP	ENST00000390318.2	37	c.14232C>T																																																																																					PASS	0.582	IGLV4-3-001	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321849.1	NG_000002		26	96	26	96	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26694977	26694977	+	Missense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr22:26694977G>A	ENST00000248933.6	+	5	1285	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	SEZ6L_ENST00000403121.1_Missense_Mutation_p.R170H|SEZ6L_ENST00000529632.2_Missense_Mutation_p.R397H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R397H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R397H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R170H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R397H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	397	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.R397H(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AACTTTCCCCGCCGGCCTGAC	0.587																																						uc003acb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1189-1191)CGC>CAC		seizure related 6 homolog (mouse)-like							60.0	50.0	54.0					22																	26694977		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26694977G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1190G>A	22.37:g.26694977G>A	ENSP00000248933:p.Arg397His					SEZ6L_uc003acc.2_Missense_Mutation_p.R397H|SEZ6L_uc011akc.1_Missense_Mutation_p.R397H|SEZ6L_uc003acd.2_Missense_Mutation_p.R397H|SEZ6L_uc011akd.1_Missense_Mutation_p.R397H|SEZ6L_uc003ace.2_Missense_Mutation_p.R397H|SEZ6L_uc003acf.1_Missense_Mutation_p.R170H|SEZ6L_uc010gvc.1_Missense_Mutation_p.R170H	p.R397H	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			5	1346	+			397			Sushi 1.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1190G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312153	0.40895	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	4.55	2.45	0.29901	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.51477	D	0.000100	T	0.59211	0.2177	M	0.69358	2.11	0.80722	D	1	B;B;B;B;B;B;B	0.34147	0.119;0.121;0.046;0.438;0.171;0.228;0.072	B;B;B;B;B;B;B	0.27608	0.054;0.06;0.029;0.07;0.051;0.081;0.06	T	0.58691	-0.7592	10	0.51188	T	0.08	.	10.3829	0.44123	0.1461:0.0:0.8539:0.0	.	397;397;170;397;397;397;397	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	H	397;397;397;397;397;170;170	ENSP00000384772:R397H;ENSP00000437037:R397H;ENSP00000354185:R397H;ENSP00000248933:R397H;ENSP00000342661:R397H;ENSP00000384838:R170H;ENSP00000384733:R170H	ENSP00000248933:R397H	R	+	2	0	SEZ6L	25024977	1.000000	0.71417	0.863000	0.33907	0.991000	0.79684	4.792000	0.62467	0.532000	0.28657	0.561000	0.74099	CGC		PASS	0.587	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			23	70	23	70	---	---	---	---
MFNG	4242	broad.mit.edu	37	22	37882168	37882168	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr22:37882168G>C	ENST00000356998.3	-	1	271	c.48C>G	c.(46-48)ctC>ctG	p.L16L	MFNG_ENST00000416983.3_Silent_p.L16L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	16					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.L16L(1)		large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CCATGCACAGGAGGGTGAGGA	0.687																																						uc003ass.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(46-48)CTC>CTG		O-fucosylpeptide							19.0	22.0	21.0					22																	37882168		2202	4300	6502	SO:0001819	synonymous_variant	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37882168G>C	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.48C>G	22.37:g.37882168G>C						MFNG_uc011ani.1_5'UTR|MFNG_uc011anj.1_Silent_p.L16L|CARD10_uc003ast.1_Intron	p.L16L	NM_002405	NP_002396	O00587	MFNG_HUMAN			1	218	-	Melanoma(58;0.0574)		16			Helical; Signal-anchor for type II membrane protein; (Potential).		B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	c.48C>G	CCDS13947.1																																																																																				PASS	0.687	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		5	64	5	64	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41521907	41521907	+	Missense_Mutation	SNP	T	T	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr22:41521907T>G	ENST00000263253.7	+	3	1988	c.769T>G	c.(769-771)Tat>Gat	p.Y257D		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	257					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y257D(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGTTCACCATATACTCAGAA	0.358			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(769-771)TAT>GAT		E1A binding protein p300							109.0	106.0	107.0					22																	41521907		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41521907T>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.769T>G	22.37:g.41521907T>G	ENSP00000263253:p.Tyr257Asp						p.Y257D	NM_001429	NP_001420	Q09472	EP300_HUMAN			3	1164	+			257					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.769T>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.080250	0.76528	.	.	ENSG00000100393	ENST00000263253	D	0.84223	-1.82	5.73	5.73	0.89815	.	0.000000	0.42682	D	0.000677	D	0.91616	0.7351	M	0.75777	2.31	0.53688	D	0.999971	D	0.76494	0.999	D	0.79784	0.993	D	0.90796	0.4690	10	0.35671	T	0.21	-7.1852	16.0207	0.80486	0.0:0.0:0.0:1.0	.	257	Q09472	EP300_HUMAN	D	257	ENSP00000263253:Y257D	ENSP00000263253:Y257D	Y	+	1	0	EP300	39851853	1.000000	0.71417	0.620000	0.29132	0.649000	0.38597	7.503000	0.81632	2.179000	0.69175	0.482000	0.46254	TAT		PASS	0.358	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		29	153	29	153	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41565575	41565575	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr22:41565575A>G	ENST00000263253.7	+	26	5460	c.4241A>G	c.(4240-4242)tAt>tGt	p.Y1414C	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1414	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1414C(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACTGCAGTCTATCATGAAATC	0.333			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4240-4242)TAT>TGT		E1A binding protein p300							88.0	85.0	86.0					22																	41565575		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565575A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4241A>G	22.37:g.41565575A>G	ENSP00000263253:p.Tyr1414Cys						p.Y1414C	NM_001429	NP_001420	Q09472	EP300_HUMAN			26	4636	+			1414					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4241A>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842646	0.71488	.	.	ENSG00000100393	ENST00000263253	D	0.94232	-3.38	5.55	5.55	0.83447	.	0.000000	0.41396	D	0.000891	D	0.97820	0.9284	H	0.96175	3.78	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.99187	1.0869	10	0.87932	D	0	-7.4381	15.6988	0.77521	1.0:0.0:0.0:0.0	.	1414	Q09472	EP300_HUMAN	C	1414	ENSP00000263253:Y1414C	ENSP00000263253:Y1414C	Y	+	2	0	EP300	39895521	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.237000	0.95368	2.115000	0.64714	0.455000	0.32223	TAT		PASS	0.333	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		12	55	12	55	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51137207	51137207	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr22:51137207A>G	ENST00000414786.2	+	12	1773	c.1546A>G	c.(1546-1548)Atg>Gtg	p.M516V	SHANK3_ENST00000262795.3_Missense_Mutation_p.M546V|SHANK3_ENST00000445220.2_Missense_Mutation_p.M531V			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	530	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.M546V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGAAGTGCAGATGAGGCAGCA	0.637																																						uc003bne.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1636-1638)ATG>GTG		SH3 and multiple ankyrin repeat domains 3							33.0	40.0	38.0					22																	51137207		2089	4224	6313	SO:0001583	missense	85358							g.chr22:51137207A>G	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1546A>G	22.37:g.51137207A>G	ENSP00000464552:p.Met516Val					SHANK3_uc003bnf.1_Missense_Mutation_p.M1V	p.M546V	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	13	1636	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	546					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.1636A>G		.	.	.	.	.	.	.	.	.	.	A	9.206	1.029674	0.19512	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.12672	2.66;2.66	4.03	4.03	0.46877	Src homology-3 domain (2);	.	.	.	.	T	0.14141	0.0342	L	0.61218	1.895	0.27000	N	0.964939	B;B	0.31581	0.179;0.329	B;B	0.27170	0.053;0.077	T	0.12915	-1.0529	9	0.17369	T	0.5	.	10.9512	0.47330	1.0:0.0:0.0:0.0	.	531;546	Q9BYB0;F2Z3L0	SHAN3_HUMAN;.	V	546;531	ENSP00000442518:M546V;ENSP00000446078:M531V	ENSP00000442518:M546V	M	+	1	0	SHANK3	49484073	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	4.977000	0.63792	1.682000	0.51000	0.459000	0.35465	ATG		PASS	0.637	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		7	85	7	85	---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337077	13337077	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:13337077C>G	ENST00000380622.2	-	1	1441	c.977G>C	c.(976-978)aGt>aCt	p.S326T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	326					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.S326T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GATGTCATCACTGAGATCACT	0.433																																						uc010ned.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(976-978)AGT>ACT		ataxin 3-like							209.0	170.0	182.0					X																	13337077		1568	3582	5150	SO:0001583	missense	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337077C>G		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.977G>C	X.37:g.13337077C>G	ENSP00000369996:p.Ser326Thr						p.S326T	NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN			1	1442	-			326					B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	c.977G>C	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	C	4.051	0.007093	0.07866	.	.	ENSG00000123594	ENST00000380622	T	0.17691	2.26	0.793	-0.16	0.13375	.	0.347798	0.24191	N	0.040705	T	0.07413	0.0187	N	0.14661	0.345	0.09310	N	1	B	0.29037	0.231	B	0.21917	0.037	T	0.22103	-1.0226	9	0.49607	T	0.09	.	.	.	.	.	326	Q9H3M9	ATX3L_HUMAN	T	326	ENSP00000369996:S326T	ENSP00000369996:S326T	S	-	2	0	ATXN3L	13246998	0.017000	0.18338	0.002000	0.10522	0.003000	0.03518	1.805000	0.38883	-0.147000	0.11254	-0.458000	0.05436	AGT		PASS	0.433	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		33	118	33	118	---	---	---	---
PIR	8544	broad.mit.edu	37	X	15509309	15509309	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:15509309G>C	ENST00000380421.3	-	2	532	c.72C>G	c.(70-72)gtC>gtG	p.V24V	BMX_ENST00000357607.2_Intron|PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Silent_p.V24V	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	24				V -> D (in Ref. 2; CAG46621). {ECO:0000305}.	monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)	p.V24V(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TGCTTCTCCGGACCCTCGCTC	0.522																																					Ovarian(180;1587 2015 10555 34192 51653)	uc004cwu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(70-72)GTC>GTG		pirin							162.0	146.0	152.0					X																	15509309		2203	4300	6503	SO:0001819	synonymous_variant	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15509309G>C	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.72C>G	X.37:g.15509309G>C						PIR_uc004cwv.2_Silent_p.V24V|BMX_uc004cww.2_Intron	p.V24V	NM_003662	NP_003653	O00625	PIR_HUMAN			2	310	-	Hepatocellular(33;0.183)		24	V -> D (in Ref. 2; CAG46621).				Q5U0G0|Q6FHD2	Silent	SNP	ENST00000380421.3	37	c.72C>G	CCDS14167.1																																																																																				PASS	0.522	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662		62	142	62	142	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22095795	22095795	+	Missense_Mutation	SNP	A	A	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:22095795A>G	ENST00000379374.4	+	5	1203	c.638A>G	c.(637-639)aAa>aGa	p.K213R	PHEX_ENST00000537599.1_Missense_Mutation_p.K213R|PHEX_ENST00000535894.1_Missense_Mutation_p.K116R	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	213					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K213R(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CCTGATGACAAAGCATCCAAT	0.448																																						uc004dah.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(637-639)AAA>AGA		phosphate-regulating neutral endopeptidase							167.0	148.0	155.0					X																	22095795		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22095795A>G	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.638A>G	X.37:g.22095795A>G	ENSP00000368682:p.Lys213Arg					PHEX_uc011mjr.1_Missense_Mutation_p.K213R|PHEX_uc011mjs.1_Missense_Mutation_p.K116R	p.K213R	NM_000444	NP_000435	P78562	PHEX_HUMAN			5	841	+			213			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.638A>G	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359408	0.41801	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.76316	-1.01;-1.01;-1.01	5.52	4.15	0.48705	Peptidase M13 (1);	0.041482	0.85682	D	0.000000	T	0.67477	0.2897	L	0.35644	1.08	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.005;0.009	T	0.64537	-0.6384	10	0.40728	T	0.16	.	11.0357	0.47799	0.9127:0.0:0.0873:0.0	.	213;213	F5GXU4;P78562	.;PHEX_HUMAN	R	213;213;116	ENSP00000368682:K213R;ENSP00000440362:K213R;ENSP00000439418:K116R	ENSP00000368682:K213R	K	+	2	0	PHEX	22005716	1.000000	0.71417	0.974000	0.42286	0.967000	0.64934	6.656000	0.74396	1.845000	0.53610	0.486000	0.48141	AAA		PASS	0.448	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		58	114	58	114	---	---	---	---
PTCHD1	139411	broad.mit.edu	37	X	23411489	23411489	+	Silent	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:23411489G>A	ENST00000379361.4	+	3	2714	c.1854G>A	c.(1852-1854)ctG>ctA	p.L618L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	618					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.L618L(1)|p.L513L(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATTCCTTTCTGAAAGCCCCTC	0.388																																						uc004dal.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|kidney(1)|skin(1)	6						c.(1852-1854)CTG>CTA		patched domain containing 1							70.0	72.0	71.0					X																	23411489		2201	4296	6497	SO:0001819	synonymous_variant	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411489G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1854G>A	X.37:g.23411489G>A							p.L618L	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			3	1862	+			618					B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	c.1854G>A	CCDS35215.2																																																																																				PASS	0.388	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		50	76	50	76	---	---	---	---
ZNF81	347344	broad.mit.edu	37	X	47774728	47774728	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:47774728C>T	ENST00000376954.1	+	6	1051	c.683C>T	c.(682-684)aCc>aTc	p.T228I	ZNF81_ENST00000338637.7_Missense_Mutation_p.T228I			P51508	ZNF81_HUMAN	zinc finger protein 81	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T228I(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CAAGTTTTTACCCAGAACTCT	0.368																																						uc010nhy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(682-684)ACC>ATC		zinc finger protein 81							62.0	60.0	61.0					X																	47774728		1883	4098	5981	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774728C>T	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.683C>T	X.37:g.47774728C>T	ENSP00000366153:p.Thr228Ile						p.T228I	NM_007137	NP_009068	P51508	ZNF81_HUMAN			6	1051	+		all_lung(315;0.0973)	228					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.683C>T	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.191109	0.00302	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.15372	2.43;2.43	4.04	2.19	0.27852	.	0.714954	0.12150	N	0.494971	T	0.10465	0.0256	N	0.24115	0.695	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.37361	-0.9709	10	0.21014	T	0.42	.	7.7594	0.28944	0.1833:0.6424:0.1744:0.0	.	228	P51508	ZNF81_HUMAN	I	228	ENSP00000366153:T228I;ENSP00000341151:T228I	ENSP00000341151:T228I	T	+	2	0	ZNF81	47659672	0.000000	0.05858	0.016000	0.15963	0.056000	0.15407	-0.513000	0.06305	0.455000	0.26910	0.600000	0.82982	ACC		PASS	0.368	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		20	43	20	43	---	---	---	---
CLCN5	1184	broad.mit.edu	37	X	49854835	49854835	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:49854835G>C	ENST00000307367.2	+	10	1888	c.1597G>C	c.(1597-1599)Gaa>Caa	p.E533Q	CLCN5_ENST00000376108.3_Missense_Mutation_p.E533Q|CLCN5_ENST00000376091.3_Missense_Mutation_p.E603Q|CLCN5_ENST00000376088.3_Missense_Mutation_p.E603Q			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	533					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E533Q(1)|p.E603Q(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGGTGGCTTAGAATACATCGT	0.502																																						uc004dos.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1597-1599)GAA>CAA		chloride channel 5 isoform b							166.0	152.0	157.0					X																	49854835		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49854835G>C	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1597G>C	X.37:g.49854835G>C	ENSP00000304257:p.Glu533Gln					CLCN5_uc004dor.1_Missense_Mutation_p.E603Q|CLCN5_uc004doq.1_Missense_Mutation_p.E603Q|CLCN5_uc004dot.1_Missense_Mutation_p.E533Q	p.E533Q	NM_000084	NP_000075	P51795	CLCN5_HUMAN			10	1845	+	Ovarian(276;0.236)		533					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1597G>C	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204714	0.58234	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.79	5.79	0.91817	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.91801	0.7406	N	0.05050	-0.12	0.80722	D	1	B;D	0.67145	0.059;0.996	B;D	0.78314	0.065;0.991	D	0.90535	0.4498	10	0.18276	T	0.48	-17.3401	17.6718	0.88220	0.0:0.0:1.0:0.0	.	533;603	P51795;P51795-2	CLCN5_HUMAN;.	Q	603;435;603;533;533	ENSP00000365256:E603Q;ENSP00000365259:E603Q;ENSP00000365276:E533Q;ENSP00000304257:E533Q	ENSP00000304257:E533Q	E	+	1	0	CLCN5	49741575	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.705000	0.98719	2.445000	0.82738	0.600000	0.82982	GAA		PASS	0.502	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			5	222	5	222	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54784061	54784061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:54784061G>A	ENST00000218436.6	-	8	2475	c.2446C>T	c.(2446-2448)Cag>Tag	p.Q816*		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	816	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q816*(1)									TTGGGAACCTGAAGTGTAGAG	0.562																																						uc004dtj.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2446-2448)CAG>TAG		inter-alpha (globulin) inhibitor H5-like							127.0	115.0	119.0					X																	54784061		2203	4300	6503	SO:0001587	stop_gained	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784061G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2446C>T	X.37:g.54784061G>A	ENSP00000218436:p.Gln816*						p.Q816*	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2476	-			816			Pro-rich.		A6NN03	Nonsense_Mutation	SNP	ENST00000218436.6	37	c.2446C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694421	0.68386	.	.	ENSG00000102313	ENST00000218436	.	.	.	3.76	1.79	0.24919	.	1.509610	0.06302	U	0.701049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	8.9976	0.36061	0.0:0.0:0.6056:0.3944	.	.	.	.	X	816	.	ENSP00000218436:Q816X	Q	-	1	0	ITIH5L	54800786	1.000000	0.71417	0.374000	0.26016	0.031000	0.12232	1.452000	0.35156	0.437000	0.26423	-0.345000	0.07892	CAG		PASS	0.562	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		49	73	49	73	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67937404	67937404	+	Silent	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:67937404G>C	ENST00000252336.6	+	5	780	c.408G>C	c.(406-408)ctG>ctC	p.L136L	STARD8_ENST00000374597.3_Silent_p.L136L|STARD8_ENST00000374599.3_Silent_p.L216L	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	136					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.L136L(2)|p.L216L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTGAATCTCTGAGGCGGAAGG	0.592																																						uc004dxa.2																			3	Substitution - coding silent(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(406-408)CTG>CTC		StAR-related lipid transfer (START) domain							62.0	51.0	54.0					X																	67937404		2203	4300	6503	SO:0001819	synonymous_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937404G>C	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.408G>C	X.37:g.67937404G>C						STARD8_uc004dxb.2_Silent_p.L216L|STARD8_uc004dxc.3_Silent_p.L136L	p.L136L	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	780	+			136					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	c.408G>C	CCDS14390.1																																																																																				PASS	0.592	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		28	41	28	41	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67937591	67937591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:67937591G>T	ENST00000252336.6	+	5	967	c.595G>T	c.(595-597)Gag>Tag	p.E199*	STARD8_ENST00000374597.3_Nonsense_Mutation_p.E199*|STARD8_ENST00000374599.3_Nonsense_Mutation_p.E279*	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	199					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.E199*(2)|p.E279*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAAGGCCTGGGAGGCCTGGCC	0.632																																						uc004dxa.2																			3	Substitution - Nonsense(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(595-597)GAG>TAG		StAR-related lipid transfer (START) domain							47.0	39.0	41.0					X																	67937591		2203	4300	6503	SO:0001587	stop_gained	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937591G>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.595G>T	X.37:g.67937591G>T	ENSP00000252336:p.Glu199*					STARD8_uc004dxb.2_Nonsense_Mutation_p.E279*|STARD8_uc004dxc.3_Nonsense_Mutation_p.E199*	p.E199*	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	967	+			199					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Nonsense_Mutation	SNP	ENST00000252336.6	37	c.595G>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	g	27.3	4.819430	0.90873	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	.	.	.	4.2	3.33	0.38152	.	0.421727	0.21052	N	0.080978	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	8.9683	0.35890	0.1131:0.0:0.8869:0.0	.	.	.	.	X	199;279;199	.	ENSP00000252336:E199X	E	+	1	0	STARD8	67854316	0.745000	0.28261	0.451000	0.26982	0.156000	0.22039	1.460000	0.35244	0.791000	0.33826	0.597000	0.82753	GAG		PASS	0.632	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		16	40	16	40	---	---	---	---
OGT	8473	broad.mit.edu	37	X	70777517	70777517	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:70777517G>C	ENST00000373719.3	+	12	1814	c.1597G>C	c.(1597-1599)Gat>Cat	p.D533H	OGT_ENST00000373701.3_Missense_Mutation_p.D523H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	533					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.D533H(1)|p.D523H(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CCTGTGCTTAGATAAGGTGTG	0.363																																						uc004eaa.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1597-1599)GAT>CAT		O-linked GlcNAc transferase isoform 1							82.0	55.0	64.0					X																	70777517		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70777517G>C	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1597G>C	X.37:g.70777517G>C	ENSP00000362824:p.Asp533His					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.D523H|OGT_uc004eac.2_Missense_Mutation_p.D394H|OGT_uc004ead.2_Missense_Mutation_p.D152H	p.D533H	NM_181672	NP_858058	O15294	OGT1_HUMAN			12	1814	+	Renal(35;0.156)		533					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.1597G>C	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827802	0.71143	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.18174	2.23;2.23	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.39898	1.24	0.80722	D	1	P;D;D	0.60575	0.933;0.96;0.988	P;P;P	0.53593	0.488;0.686;0.73	T	0.00279	-1.1853	10	0.42905	T	0.14	-8.426	19.2293	0.93831	0.0:0.0:1.0:0.0	.	407;523;533	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	H	533;523	ENSP00000362824:D533H;ENSP00000362805:D523H	ENSP00000362805:D523H	D	+	1	0	OGT	70694242	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	9.794000	0.99096	2.492000	0.84095	0.600000	0.82982	GAT		PASS	0.363	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		15	31	15	31	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73069127	73069127	+	lincRNA	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:73069127G>C	ENST00000429829.1	-	0	3461					NR_001564.2				X inactive specific transcript (non-protein coding)																		AATTGGGACTGAGCATTTTAA	0.453																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							62.0	59.0	60.0					X																	73069127		876	1991	2867			7503							g.chrX:73069127G>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73069127G>C								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.3462C>G																																																																																					PASS	0.453	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		8	30	8	30	---	---	---	---
CPXCR1	53336	broad.mit.edu	37	X	88008729	88008729	+	Missense_Mutation	SNP	C	C	A			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:88008729C>A	ENST00000276127.4	+	3	573	c.314C>A	c.(313-315)cCc>cAc	p.P105H	CPXCR1_ENST00000373111.1_Missense_Mutation_p.P105H	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	105							metal ion binding (GO:0046872)	p.P105H(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCTCACAAGCCCTTAAATGAT	0.398																																						uc004efd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(313-315)CCC>CAC		CPX chromosome region, candidate 1							38.0	34.0	35.0					X																	88008729		2202	4300	6502	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008729C>A	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.314C>A	X.37:g.88008729C>A	ENSP00000276127:p.Pro105His					CPXCR1_uc004efc.3_Missense_Mutation_p.P105H	p.P105H	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	573	+			105					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.314C>A	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	9.043	0.990196	0.18966	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.43688	0.94;0.94	2.98	1.18	0.20946	.	1.416530	0.05097	N	0.486362	T	0.39064	0.1064	N	0.24115	0.695	0.09310	N	1	D	0.61697	0.99	P	0.53450	0.726	T	0.23297	-1.0192	9	.	.	.	2.2313	4.8266	0.13419	0.0:0.6966:0.0:0.3034	.	105	Q8N123	CPXCR_HUMAN	H	105	ENSP00000276127:P105H;ENSP00000362203:P105H	.	P	+	2	0	CPXCR1	87895385	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.152000	0.10159	0.187000	0.20147	0.594000	0.82650	CCC		PASS	0.398	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		11	24	11	24	---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100382613	100382613	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:100382613C>G	ENST00000372927.1	+	10	1310	c.1033C>G	c.(1033-1035)Caa>Gaa	p.Q345E	CENPI_ENST00000218507.5_Missense_Mutation_p.Q345E|CENPI_ENST00000423383.1_Missense_Mutation_p.Q345E|CENPI_ENST00000372926.1_Missense_Mutation_p.Q345E	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	345					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.Q345E(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAACAACTTCAAAGCTTCCC	0.378																																						uc004egx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1033-1035)CAA>GAA		centromere protein I							119.0	113.0	115.0					X																	100382613		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382613C>G	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1033C>G	X.37:g.100382613C>G	ENSP00000362018:p.Gln345Glu					CENPI_uc011mrg.1_Missense_Mutation_p.Q345E|CENPI_uc004egy.2_Missense_Mutation_p.Q345E	p.Q345E	NM_006733	NP_006724	Q92674	CENPI_HUMAN			10	1303	+			345					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1033C>G	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	0.940	-0.709979	0.03230	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.4	3.5	0.40072	.	0.674850	0.16573	N	0.208535	T	0.35508	0.0934	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.16719	-1.0393	9	0.11485	T	0.65	-0.1262	15.3751	0.74598	0.2972:0.7028:0.0:0.0	.	345;345	B4DZL4;Q92674	.;CENPI_HUMAN	E	345	.	ENSP00000218507:Q345E	Q	+	1	0	CENPI	100269269	0.079000	0.21365	0.030000	0.17652	0.026000	0.11368	1.934000	0.40163	0.131000	0.18576	-0.936000	0.02699	CAA		PASS	0.378	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		41	84	41	84	---	---	---	---
NXF5	55998	broad.mit.edu	37	X	101096040	101096040	+	Missense_Mutation	SNP	C	C	T			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:101096040C>T	ENST00000361708.2	-	8	787	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	NXF5_ENST00000473265.2_Missense_Mutation_p.R143Q|NXF5_ENST00000537026.1_Missense_Mutation_p.R143Q			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	143					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R143Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GCAGTTTCTTCGATTCAGGAT	0.522																																						uc011mrk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(427-429)CGA>CAA		nuclear RNA export factor 5							97.0	91.0	93.0					X																	101096040		2201	4297	6498	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101096040C>T	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.428G>A	X.37:g.101096040C>T	ENSP00000355286:p.Arg143Gln					NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.R143Q	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			8	788	-			143					A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.428G>A		.	.	.	.	.	.	.	.	.	.	.	11.34	1.611127	0.28712	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.56275	0.47;0.47;0.47	2.05	0.153	0.14897	.	0.235527	0.32852	N	0.005571	T	0.43722	0.1260	M	0.72894	2.215	0.37812	D	0.928067	B	0.23377	0.084	B	0.15484	0.013	T	0.31024	-0.9958	10	0.52906	T	0.07	.	4.4198	0.11474	0.0:0.6281:0.0:0.3719	.	143	A2RRM0	.	Q	143	ENSP00000442401:R143Q;ENSP00000426978:R143Q;ENSP00000355286:R143Q	ENSP00000263032:R143Q	R	-	2	0	NXF5	100982696	0.445000	0.25657	0.978000	0.43139	0.177000	0.22998	0.534000	0.23098	-0.021000	0.14009	-1.274000	0.01402	CGA		PASS	0.522	NXF5-201	KNOWN	basic	protein_coding	protein_coding				28	79	28	79	---	---	---	---
FAM127A	8933	broad.mit.edu	37	X	134166519	134166519	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:134166519G>C	ENST00000257013.7	+	1	187	c.106G>C	c.(106-108)Gat>Cat	p.D36H	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)		p.D36H(1)		endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GTTTGACGGCGATACCGACCG	0.622																																						uc004eyd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)GAT>CAT		family with sequence similarity 127, member A							107.0	109.0	108.0					X																	134166519		2163	4236	6399	SO:0001583	missense	8933							g.chrX:134166519G>C	Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"""CAAX box 1"""	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.106G>C	X.37:g.134166519G>C	ENSP00000257013:p.Asp36His					uc004eye.1_RNA	p.D36H	NM_001078171	NP_001071639	A6ZKI3	F127A_HUMAN			1	187	+	Acute lymphoblastic leukemia(192;0.000127)		36					Q6IBF1	Missense_Mutation	SNP	ENST00000257013.7	37	c.106G>C	CCDS43997.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719445	0.48728	.	.	ENSG00000134590	ENST00000257013	T	0.31510	1.49	3.95	3.07	0.35406	.	.	.	.	.	T	0.45816	0.1361	M	0.69358	2.11	0.23406	N	0.997742	D	0.56035	0.974	P	0.58820	0.846	T	0.23119	-1.0197	9	0.87932	D	0	.	7.8471	0.29431	0.0:0.0:0.7535:0.2465	.	36	A6ZKI3	F127A_HUMAN	H	36	ENSP00000257013:D36H	ENSP00000257013:D36H	D	+	1	0	FAM127A	133994185	0.997000	0.39634	0.703000	0.30354	0.139000	0.21198	0.697000	0.25556	0.991000	0.38814	0.538000	0.68166	GAT		PASS	0.622	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058391.2	NM_001078171		41	120	41	120	---	---	---	---
RBMX	27316	broad.mit.edu	37	X	135958712	135958712	+	Missense_Mutation	SNP	C	C	G			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:135958712C>G	ENST00000320676.7	-	5	645	c.491G>C	c.(490-492)aGa>aCa	p.R164T	RBMX_ENST00000565438.1_Missense_Mutation_p.R36T|RBMX_ENST00000562646.1_Missense_Mutation_p.R164T|RBMX_ENST00000570135.1_Missense_Mutation_p.R29T|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	164					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R164T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGGTGCAGATCTCTTAGGAGG	0.463																																						uc004fae.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(490-492)AGA>ACA		RNA binding motif protein, X-linked isoform 1							123.0	111.0	115.0					X																	135958712		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135958712C>G		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.491G>C	X.37:g.135958712C>G	ENSP00000359645:p.Arg164Thr					RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.R164T|RBMX_uc011mwg.1_Missense_Mutation_p.R125T|RBMX_uc004faf.1_Missense_Mutation_p.R25T|RBMX_uc010nsf.1_Missense_Mutation_p.R125T|RBMX_uc004fag.1_Missense_Mutation_p.R36T	p.R164T	NM_002139	NP_002130	P38159	HNRPG_HUMAN			5	701	-	Acute lymphoblastic leukemia(192;0.000127)		164					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.491G>C	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	28.7	4.946187	0.92593	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.78707	-1.2	5.52	5.52	0.82312	.	0.000000	0.85682	U	0.000000	D	0.86997	0.6068	M	0.69463	2.115	0.58432	D	0.999997	P;D	0.57899	0.956;0.981	P;D	0.67231	0.629;0.95	D	0.87771	0.2605	10	0.62326	D	0.03	.	18.5809	0.91171	0.0:1.0:0.0:0.0	.	164;151	P38159;Q8N8Y7	HNRPG_HUMAN;.	T	164;151	ENSP00000359645:R164T	ENSP00000359645:R164T	R	-	2	0	RBMX	135786378	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.919000	0.75793	2.331000	0.79229	0.592000	0.82586	AGA		PASS	0.463	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		46	86	46	86	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144904016	144904016	+	Missense_Mutation	SNP	G	G	C			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chrX:144904016G>C	ENST00000370490.1	+	1	4328	c.73G>C	c.(73-75)Gcc>Ccc	p.A25P	SLITRK2_ENST00000434188.2_Missense_Mutation_p.A25P|SLITRK2_ENST00000428560.2_Missense_Mutation_p.A25P|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A25P|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A25P			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	25					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.A25P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCGCAAAACTGCCAAAGACAT	0.478																																						uc004fcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(73-75)GCC>CCC		SLIT and NTRK-like family, member 2 precursor							78.0	68.0	71.0					X																	144904016		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904016G>C	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.73G>C	X.37:g.144904016G>C	ENSP00000359521:p.Ala25Pro					SLITRK2_uc010nsp.2_Missense_Mutation_p.A25P|SLITRK2_uc010nso.2_Missense_Mutation_p.A25P|SLITRK2_uc011mwq.1_Missense_Mutation_p.A25P|SLITRK2_uc011mwr.1_Missense_Mutation_p.A25P|SLITRK2_uc011mws.1_Missense_Mutation_p.A25P|SLITRK2_uc004fcg.2_Missense_Mutation_p.A25P|SLITRK2_uc011mwt.1_Missense_Mutation_p.A25P	p.A25P	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1063	+	Acute lymphoblastic leukemia(192;6.56e-05)		25			Extracellular (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.73G>C	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606722	0.46527	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.53423	0.66;0.62;0.62;0.62;0.62;0.62	4.73	4.73	0.59995	.	0.141721	0.46758	U	0.000262	T	0.36496	0.0969	N	0.22421	0.69	0.38769	D	0.954498	B	0.25743	0.133	B	0.29785	0.107	T	0.30179	-0.9987	10	0.34782	T	0.22	-8.8712	14.2212	0.65828	0.0:0.0:1.0:0.0	.	25	Q9H156	SLIK2_HUMAN	P	25	ENSP00000334374:A25P;ENSP00000411681:A25P;ENSP00000359521:A25P;ENSP00000397015:A25P;ENSP00000407347:A25P;ENSP00000412010:A25P	ENSP00000334374:A25P	A	+	1	0	SLITRK2	144711708	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.791000	0.47829	1.929000	0.55896	0.436000	0.28706	GCC		PASS	0.478	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		22	43	22	43	---	---	---	---
CDC14C	168448	broad.mit.edu	37	7	48964307	48964307	+	IGR	DEL	C	C	-			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr7:48964307delC								AC004899.1 (73086 upstream) : AC010971.1 (305425 downstream)																							GCCGCCGGGACCCCCAGGACG	0.607																																						uc010kyv.1																			0					0						c.(37-39)GACfs		SubName: Full=Putative uncharacterized protein MGC26484;																																				SO:0001628	intergenic_variant	168448							g.chr7:48964307delC																													7.37:g.48964307delC							p.D13fs	NR_003595						1	151	+									Frame_Shift_Del	DEL		37	c.39delC																																																																																				0		0.607									94	43	94	43	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					uc009ylv.2																			3	Deletion - In frame(3)		prostate(1)|breast(1)|central_nervous_system(1)	ovary(1)	1						c.(172-177)ACCACCdel		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_uc001ngj.2_5'UTR|FNBP4_uc001ngl.2_RNA	p.TT58del	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			1	325_330	-			58_59					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																					0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			5	3	5	3	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073	byFrequency	TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772														1448	0.289137	0.0772	0.3199	5008	,	,		6733	0.3968		0.4165	False		,,,				2504	0.3119					uc010xfl.1																			2	Insertion - In frame(2)		upper_aerodigestive_tract(2)		0						c.(22-27)insGGC		potassium voltage-gated channel, subfamily G,																																				SO:0001652	inframe_insertion	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623691_77623692insGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.34_36dupGGC	18.37:g.77623698_77623700dupGGC	ENSP00000315654:p.Gly13dup						p.13_14insG	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	24_25	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	13_14			Cytoplasmic (Potential).			In_Frame_Ins	INS	ENST00000316249.3	37	c.24_25insGGC	CCDS12019.1																																																																																					0.772	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		6	3	6	3	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51165815	51165815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-3783-01A-01D-1267-08	TCGA-37-3783-10A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	711e9b21-bd8c-4058-a0ce-5ff4dc23b527	6877de41-4eb8-4fce-8606-f8f1a0bbedb0	g.chr19:51165815delC	ENST00000293441.1	-	23	5911	c.5893delG	c.(5893-5895)gccfs	p.A1965fs	SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.A1973fs|SHANK1_ENST00000391813.1_Frame_Shift_Del_p.A1352fs|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.A1956fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1965					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCCCTGGGGCCGCAGCGGCT	0.692																																						uc002psx.1																			0				large_intestine(2)	2						c.(5893-5895)GCCfs		SH3 and multiple ankyrin repeat domains 1							15.0	17.0	16.0					19																	51165815		2168	4240	6408	SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165815delC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5893delG	19.37:g.51165815delC	ENSP00000293441:p.Ala1965fs					SHANK1_uc002psw.1_Frame_Shift_Del_p.A1349fs	p.A1965fs	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	5912	-		all_neural(266;0.057)	1965					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	ENST00000293441.1	37	c.5893delG	CCDS12799.1																																																																																					0.692	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		9	5	9	5	---	---	---	---
