#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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
CCDC27	148870	broad.mit.edu	37	1	3672130	3672130	+	Splice_Site	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:3672130C>T	ENST00000294600.2	+	3	636	c.552C>T	c.(550-552)gaC>gaT	p.D184D		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	184								p.D184D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CGAACGTGGACGGTGAGGGAG	0.647																																						uc001akv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(550-552)GAC>GAT		coiled-coil domain containing 27							96.0	103.0	100.0					1																	3672130		2203	4300	6503	SO:0001630	splice_region_variant	148870							g.chr1:3672130C>T		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.553+1C>T	1.37:g.3672130C>T							p.D184D	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	3	633	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	184					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.552C>T	CCDS50.1																																																																																				0.647	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1		NM_152492	Silent	21	228	0	0	0	0.012319	0	21	228		
CAMTA1	23261	broad.mit.edu	37	1	7798119	7798119	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:7798119C>G	ENST00000303635.7	+	16	3966	c.3759C>G	c.(3757-3759)ttC>ttG	p.F1253L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.F1253L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F1253L(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGAGTACTTCCAGACAAGGC	0.488			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NaN		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(3757-3759)TTC>TTG		calmodulin-binding transcription activator 1							74.0	72.0	73.0					1																	7798119		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7798119C>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3759C>G	1.37:g.7798119C>G	ENSP00000306522:p.Phe1253Leu					CAMTA1_uc010nzv.1_Missense_Mutation_p.F340L|CAMTA1_uc001aok.3_Missense_Mutation_p.F296L|CAMTA1_uc001aoj.2_Missense_Mutation_p.F209L	p.F1253L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	16	3966	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1253					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.3759C>G	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.585459|1.585459	0.28268|0.28268	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646|ENST00000495233	T;T|.	0.18960|.	2.18;2.18|.	5.17|5.17	4.25|4.25	0.50352|0.50352	.|.	0.101176|.	0.64402|.	N|.	0.000002|.	T|T	0.42743|0.42743	0.1216|0.1216	L|L	0.28274|0.28274	0.84|0.84	0.38450|0.38450	D|D	0.946932|0.946932	B;B;B;B|.	0.13145|.	0.002;0.007;0.007;0.002|.	B;B;B;B|.	0.12156|.	0.007;0.007;0.007;0.004|.	T|T	0.33701|0.33701	-0.9858|-0.9858	10|5	0.02654|.	T|.	1|.	-13.5491|-13.5491	7.5661|7.5661	0.27879|0.27879	0.0:0.7636:0.0:0.2364|0.0:0.7636:0.0:0.2364	.|.	1253;340;209;1253|.	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1|.	.;.;.;CMTA1_HUMAN|.	L|C	1253;1253;340;209|210	ENSP00000306522:F1253L;ENSP00000402561:F1253L|.	ENSP00000306522:F1253L|.	F|S	+|+	3|2	2|0	CAMTA1|CAMTA1	7720706|7720706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.360000|1.360000	0.34125|0.34125	2.398000|2.398000	0.81561|0.81561	0.655000|0.655000	0.94253|0.94253	TTC|TCC		0.488	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3		NM_015215		26	103	0	0	0	0.027356	0	26	103		
PTCHD2	57540	broad.mit.edu	37	1	11596720	11596720	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:11596720C>T	ENST00000294484.6	+	21	4294	c.4156C>T	c.(4156-4158)Ctg>Ttg	p.L1386L	PTCHD2_ENST00000304391.6_3'UTR|PTCHD2_ENST00000389575.3_Silent_p.L1386L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1386					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.L1603L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TAAGATTCCCCTGCCCGCAGG	0.672																																						uc001ash.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(4156-4158)CTG>TTG		patched domain containing 2							9.0	10.0	10.0					1																	11596720		1861	4078	5939	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596720C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.4156C>T	1.37:g.11596720C>T							p.L1386L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	4294	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1386			Cytoplasmic (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.4156C>T	CCDS41247.1																																																																																				0.672	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2		XM_052561		3	10	0	0	0	0.004672	0	3	10		
PADI4	23569	broad.mit.edu	37	1	17690129	17690129	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:17690129G>A	ENST00000375448.4	+	16	1897	c.1871G>A	c.(1870-1872)gGc>gAc	p.G624D		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	624					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.G624D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAGCCACTGGGCCTCCAGTGC	0.617																																						uc001baj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1870-1872)GGC>GAC		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						69.0	59.0	63.0					1																	17690129		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17690129G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1871G>A	1.37:g.17690129G>A	ENSP00000364597:p.Gly624Asp						p.G624D	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	16	1899	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	624					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.1871G>A	CCDS180.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779630	0.70107	.	.	ENSG00000159339	ENST00000375448	T	0.39056	1.1	4.68	4.68	0.58851	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	H	0.96080	3.765	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.84706	0.0731	10	0.87932	D	0	-31.4381	16.5049	0.84268	0.0:0.0:1.0:0.0	.	624	Q9UM07	PADI4_HUMAN	D	624	ENSP00000364597:G624D	ENSP00000364597:G624D	G	+	2	0	PADI4	17562716	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	7.739000	0.84976	2.291000	0.77112	0.561000	0.74099	GGC		0.617	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1		NM_012387		7	47	0	0	0	0.00308	0	7	47		
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542																																					Ovarian(68;897 1494 3282 17478)	uc001bjm.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|central_nervous_system(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1696-1698)CCT>CAT		serine/arginine repetitive matrix 1							53.0	45.0	48.0					1																	24993374		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993374C>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1697C>A	1.37:g.24993374C>A	ENSP00000326261:p.Pro566His					SRRM1_uc010oel.1_Missense_Mutation_p.P578H|SRRM1_uc009vrh.1_Missense_Mutation_p.P539H|SRRM1_uc009vri.1_Missense_Mutation_p.P495H|SRRM1_uc010oem.1_RNA	p.P566H	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	1921	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	566			Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1697C>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173271	0.78452	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56776	0.44;0.65;0.71	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.70613	0.3244	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68074	-0.5505	10	0.42905	T	0.14	-3.0627	19.3453	0.94361	0.0:1.0:0.0:0.0	.	578;566	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	H	566;578;575	ENSP00000326261:P566H;ENSP00000391430:P578H;ENSP00000363510:P575H	ENSP00000326261:P566H	P	+	2	0	SRRM1	24865961	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.865000	0.62998	2.654000	0.90174	0.650000	0.86243	CCT		0.542	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2		NM_005839		5	75	1	0	1.76689e-08	0.006214	1.93927e-08	5	75		
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557																																					Ovarian(68;897 1494 3282 17478)	uc001bjm.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|central_nervous_system(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1708-1710)CGC>CTC		serine/arginine repetitive matrix 1							54.0	45.0	48.0					1																	24993386		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993386G>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1709G>T	1.37:g.24993386G>T	ENSP00000326261:p.Arg570Leu					SRRM1_uc010oel.1_Missense_Mutation_p.R582L|SRRM1_uc009vrh.1_Missense_Mutation_p.R543L|SRRM1_uc009vri.1_Missense_Mutation_p.R499L|SRRM1_uc010oem.1_RNA	p.R570L	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	1933	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	570			Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1709G>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693027	0.88735	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.34667	1.35;1.35;1.35	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.58104	0.2099	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76575	0.988;0.972	T	0.57318	-0.7832	10	0.62326	D	0.03	-1.2563	19.3453	0.94361	0.0:0.0:1.0:0.0	.	582;570	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	L	570;582;579	ENSP00000326261:R570L;ENSP00000391430:R582L;ENSP00000363510:R579L	ENSP00000326261:R570L	R	+	2	0	SRRM1	24865973	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	2.654000	0.90174	0.650000	0.86243	CGC		0.557	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2		NM_005839		5	77	1	0	0.000673444	0.008291	0.000715866	5	77		
LSM10	84967	broad.mit.edu	37	1	36859515	36859515	+	Silent	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:36859515G>C	ENST00000315732.2	-	2	365	c.216C>G	c.(214-216)ctC>ctG	p.L72L	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	72					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)	p.L72L(1)		upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				CTGTCACAAAGAGGTCATCCA	0.552																																						uc001cao.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(214-216)CTC>CTG		LSM10, U7 small nuclear RNA associated							193.0	140.0	158.0					1																	36859515		2203	4300	6503	SO:0001819	synonymous_variant	84967				histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding	g.chr1:36859515G>C	AF394685	CCDS408.1	1p34.3	2008-02-05			ENSG00000181817	ENSG00000181817			17562	protein-coding gene	gene with protein product						11574479	Standard	NM_032881		Approved	MGC15749	uc001cao.1	Q969L4	OTTHUMG00000008140	ENST00000315732.2:c.216C>G	1.37:g.36859515G>C							p.L72L	NM_032881	NP_116270	Q969L4	LSM10_HUMAN			2	366	-		Myeloproliferative disorder(586;0.0393)	72						Silent	SNP	ENST00000315732.2	37	c.216C>G	CCDS408.1																																																																																				0.552	LSM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022294.1		NM_032881		21	83	0	0	0	0.010504	0	21	83		
TTLL7	79739	broad.mit.edu	37	1	84373315	84373315	+	Missense_Mutation	SNP	G	G	A	rs143330409		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:84373315G>A	ENST00000260505.8	-	16	2193	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	606					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.R606W(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GAGATGGACCGAGGGCAGCTG	0.468																																						uc001djc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1816-1818)CGG>TGG		tubulin tyrosine ligase-like family, member 7		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	61.0	66.0		1816	5.3	1.0	1	dbSNP_134	66	0,8600		0,0,4300	no	missense	TTLL7	NM_024686.4	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	606/888	84373315	1,13005	2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84373315G>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1816C>T	1.37:g.84373315G>A	ENSP00000260505:p.Arg606Trp					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	p.R606W	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	16	2212	-			606					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.1816C>T	CCDS690.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775621	0.90195	2.27E-4	0.0	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.04970	3.52	5.34	5.34	0.76211	.	0.277542	0.32002	N	0.006733	T	0.16041	0.0386	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	T	0.00603	-1.1649	10	0.87932	D	0	.	18.6485	0.91421	0.0:0.0:1.0:0.0	.	606	Q6ZT98	TTLL7_HUMAN	W	606;383;606	ENSP00000260505:R606W	ENSP00000260505:R606W	R	-	1	2	TTLL7	84145903	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.287000	0.78681	2.499000	0.84300	0.460000	0.39030	CGG		0.468	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1		NM_024686		5	34	0	0	0	0.021553	0	5	34		
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						uc001end.3		NaN																	5	Substitution - Missense(5)		skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)		0						c.(10588-10590)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.E3530K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10623	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10588G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001039703		5	82	0	0	0	0.021553	0	5	82		
FMO3	2328	broad.mit.edu	37	1	171086316	171086316	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:171086316C>T	ENST00000367755.4	+	9	1444	c.1333C>T	c.(1333-1335)Ccc>Tcc	p.P445S	FMO3_ENST00000538429.1_Missense_Mutation_p.P382S|FMO3_ENST00000542847.1_Missense_Mutation_p.P425S|FMO3_ENST00000392085.2_Missense_Mutation_p.P445S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	445				KP -> T (in Ref. 1; AAA86284). {ECO:0000305}.	drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.P445S(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGGGCAAAGCCCAACATCCC	0.483																																						uc001ghi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1333-1335)CCC>TCC		flavin containing monooxygenase 3							106.0	100.0	102.0					1																	171086316		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086316C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1333C>T	1.37:g.171086316C>T	ENSP00000356729:p.Pro445Ser					FMO3_uc001ghh.2_Missense_Mutation_p.P445S|FMO3_uc010pmb.1_Missense_Mutation_p.P425S|FMO3_uc010pmc.1_Missense_Mutation_p.P382S	p.P445S	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			9	1444	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		445	KP -> T (in Ref. 1; AAA86284).				B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1333C>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795620	0.90453	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.34	5.34	0.76211	.	0.173902	0.52532	D	0.000079	T	0.81413	0.4817	M	0.91140	3.18	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.988	P;D;D	0.71414	0.869;0.954;0.973	D	0.85774	0.1357	10	0.87932	D	0	-4.0815	18.644	0.91405	0.0:1.0:0.0:0.0	.	382;425;445	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	S	445;445;425;382	ENSP00000356729:P445S;ENSP00000375935:P445S;ENSP00000444073:P425S;ENSP00000439500:P382S	ENSP00000356729:P445S	P	+	1	0	FMO3	169352940	1.000000	0.71417	0.876000	0.34364	0.940000	0.58332	6.090000	0.71397	2.464000	0.83262	0.655000	0.94253	CCC		0.483	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		NM_006894		39	51	0	0	0	0.025465	0	39	51		
TNN	63923	broad.mit.edu	37	1	175067712	175067712	+	Silent	SNP	C	C	T	rs200734177		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:175067712C>T	ENST00000239462.4	+	9	2213	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	700	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.A700A(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCAAGAAGGCCGACACCAAGG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		19838	0.001		0.0	False		,,,				2504	0.0					uc001gkl.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|endometrium(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2098-2100)GCC>GCT		tenascin N precursor							86.0	77.0	80.0					1																	175067712		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175067712C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2100C>T	1.37:g.175067712C>T						TNN_uc010pmx.1_Silent_p.A611A	p.A700A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	9	2213	+		Breast(1374;0.000962)	700			Fibronectin type-III 5.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2100C>T	CCDS30943.1																																																																																				0.572	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1		XM_040527		33	91	0	0	0	0.015359	0	33	91		
KDM5B	10765	broad.mit.edu	37	1	202710600	202710600	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:202710600C>T	ENST00000367265.3	-	19	4004	c.2840G>A	c.(2839-2841)gGg>gAg	p.G947E	KDM5B_ENST00000367264.2_Missense_Mutation_p.G983E	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	947					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G947E(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGGGGCCAGCCCTACCCCTAG	0.547																																						uc001gyf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(2839-2841)GGG>GAG		jumonji, AT rich interactive domain 1B							74.0	70.0	71.0					1																	202710600		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202710600C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2840G>A	1.37:g.202710600C>T	ENSP00000356234:p.Gly947Glu					KDM5B_uc009xag.2_Missense_Mutation_p.G983E|KDM5B_uc001gyg.1_Missense_Mutation_p.G789E	p.G947E	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			19	2956	-			947					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2840G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241929	0.79912	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.39592	1.07;1.07;1.07	5.95	5.95	0.96441	Lysine-specific demethylase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	L	0.56769	1.78	0.80722	D	1	D;P	0.89917	1.0;0.616	D;B	0.91635	0.999;0.444	T	0.58509	-0.7624	10	0.44086	T	0.13	-27.1296	20.3789	0.98926	0.0:1.0:0.0:0.0	.	983;947	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	E	947;789;983;789	ENSP00000356234:G947E;ENSP00000356233:G983E;ENSP00000235790:G789E	ENSP00000235790:G789E	G	-	2	0	KDM5B	200977223	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	5.995000	0.70631	2.826000	0.97356	0.563000	0.77884	GGG		0.547	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618		35	61	0	0	0	0.015359	0	35	61		
OR2T1	26696	broad.mit.edu	37	1	248570286	248570286	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:248570286C>T	ENST00000366474.1	+	1	991	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L331F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TTACACCATTCTCACACCCAT	0.527																																						uc010pzm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(991-993)CTC>TTC		olfactory receptor, family 2, subfamily T,							190.0	185.0	187.0					1																	248570286		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570286C>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.991C>T	1.37:g.248570286C>T	ENSP00000355430:p.Leu331Phe						p.L331F	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	991	+	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)		331			Helical; Name=7; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.991C>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.246904	0.39697	.	.	ENSG00000175143	ENST00000366474	T	0.00202	8.56	5.19	0.8	0.18672	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33057	U	0.005327	T	0.00271	0.0008	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.56153	-0.8026	10	0.35671	T	0.21	.	8.3914	0.32531	0.0:0.2623:0.5609:0.1768	.	331	O43869	OR2T1_HUMAN	F	331	ENSP00000355430:L331F	ENSP00000355430:L331F	L	+	1	0	OR2T1	246636909	0.004000	0.15560	0.908000	0.35775	0.991000	0.79684	-0.113000	0.10774	0.166000	0.19597	0.655000	0.94253	CTC		0.527	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2				60	210	0	0	0	0.01441	0	60	210		
INPP5F	22876	broad.mit.edu	37	10	121557048	121557048	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr10:121557048A>G	ENST00000361976.2	+	8	1110	c.944A>G	c.(943-945)cAt>cGt	p.H315R	INPP5F_ENST00000369083.3_Missense_Mutation_p.H315R	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.H315R(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGTTGATTCATGTTCATAAT	0.423																																						uc001leo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(943-945)CAT>CGT		inositol polyphosphate-5-phosphatase F							111.0	97.0	102.0					10																	121557048		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121557048A>G	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.944A>G	10.37:g.121557048A>G	ENSP00000354519:p.His315Arg						p.H315R	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	8	1110	+		Lung NSC(174;0.109)|all_lung(145;0.142)	315			SAC.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.944A>G	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208173	0.39003	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.55930	0.49;0.49	5.65	5.65	0.86999	Synaptojanin, N-terminal (2);	0.050918	0.85682	D	0.000000	T	0.44705	0.1306	L	0.41710	1.295	0.80722	D	1	B	0.26258	0.145	B	0.23150	0.044	T	0.30679	-0.9970	10	0.22706	T	0.39	-25.4537	16.1611	0.81712	1.0:0.0:0.0:0.0	.	315	Q9Y2H2	SAC2_HUMAN	R	315	ENSP00000354519:H315R;ENSP00000358079:H315R	ENSP00000354519:H315R	H	+	2	0	INPP5F	121547038	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.482000	0.90439	2.272000	0.75746	0.460000	0.39030	CAT		0.423	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1		NM_014937		12	16	0	0	0	0.020292	0	12	16		
OR2AG2	338755	broad.mit.edu	37	11	6789447	6789447	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:6789447C>T	ENST00000338569.2	-	1	839	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AACATCCCGACCACAATCAGG	0.483																																						uc001meq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(742-744)GTC>ATC		olfactory receptor, family 2, subfamily AG,							135.0	119.0	125.0					11																	6789447		2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789447C>T	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.742G>A	11.37:g.6789447C>T	ENSP00000342697:p.Val248Ile						p.V248I	NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	742	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	248			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000338569.2	37	c.742G>A	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670244	0.47677	.	.	ENSG00000188124	ENST00000338569	T	0.00340	8.04	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000328	T	0.00845	0.0028	M	0.79926	2.475	0.32288	N	0.566768	D	0.89917	1.0	D	0.91635	0.999	T	0.49204	-0.8964	10	0.66056	D	0.02	.	15.4428	0.75200	0.0:1.0:0.0:0.0	.	248	A6NM03	O2AG2_HUMAN	I	248	ENSP00000342697:V248I	ENSP00000342697:V248I	V	-	1	0	OR2AG2	6746023	0.087000	0.21565	0.974000	0.42286	0.208000	0.24298	0.709000	0.25734	2.777000	0.95525	0.655000	0.94253	GTC		0.483	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1		NM_001004490		23	17	0	0	0	0.012319	0	23	17		
OR5D18	219438	broad.mit.edu	37	11	55587220	55587220	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:55587220A>T	ENST00000333976.4	+	1	135	c.115A>T	c.(115-117)Act>Tct	p.T39S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T39S(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)				CTACAATGTCACTGTGCTAGG	0.453																																						uc010rin.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(115-117)ACT>TCT		olfactory receptor, family 5, subfamily D,							175.0	161.0	166.0					11																	55587220		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587220A>T	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.115A>T	11.37:g.55587220A>T	ENSP00000335025:p.Thr39Ser						p.T39S	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	115	+		all_epithelial(135;0.208)	39			Helical; Name=1; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.115A>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	11.95	1.793084	0.31685	.	.	ENSG00000186119	ENST00000333976	T	0.00507	6.92	4.94	4.94	0.65067	.	0.185454	0.26646	N	0.023236	T	0.00608	0.0020	L	0.46741	1.465	0.23331	N	0.997899	B	0.20164	0.042	B	0.28305	0.088	T	0.47289	-0.9129	10	0.51188	T	0.08	-11.5214	13.8707	0.63617	1.0:0.0:0.0:0.0	.	39	Q8NGL1	OR5DI_HUMAN	S	39	ENSP00000335025:T39S	ENSP00000335025:T39S	T	+	1	0	OR5D18	55343796	0.105000	0.21958	0.218000	0.23776	0.502000	0.33828	2.677000	0.46892	2.031000	0.59945	0.514000	0.50259	ACT		0.453	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1		NM_001001952		102	101	0	0	0	0.01441	0	102	101		
TMEM123	114908	broad.mit.edu	37	11	102272686	102272686	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:102272686G>A	ENST00000398136.2	-	3	829	c.409C>T	c.(409-411)Cac>Tac	p.H137Y	TMEM123_ENST00000361236.3_Missense_Mutation_p.H118Y|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_Missense_Mutation_p.H49Y	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	137	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.H137Y(1)		breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		GAACTATTGTGGGTTACGGTC	0.373																																						uc001pha.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)	2						c.(409-411)CAC>TAC		transmembrane protein 123 precursor							382.0	347.0	359.0					11																	102272686		1978	4166	6144	SO:0001583	missense	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272686G>A	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.409C>T	11.37:g.102272686G>A	ENSP00000381204:p.His137Tyr					TMEM123_uc009yxc.2_Missense_Mutation_p.H118Y	p.H137Y	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	3	830	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	137			Thr-rich.|Extracellular (Potential).		Q8IWS2|Q96QV2	Missense_Mutation	SNP	ENST00000398136.2	37	c.409C>T	CCDS41702.1	.	.	.	.	.	.	.	.	.	.	G	3.054	-0.194768	0.06259	.	.	ENSG00000152558	ENST00000361236;ENST00000398136;ENST00000532161;ENST00000528969	T;T;T;T	0.44482	0.92;1.83;0.92;0.92	5.44	4.48	0.54585	.	0.441279	0.21782	N	0.069195	T	0.45458	0.1343	L	0.42245	1.32	0.09310	N	0.999999	D;D	0.64830	0.987;0.994	P;P	0.57776	0.827;0.827	T	0.26395	-1.0104	10	0.09590	T	0.72	-1.0845	12.0592	0.53552	0.0:0.0:0.8284:0.1716	.	118;137	Q8N131-2;Q8N131	.;PORIM_HUMAN	Y	118;137;49;49	ENSP00000355285:H118Y;ENSP00000381204:H137Y;ENSP00000435331:H49Y;ENSP00000434976:H49Y	ENSP00000355285:H118Y	H	-	1	0	TMEM123	101777896	0.935000	0.31712	0.463000	0.27130	0.134000	0.20937	1.775000	0.38584	2.712000	0.92718	0.563000	0.77884	CAC		0.373	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1		NM_052932		939	45	0	0	0	0.01441	0	939	45		
CD163	9332	broad.mit.edu	37	12	7656275	7656275	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:7656275G>A	ENST00000359156.4	-	1	214	c.12C>T	c.(10-12)ctC>ctT	p.L4L	CD163_ENST00000396620.3_Silent_p.L4L|CD163_ENST00000541972.1_5'Flank|CD163_ENST00000432237.2_Silent_p.L4L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	4					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L4L(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GCACCATTCTGAGTTTGCTCA	0.318																																						uc001qsz.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(10-12)CTC>CTT		CD163 antigen isoform a							107.0	107.0	107.0					12																	7656275		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7656275G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.12C>T	12.37:g.7656275G>A						CD163_uc001qta.3_Silent_p.L4L|CD163_uc009zfw.2_Silent_p.L4L	p.L4L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			1	140	-			4					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.12C>T	CCDS8578.1																																																																																				0.318	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2		NM_004244, NM_203416		10	68	0	0	0	0.013537	0	10	68		
ABCC9	10060	broad.mit.edu	37	12	21997778	21997778	+	Silent	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:21997778A>G	ENST00000261201.4	-	25	3167	c.3168T>C	c.(3166-3168)acT>acC	p.T1056T	ABCC9_ENST00000261200.4_Silent_p.T1056T|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.T1020T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1056	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.T1056T(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TCCATTCTACAGTGAGGGATG	0.418																																						uc001rfi.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)|skin(2)	6						c.(3166-3168)ACT>ACC		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						150.0	147.0	148.0					12																	21997778		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997778A>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3168T>C	12.37:g.21997778A>G						ABCC9_uc001rfh.2_Silent_p.T1056T|ABCC9_uc001rfj.1_Silent_p.T1020T	p.T1056T	NM_005691	NP_005682	O60706	ABCC9_HUMAN			25	3188	-			1056			ABC transmembrane type-1 2.|Cytoplasmic (Potential).		O60707	Silent	SNP	ENST00000261201.4	37	c.3168T>C	CCDS8694.1																																																																																				0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691		53	69	0	0	0	0.01441	0	53	69		
CAPRIN2	65981	broad.mit.edu	37	12	30873763	30873763	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:30873763C>A	ENST00000298892.5	-	12	2880	c.2130G>T	c.(2128-2130)atG>atT	p.M710I	CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.M377I|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.M710I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.M710I	NM_023925.3	NP_076414.2			caprin family member 2									p.M710I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTCTGAGGTCATAAACTCTG	0.378																																						uc001rji.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2128-2130)ATG>ATT		C1q domain containing 1 isoform 1							91.0	94.0	93.0					12																	30873763		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30873763C>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2130G>T	12.37:g.30873763C>A	ENSP00000298892:p.Met710Ile					CAPRIN2_uc001rjf.1_Missense_Mutation_p.M507I|CAPRIN2_uc001rjg.1_Missense_Mutation_p.M377I|CAPRIN2_uc001rjh.1_Missense_Mutation_p.M710I|CAPRIN2_uc001rjj.1_Missense_Mutation_p.M377I|CAPRIN2_uc001rjk.3_Missense_Mutation_p.M710I|CAPRIN2_uc001rjl.3_Intron|CAPRIN2_uc001rjm.1_Intron	p.M710I	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			12	2881	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		710						Missense_Mutation	SNP	ENST00000298892.5	37	c.2130G>T	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783179	0.16189	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.21361	2.01;2.03;2.01;2.01;2.01;2.01	4.72	1.65	0.23941	.	1.127530	0.06396	N	0.717833	T	0.10895	0.0266	N	0.08118	0	0.20489	N	0.999893	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.29701	-1.0003	10	0.38643	T	0.18	0.3723	5.4085	0.16335	0.0:0.5888:0.1497:0.2616	.	710;710;710;710	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	I	456;710;710;377;710;629	ENSP00000415407:M456I;ENSP00000298892:M710I;ENSP00000251071:M710I;ENSP00000309785:M377I;ENSP00000391479:M710I;ENSP00000438010:M629I	ENSP00000251071:M710I	M	-	3	0	CAPRIN2	30765030	0.257000	0.24022	0.962000	0.40283	0.995000	0.86356	0.443000	0.21644	0.676000	0.31285	0.591000	0.81541	ATG		0.378	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1		NM_023925		36	118	1	0	6.97489e-18	0.021022	8.04795e-18	36	118		
SLC2A13	114134	broad.mit.edu	37	12	40499322	40499322	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:40499322A>C	ENST00000280871.4	-	1	339	c.289T>G	c.(289-291)Tat>Gat	p.Y97D	SLC2A13_ENST00000380858.1_Missense_Mutation_p.Y97D	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	97					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.Y78D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCGGTGTCATAGCCAAACAGG	0.697										HNSCC(50;0.14)																												uc010skm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(289-291)TAT>GAT		solute carrier family 2 (facilitated glucose							11.0	12.0	11.0					12																	40499322		2169	4258	6427	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40499322A>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.289T>G	12.37:g.40499322A>C	ENSP00000280871:p.Tyr97Asp	HNSCC(50;0.14)				SLC2A13_uc001rmf.2_Missense_Mutation_p.Y97D	p.Y97D	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			1	340	-		Lung NSC(34;0.105)|all_lung(34;0.123)	97			Helical; Name=1; (Potential).		Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.289T>G	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048197	0.75846	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	D;D	0.84298	-1.83;-1.83	3.88	3.88	0.44766	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000003	D	0.94922	0.8358	H	0.98178	4.165	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96030	0.9016	10	0.87932	D	0	-5.3531	12.7198	0.57136	1.0:0.0:0.0:0.0	.	97;97	Q96QE2;E9PE47	MYCT_HUMAN;.	D	97	ENSP00000280871:Y97D;ENSP00000370239:Y97D	ENSP00000280871:Y97D	Y	-	1	0	SLC2A13	38785589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.873000	0.87193	1.398000	0.46701	0.379000	0.24179	TAT		0.697	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2				6	3	0	0	0	0.004482	0	6	3		
CNTN1	1272	broad.mit.edu	37	12	41421677	41421677	+	Missense_Mutation	SNP	G	G	A	rs143121881		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:41421677G>A	ENST00000551295.2	+	22	2846	c.2729G>A	c.(2728-2730)aGg>aAg	p.R910K	CNTN1_ENST00000347616.1_Missense_Mutation_p.R910K|CNTN1_ENST00000348761.2_Missense_Mutation_p.R899K|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	910	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R910K(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)				CAGCCTCCAAGGATCATCAGT	0.393																																						uc001rmm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2728-2730)AGG>AAG		contactin 1 isoform 1 precursor		G	LYS/ARG,LYS/ARG	0,4406		0,0,2203	128.0	112.0	118.0		2729,2696	4.8	0.9	12	dbSNP_134	118	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CNTN1	NM_001843.2,NM_175038.1	26,26	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	910/1019,899/1008	41421677	2,13004	2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41421677G>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.2729G>A	12.37:g.41421677G>A	ENSP00000447006:p.Arg910Lys					CNTN1_uc001rmn.1_Missense_Mutation_p.R899K	p.R910K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			22	2842	+	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)	910			Fibronectin type-III 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2729G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750531	0.49257	0.0	2.33E-4	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.52983	0.64;0.64;0.64	5.71	4.82	0.62117	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.053165	0.85682	D	0.000000	T	0.40222	0.1108	L	0.35723	1.085	0.80722	D	1	B;B	0.15473	0.013;0.007	B;B	0.17979	0.02;0.009	T	0.17930	-1.0353	10	0.36615	T	0.2	.	15.1443	0.72637	0.068:0.0:0.932:0.0	.	899;910	Q12860-2;Q12860	.;CNTN1_HUMAN	K	910;910;899	ENSP00000447006:R910K;ENSP00000325660:R910K;ENSP00000261160:R899K	ENSP00000325660:R910K	R	+	2	0	CNTN1	39707944	1.000000	0.71417	0.866000	0.34008	0.996000	0.88848	4.067000	0.57527	1.562000	0.49601	0.557000	0.71058	AGG		0.393	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2		NM_001843		49	26	0	0	0	0.01441	0	49	26		
ACVRL1	94	broad.mit.edu	37	12	52307405	52307405	+	Missense_Mutation	SNP	G	G	A	rs369146413		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:52307405G>A	ENST00000388922.4	+	4	659	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000550683.1_Missense_Mutation_p.V140M	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	126					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.V126M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTGGGCCCCGTGCTGGCCTT	0.682													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13796	0.0		0.0	False		,,,				2504	0.0					uc001rzj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)	2						c.(376-378)GTG>ATG		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)	G	MET/VAL,MET/VAL	0,4404		0,0,2202	23.0	22.0	22.0		376,376	2.7	0.8	12		22	1,8599		0,1,4299	no	missense,missense	ACVRL1	NM_000020.2,NM_001077401.1	21,21	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	126/504,126/504	52307405	1,13003	2202	4300	6502	SO:0001583	missense	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52307405G>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.376G>A	12.37:g.52307405G>A	ENSP00000373574:p.Val126Met					ACVRL1_uc001rzk.2_Missense_Mutation_p.V126M|ACVRL1_uc010snm.1_Intron	p.V126M	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	4	659	+			126			Helical; (Potential).		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.376G>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181448	0.38511	0.0	1.16E-4	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683	D;D	0.87887	-2.28;-2.31	5.63	2.66	0.31614	.	0.638010	0.13048	N	0.417981	T	0.80964	0.4725	N	0.14661	0.345	0.34403	D	0.695454	P	0.50272	0.933	P	0.50791	0.65	T	0.80207	-0.1478	10	0.72032	D	0.01	.	6.4506	0.21902	0.1322:0.2847:0.5831:0.0	.	126	P37023	ACVL1_HUMAN	M	126;126;140	ENSP00000373574:V126M;ENSP00000447884:V140M	ENSP00000267008:V126M	V	+	1	0	ACVRL1	50593672	1.000000	0.71417	0.789000	0.31954	0.710000	0.40934	3.421000	0.52742	0.251000	0.21505	-0.302000	0.09304	GTG		0.682	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2				24	10	0	0	0	0.027356	0	24	10		
ATP5B	506	broad.mit.edu	37	12	57039660	57039660	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:57039660G>C	ENST00000262030.3	-	1	138	c.88C>G	c.(88-90)Cag>Gag	p.Q30E	ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.Q30E|SNORD59A_ENST00000384304.1_RNA	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	30					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.Q30E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTAAGAGCTGAGCTGGGGGC	0.657																																						uc001slr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(88-90)CAG>GAG		mitochondrial ATP synthase beta subunit							17.0	18.0	17.0					12																	57039660		2200	4298	6498	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57039660G>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.88C>G	12.37:g.57039660G>C	ENSP00000262030:p.Gln30Glu					SNORD59B_uc001sls.1_5'Flank|SNORD59A_uc001slt.1_5'Flank	p.Q30E	NM_001686	NP_001677	P06576	ATPB_HUMAN			1	193	-			30					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.88C>G	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.94|10.94	1.493199|1.493199	0.26774|0.26774	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104;ENST00000551020;ENST00000553007|ENST00000552959	D;D;T;T|.	0.81996|.	-1.56;-1.56;-0.37;1.02|.	5.41|5.41	3.56|3.56	0.40772|0.40772	.|.	0.296294|.	0.37530|.	N|.	0.002049|.	T|.	0.23330|.	0.0564|.	N|N	0.14661|0.14661	0.345|0.345	0.24460|0.24460	N|N	0.994446|0.994446	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.19418|.	-1.0306|.	10|.	0.06494|.	T|.	0.89|.	-5.7465|-5.7465	10.1934|10.1934	0.43041|0.43041	0.0:0.1478:0.6983:0.1538|0.0:0.1478:0.6983:0.1538	.|.	30|.	P06576|.	ATPB_HUMAN|.	E|X	30|27	ENSP00000262030:Q30E;ENSP00000450297:Q30E;ENSP00000446677:Q30E;ENSP00000447571:Q30E|.	ENSP00000262030:Q30E|.	Q|S	-|-	1|2	0|0	ATP5B|ATP5B	55325927|55325927	0.998000|0.998000	0.40836|0.40836	0.739000|0.739000	0.30968|0.30968	0.411000|0.411000	0.31082|0.31082	3.370000|3.370000	0.52372|0.52372	0.829000|0.829000	0.34733|0.34733	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.657	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1		NM_001686		3	13	0	0	0	0.004672	0	3	13		
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:48947629G>T	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTATTTTAACGTAAGCCATAT	0.279		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		38	Unknown(23)|Whole gene deletion(15)	p.?(14)	bone(12)|eye(6)|urinary_tract(5)|breast(5)|endometrium(3)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CS890133|CS982341	RB1	S		c.e12+1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						80.0	87.0	84.0					13																	48947629		2202	4287	6489	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48947629G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1215+1G>T	13.37:g.48947629G>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Splice_Site_p.N106_splice	p.N405_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1381	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1215_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621428	0.66787	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0805	0.93179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47845630	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.247000	0.78257	2.510000	0.84645	0.563000	0.77884	.		0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			Intron	66	54	1	0	1.17004e-41	0.01441	1.41032e-41	66	54		
LMO7	4008	broad.mit.edu	37	13	76427232	76427232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:76427232G>T	ENST00000321797.8	+	26	4391	c.3670G>T	c.(3670-3672)Gaa>Taa	p.E1224*	LMO7_ENST00000526202.1_Nonsense_Mutation_p.E1101*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.E1224*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.E1509*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.E1509*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E1175*			Q8WWI1	LMO7_HUMAN	LIM domain 7	1509					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1509*(1)|p.E1175*(1)|p.E1224*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTTCAGAGGCGAATCTTTAGA	0.378																																						uc001vjv.2		NaN																	3	Substitution - Nonsense(3)		urinary_tract(3)	large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(3670-3672)GAA>TAA		LIM domain only 7 isoform 2							93.0	93.0	93.0					13																	76427232		2203	4300	6503	SO:0001587	stop_gained	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76427232G>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3670G>T	13.37:g.76427232G>T	ENSP00000317802:p.Glu1224*					LMO7_uc010thv.1_Nonsense_Mutation_p.E1175*|LMO7_uc010thw.1_Nonsense_Mutation_p.E1101*	p.E1224*	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	25	4430	+		Breast(118;0.0992)	1509					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	ENST00000321797.8	37	c.3670G>T		.	.	.	.	.	.	.	.	.	.	G	52	20.054588	0.99926	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000321797;ENST00000526202;ENST00000465261	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-26.8706	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	1175;1509;1509;1224;1101;1224	.	ENSP00000317802:E1224X	E	+	1	0	LMO7	75325233	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.901000	0.87382	2.850000	0.98022	0.650000	0.86243	GAA		0.378	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3		NM_005358		27	81	1	0	1.55811e-20	0.008361	1.82909e-20	27	81		
BMP4	652	broad.mit.edu	37	14	54418914	54418914	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr14:54418914C>A	ENST00000245451.4	-	3	420	c.27G>T	c.(25-27)atG>atT	p.M9I	BMP4_ENST00000559087.1_Missense_Mutation_p.M9I|BMP4_ENST00000417573.1_Missense_Mutation_p.M9I|BMP4_ENST00000558984.1_Missense_Mutation_p.M9I	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	9					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|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)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)	p.M9I(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						ATAAAACGACCATCAGCATTC	0.493																																						uc001xal.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(25-27)ATG>ATT		bone morphogenetic protein 4 preproprotein							47.0	50.0	49.0					14																	54418914		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54418914C>A	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.27G>T	14.37:g.54418914C>A	ENSP00000245451:p.Met9Ile					BMP4_uc010aoh.2_Missense_Mutation_p.M9I|BMP4_uc001xao.3_Missense_Mutation_p.M9I|BMP4_uc001xan.3_Missense_Mutation_p.M9I	p.M9I	NM_130851	NP_570912	P12644	BMP4_HUMAN			2	214	-			9					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.27G>T	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600275	0.66332	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.72167	-0.63;-0.63	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	M	0.61703	1.905	0.80722	D	1	D	0.56287	0.975	D	0.66196	0.942	T	0.83225	-0.0066	10	0.72032	D	0.01	.	17.9081	0.88926	0.0:1.0:0.0:0.0	.	9	P12644	BMP4_HUMAN	I	9	ENSP00000245451:M9I;ENSP00000394165:M9I	ENSP00000245451:M9I	M	-	3	0	BMP4	53488664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.589000	0.82641	2.717000	0.92951	0.655000	0.94253	ATG		0.493	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2		NM_001202		42	65	1	0	2.45108e-15	0.00874	2.75746e-15	42	65		
ANGEL1	23357	broad.mit.edu	37	14	77275517	77275517	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr14:77275517T>C	ENST00000251089.2	-	2	646	c.534A>G	c.(532-534)ccA>ccG	p.P178P	ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	178								p.P178P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCAACACCGCTGGGTCCTCTT	0.652																																						uc001xsv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(532-534)CCA>CCG		angel homolog 1							34.0	32.0	33.0					14																	77275517		2203	4300	6503	SO:0001819	synonymous_variant	23357							g.chr14:77275517T>C	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.534A>G	14.37:g.77275517T>C						ANGEL1_uc010tvf.1_Intron	p.P178P	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	2	647	-			178					B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.534A>G	CCDS9852.1																																																																																				0.652	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2		NM_015305		15	37	0	0	0	0.00499	0	15	37		
ATP10A	57194	broad.mit.edu	37	15	25925012	25925012	+	Missense_Mutation	SNP	C	C	A	rs141308074		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:25925012C>A	ENST00000356865.6	-	21	4087	c.3976G>T	c.(3976-3978)Gct>Tct	p.A1326S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1326					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A1326S(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTCCCTGAGCAAAGGTCTCT	0.597																																						uc010ayu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3976-3978)GCT>TCT		ATPase, class V, type 10A							73.0	75.0	74.0					15																	25925012		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925012C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3976G>T	15.37:g.25925012C>A	ENSP00000349325:p.Ala1326Ser						p.A1326S	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4082	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1326			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3976G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	3.331	-0.136647	0.06711	.	.	ENSG00000206190	ENST00000356865	T	0.39229	1.09	5.52	0.454	0.16644	.	1.451380	0.04132	N	0.318061	T	0.26231	0.0640	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.09400	-1.0676	10	0.09843	T	0.71	-0.7944	1.0055	0.01486	0.1891:0.3681:0.1695:0.2732	.	1326	O60312	AT10A_HUMAN	S	1326	ENSP00000349325:A1326S	ENSP00000349325:A1326S	A	-	1	0	ATP10A	23476105	0.001000	0.12720	0.115000	0.21578	0.010000	0.07245	0.038000	0.13862	0.165000	0.19558	-0.251000	0.11542	GCT		0.597	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1		NM_024490		50	50	1	0	1.02067e-35	0.01441	1.21938e-35	50	50		
MAP2K1	5604	broad.mit.edu	37	15	66777338	66777338	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:66777338T>A	ENST00000307102.5	+	7	1235	c.704T>A	c.(703-705)cTc>cAc	p.L235H	MAP2K1_ENST00000566326.1_Missense_Mutation_p.L59H	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.L235H(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CCAGAAAGACTCCAGGGGACT	0.517																																						uc010bhq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(703-705)CTC>CAC		mitogen-activated protein kinase kinase 1							149.0	140.0	143.0					15																	66777338		2201	4299	6500	SO:0001583	missense	5604	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras 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	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66777338T>A	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.704T>A	15.37:g.66777338T>A	ENSP00000302486:p.Leu235His					MAP2K1_uc010ujp.1_Missense_Mutation_p.L213H	p.L235H	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			7	1179	+			235			Protein kinase.			Missense_Mutation	SNP	ENST00000307102.5	37	c.704T>A	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.748481	0.89753	.	.	ENSG00000169032	ENST00000307102	T	0.70749	-0.51	5.65	5.65	0.86999	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	0.82664	0.5086	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84644	0.0697	10	0.87932	D	0	-22.187	15.0666	0.71999	0.0:0.0:0.0:1.0	.	213;235	B4DFY5;Q02750	.;MP2K1_HUMAN	H	235	ENSP00000302486:L235H	ENSP00000302486:L235H	L	+	2	0	MAP2K1	64564392	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.946000	0.87746	2.150000	0.67090	0.383000	0.25322	CTC		0.517	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4				86	143	0	0	0	0.01441	0	86	143		
FBXO22	26263	broad.mit.edu	37	15	76225291	76225291	+	Missense_Mutation	SNP	T	T	G	rs150074021		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:76225291T>G	ENST00000308275.3	+	7	1165	c.1060T>G	c.(1060-1062)Tta>Gta	p.L354V	FBXO22_ENST00000540507.1_Missense_Mutation_p.L250V	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	354					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.L354V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TAGTGTTCCCTTATTCGGCTT	0.408																																						uc002bbk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1060-1062)TTA>GTA		F-box only protein 22 isoform a							218.0	215.0	216.0					15																	76225291		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76225291T>G	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.1060T>G	15.37:g.76225291T>G	ENSP00000307833:p.Leu354Val					FBXO22_uc002bbl.2_Missense_Mutation_p.L250V|FBXO22OS_uc002bbm.1_RNA	p.L354V	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			7	1165	+			354					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.1060T>G	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889548	0.52014	.	.	ENSG00000167196	ENST00000308275;ENST00000540507	.	.	.	5.82	1.03	0.20045	FIST C domain (1);	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.50847	1.595	0.46416	D	0.999036	D	0.89917	1.0	D	0.87578	0.998	T	0.59783	-0.7389	9	0.38643	T	0.18	-20.1167	10.397	0.44207	0.0:0.3534:0.0:0.6466	.	354	Q8NEZ5	FBX22_HUMAN	V	354;250	.	ENSP00000307833:L354V	L	+	1	2	FBXO22	74012346	1.000000	0.71417	0.402000	0.26371	0.907000	0.53573	1.779000	0.38624	-0.085000	0.12573	-1.139000	0.01908	TTA		0.408	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2		NM_147188		49	87	0	0	0	0.01441	0	49	87		
ST20	400410	broad.mit.edu	37	15	80191455	80191455	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr15:80191455C>T	ENST00000478497.1	-	3	737	c.58G>A	c.(58-60)Gta>Ata	p.V20I	MTHFS_ENST00000258874.3_5'Flank|ST20_ENST00000485386.1_Missense_Mutation_p.V20I|MTHFS_ENST00000559722.1_5'Flank|ST20-MTHFS_ENST00000494999.1_Intron|ST20-MTHFS_ENST00000479961.1_Intron|ST20_ENST00000562759.1_Missense_Mutation_p.V20I	NM_001100879.1	NP_001094349.1	Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20	20					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V20I(1)		kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						AGCTTCTTTACAAAGCCATTT	0.318																																						uc002bez.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(58-60)GTA>ATA		cervical cancer suppressor-1							63.0	60.0	61.0					15																	80191455		2203	4300	6503	SO:0001583	missense	400410							g.chr15:80191455C>T	AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000478497.1:c.58G>A	15.37:g.80191455C>T	ENSP00000453502:p.Val20Ile					ST20_uc002bfa.3_Missense_Mutation_p.V20I|MTHFS_uc002bex.3_5'Flank	p.V20I	NM_001100879	NP_001094349	Q9HBF5	ST20_HUMAN			3	738	-			20						Missense_Mutation	SNP	ENST00000478497.1	37	c.58G>A	CCDS42067.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250580	0.39797	.	.	ENSG00000180953	ENST00000322484;ENST00000417278	.	.	.	3.19	-0.302	0.12796	.	.	.	.	.	T	0.19644	0.0472	.	.	.	0.09310	N	1	B	0.32573	0.376	B	0.28784	0.094	T	0.16070	-1.0415	7	0.42905	T	0.14	.	2.0144	0.03495	0.188:0.3151:0.3709:0.126	.	20	Q9HBF5	ST20_HUMAN	I	20	.	ENSP00000319125:V20I	V	-	1	0	ST20	77978510	0.916000	0.31088	0.230000	0.23976	0.891000	0.51852	0.360000	0.20250	-0.168000	0.10853	0.205000	0.17691	GTA		0.318	ST20-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416728.2				18	44	0	0	0	0.008871	0	18	44		
CLUAP1	23059	broad.mit.edu	37	16	3556338	3556338	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:3556338C>G	ENST00000576634.1	+	3	286	c.142C>G	c.(142-144)Ccc>Gcc	p.P48A	CLUAP1_ENST00000341633.5_Missense_Mutation_p.P48A|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000571025.1_Missense_Mutation_p.P48A|CLUAP1_ENST00000417763.2_5'UTR	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	48					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.P48A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TAGATATGAGCCCCAGACTGA	0.483																																						uc002cvk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(142-144)CCC>GCC		clusterin associated protein 1 isoform 1							139.0	123.0	128.0					16																	3556338		2197	4300	6497	SO:0001583	missense	23059					nucleus	protein binding	g.chr16:3556338C>G	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.142C>G	16.37:g.3556338C>G	ENSP00000460850:p.Pro48Ala					CLUAP1_uc002cvj.1_Missense_Mutation_p.P48A|CLUAP1_uc002cvl.1_Missense_Mutation_p.P48A	p.P48A	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN			3	247	+			48					O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	c.142C>G	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218945	0.58560	.	.	ENSG00000103351	ENST00000341633	T	0.77098	-1.07	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	M	0.83483	2.645	0.80722	D	1	D	0.55605	0.972	P	0.60012	0.867	D	0.88197	0.2881	10	0.54805	T	0.06	-14.8111	17.2131	0.86935	0.0:1.0:0.0:0.0	.	48	Q96AJ1	CLUA1_HUMAN	A	48	ENSP00000344392:P48A	ENSP00000344392:P48A	P	+	1	0	CLUAP1	3496339	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	7.408000	0.80041	2.745000	0.94114	0.557000	0.71058	CCC		0.483	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2		NM_024793		80	48	0	0	0	0.01441	0	80	48		
CREBBP	1387	broad.mit.edu	37	16	3788647	3788647	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:3788647C>T	ENST00000262367.5	-	26	5116	c.4307G>A	c.(4306-4308)aGt>aAt	p.S1436N	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1398N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1436	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1436N(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GAAATGAATACTATCCAGATA	0.423			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		2	Substitution - Missense(2)		urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4306-4308)AGT>AAT		CREB binding protein isoform a							66.0	58.0	61.0					16																	3788647		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3788647C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4307G>A	16.37:g.3788647C>T	ENSP00000262367:p.Ser1436Asn					CREBBP_uc002cvw.2_Missense_Mutation_p.S1398N	p.S1436N	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	4511	-		Ovarian(90;0.0266)	1436			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4307G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.456441	0.84317	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.96459	-4.02;-4.02	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	H	0.96239	3.79	0.80722	D	1	D;D	0.56746	0.977;0.977	D;D	0.70016	0.967;0.967	D	0.99486	1.0949	10	0.87932	D	0	-11.4452	19.2588	0.93959	0.0:1.0:0.0:0.0	.	1466;1436	Q4LE28;Q92793	.;CBP_HUMAN	N	1436;1466;1398;25	ENSP00000262367:S1436N;ENSP00000371502:S1398N	ENSP00000262367:S1436N	S	-	2	0	CREBBP	3728648	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.028000	0.70889	2.638000	0.89438	0.561000	0.74099	AGT		0.423	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		33	11	0	0	0	0.010818	0	33	11		
CCP110	9738	broad.mit.edu	37	16	19547561	19547561	+	Silent	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:19547561C>G	ENST00000381396.5	+	4	817	c.570C>G	c.(568-570)acC>acG	p.T190T	CCP110_ENST00000396208.2_Silent_p.T190T|CCP110_ENST00000396212.2_Silent_p.T190T	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	190	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.T190T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTCCAAAGACCTCTTCAGCAA	0.393																																						uc002dgl.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(568-570)ACC>ACG		RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;							112.0	122.0	118.0					16																	19547561		2197	4300	6497	SO:0001819	synonymous_variant	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547561C>G	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.570C>G	16.37:g.19547561C>G						CP110_uc002dgk.3_Silent_p.T190T	p.T190T			O43303	CP110_HUMAN			4	817	+			190			CEP97 binding.		B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.570C>G	CCDS55992.1																																																																																				0.393	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2		NM_014711		126	66	0	0	0	0.01441	0	126	66		
GP2	2813	broad.mit.edu	37	16	20337750	20337750	+	Missense_Mutation	SNP	G	G	C	rs371535965		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:20337750G>C	ENST00000381362.4	-	2	80	c.4C>G	c.(4-6)Cct>Gct	p.P2A	GP2_ENST00000341642.5_Missense_Mutation_p.P2A|GP2_ENST00000302555.5_Missense_Mutation_p.P2A|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Missense_Mutation_p.P2A	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	2					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.P2A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATAAGGTGAGGCATGCAGGTC	0.498																																						uc002dgv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(4-6)CCT>GCT		zymogen granule membrane glycoprotein 2 isoform							96.0	82.0	87.0					16																	20337750		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20337750G>C	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.4C>G	16.37:g.20337750G>C	ENSP00000370767:p.Pro2Ala					GP2_uc002dgw.2_Missense_Mutation_p.P2A|GP2_uc002dgx.2_Missense_Mutation_p.P2A|GP2_uc002dgy.2_Missense_Mutation_p.P2A	p.P2A	NM_001007240	NP_001007241	P55259	GP2_HUMAN			2	87	-			2					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.4C>G	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529206	0.27387	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.90133	-2.62;-2.61;-2.33;-2.22	4.23	-5.69	0.02428	.	.	.	.	.	T	0.81039	0.4740	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.65199	-0.6226	9	0.54805	T	0.06	0.9405	1.1044	0.01690	0.326:0.2408:0.2966:0.1366	.	2;127;2;2	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	A	2;2;2;2;127	ENSP00000304044:P2A;ENSP00000370767:P2A;ENSP00000370765:P2A;ENSP00000343861:P2A	ENSP00000304044:P2A	P	-	1	0	GP2	20245251	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.146000	0.10250	-1.101000	0.03027	-0.165000	0.13383	CCT		0.498	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1		NM_016295		68	30	0	0	0	0.01441	0	68	30		
FTO	79068	broad.mit.edu	37	16	53967950	53967950	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:53967950G>A	ENST00000471389.1	+	8	1515	c.1293G>A	c.(1291-1293)agG>agA	p.R431R	FTO_ENST00000460382.1_Silent_p.R32R|FTO_ENST00000463855.1_Silent_p.R53R|FTO_ENST00000394647.3_Silent_p.R135R|FTO_ENST00000431610.2_Silent_p.R32R	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	431					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.R431R(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGAACAAAGGAATGAAATCT	0.428																																						uc002ehr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1291-1293)AGG>AGA		fat mass and obesity associated							98.0	83.0	88.0					16																	53967950		2198	4300	6498	SO:0001819	synonymous_variant	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53967950G>A	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1293G>A	16.37:g.53967950G>A						FTO_uc010vha.1_Silent_p.R135R|FTO_uc010cbz.2_Silent_p.R32R|FTO_uc002ehs.2_RNA	p.R431R	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			8	1515	+			431					A2RUH1|B2RNS0|Q0P676|Q7Z785	Silent	SNP	ENST00000471389.1	37	c.1293G>A	CCDS32448.1																																																																																				0.428	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1		NM_001080432		4	64	0	0	0	0.009096	0	4	64		
CDH1	999	broad.mit.edu	37	16	68842337	68842337	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:68842337C>T	ENST00000261769.5	+	4	589	c.398C>T	c.(397-399)tCt>tTt	p.S133F	CDH1_ENST00000422392.2_Missense_Mutation_p.S133F|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	133					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.S133F(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCCTCCGTTTCTGGAATCCAA	0.478			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NaN	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		3	Unknown(2)|Substitution - Missense(1)		breast(2)|urinary_tract(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(397-399)TCT>TTT		cadherin 1, type 1 preproprotein							85.0	86.0	86.0					16																	68842337		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68842337C>T	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.398C>T	16.37:g.68842337C>T	ENSP00000261769:p.Ser133Phe					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.S133F	p.S133F	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	4	522	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	133					A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.398C>T	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.445216	0.25987	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.54866	0.55;0.55	5.87	5.87	0.94306	Cadherin-like (1);	0.593339	0.15129	N	0.278931	T	0.47801	0.1465	L	0.32530	0.975	0.21064	N	0.999797	B;P	0.45348	0.003;0.856	B;B	0.39617	0.004;0.305	T	0.51204	-0.8735	10	0.62326	D	0.03	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	133;133	Q9UII8;P12830	.;CADH1_HUMAN	F	133	ENSP00000261769:S133F;ENSP00000414946:S133F	ENSP00000261769:S133F	S	+	2	0	CDH1	67399838	0.049000	0.20398	0.058000	0.19502	0.005000	0.04900	2.295000	0.43576	2.941000	0.99782	0.655000	0.94253	TCT		0.478	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2		NM_004360		51	78	0	0	0	0.01441	0	51	78		
HYDIN	54768	broad.mit.edu	37	16	70917863	70917863	+	Silent	SNP	G	G	A	rs553587582		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr16:70917863G>A	ENST00000393567.2	-	59	10089	c.9939C>T	c.(9937-9939)gcC>gcT	p.A3313A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3313					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A3312A(1)|p.A3264A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGAATGCCGGCAGGGTGGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21989	0.0		0.001	False		,,,				2504	0.0					uc002ezr.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(9934-9936)GCC>GCT		hydrocephalus inducing isoform a							55.0	58.0	57.0					16																	70917863		1955	4146	6101	SO:0001819	synonymous_variant	54768							g.chr16:70917863G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9939C>T	16.37:g.70917863G>A							p.A3312A	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			59	10064	-		Ovarian(137;0.0654)	3313					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.9936C>T	CCDS59269.1																																																																																				0.522	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				13	59	0	0	0	0.016723	0	13	59		
KRT32	3882	broad.mit.edu	37	17	39623211	39623211	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:39623211C>T	ENST00000225899.3	-	1	470	c.367G>A	c.(367-369)Gag>Aag	p.E123K	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	123	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E123K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTCTCCAGCTCCGCATTCTCC	0.572																																						uc002hwr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(367-369)GAG>AAG		keratin 32							105.0	94.0	98.0					17																	39623211		2203	4300	6503	SO:0001583	missense	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39623211C>T	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.367G>A	17.37:g.39623211C>T	ENSP00000225899:p.Glu123Lys						p.E123K	NM_002278	NP_002269	Q14532	K1H2_HUMAN			1	428	-		Breast(137;0.000812)	123			Coil 1A.|Rod.			Missense_Mutation	SNP	ENST00000225899.3	37	c.367G>A	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931459	0.52866	.	.	ENSG00000108759	ENST00000225899	D	0.88509	-2.39	5.23	-10.3	0.00346	Filament (1);	3.668020	0.00706	N	0.000813	D	0.85936	0.5813	L	0.45051	1.395	0.09310	N	1	P	0.37731	0.607	P	0.49421	0.61	T	0.80061	-0.1540	10	0.87932	D	0	.	2.5059	0.04645	0.1802:0.2961:0.0886:0.4352	.	123	Q14532	K1H2_HUMAN	K	123	ENSP00000225899:E123K	ENSP00000225899:E123K	E	-	1	0	KRT32	36876737	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.156000	0.03160	-1.930000	0.01056	-0.379000	0.06801	GAG		0.572	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1		NM_002278		49	148	0	0	0	0.013114	0	49	148		
TLK2	11011	broad.mit.edu	37	17	60673977	60673977	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:60673977G>C	ENST00000326270.9	+	18	1826	c.1558G>C	c.(1558-1560)Gag>Cag	p.E520Q	TLK2_ENST00000346027.5_Missense_Mutation_p.E498Q|TLK2_ENST00000542523.1_Missense_Mutation_p.E466Q|TLK2_ENST00000582809.1_Missense_Mutation_p.E349Q|TLK2_ENST00000343388.7_Missense_Mutation_p.E466Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	520	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E498Q(1)|p.E520Q(1)|p.E497Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GATTCATAAAGAGCTGGATCA	0.373																																						uc010ddp.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	stomach(1)|kidney(1)	2						c.(1558-1560)GAG>CAG		tousled-like kinase 2 isoform A							212.0	183.0	193.0					17																	60673977		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60673977G>C	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1558G>C	17.37:g.60673977G>C	ENSP00000316512:p.Glu520Gln					TLK2_uc002izx.3_Missense_Mutation_p.E346Q|TLK2_uc002izz.3_Missense_Mutation_p.E498Q|TLK2_uc002jaa.3_Missense_Mutation_p.E466Q|TLK2_uc010wpd.1_Missense_Mutation_p.E466Q	p.E520Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			18	1826	+			520			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.1558G>C		.	.	.	.	.	.	.	.	.	.	G	15.87	2.961035	0.53400	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.46	5.46	0.80206	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	T	0.46308	0.1386	N	0.04669	-0.19	0.80722	D	1	B;B;B;B	0.27068	0.167;0.009;0.017;0.005	B;B;B;B	0.35278	0.199;0.012;0.012;0.038	T	0.43097	-0.9412	10	0.23891	T	0.37	.	18.3035	0.90172	0.0:0.0:1.0:0.0	.	520;466;498;498	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Q	498;466;520;466	ENSP00000275780:E498Q;ENSP00000340800:E466Q;ENSP00000316512:E520Q;ENSP00000442311:E466Q	ENSP00000316512:E520Q	E	+	1	0	TLK2	58027709	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.864000	0.99589	2.559000	0.86315	0.655000	0.94253	GAG		0.373	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1		NM_006852		40	118	0	0	0	0.009718	0	40	118		
ARHGAP28	79822	broad.mit.edu	37	18	6876136	6876136	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:6876136G>C	ENST00000383472.4	+	10	1323	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.E407Q|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.E230Q|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.E355Q|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.E243Q|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.E248Q|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.E248Q|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.E248Q|RP11-146G7.2_ENST00000583659.1_RNA			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	407	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.E407Q(1)|p.E248Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTAGTTTTTTGAGAAAGTTGA	0.338																																						uc010wzi.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(1)	1						c.(688-690)GAG>CAG		SubName: Full=Putative uncharacterized protein ARHGAP28;							129.0	123.0	125.0					18																	6876136		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6876136G>C	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1219G>C	18.37:g.6876136G>C	ENSP00000372964:p.Glu407Gln					ARHGAP28_uc002knc.2_Missense_Mutation_p.E355Q|ARHGAP28_uc002knd.2_Missense_Mutation_p.E248Q|ARHGAP28_uc002kne.2_Missense_Mutation_p.E248Q|ARHGAP28_uc002knf.2_Missense_Mutation_p.E239Q	p.E230Q			B4DXL2	B4DXL2_HUMAN			9	926	+		Colorectal(10;0.168)	230					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.688G>C		.	.	.	.	.	.	.	.	.	.	G	12.36	1.913674	0.33815	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.74	2.66	0.31614	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.610154	0.18743	N	0.132412	T	0.12902	0.0313	N	0.12443	0.215	0.22266	N	0.99924	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.14023	0.003;0.01;0.004;0.008	T	0.19063	-1.0317	10	0.25106	T	0.35	.	15.6566	0.77140	0.0:0.6325:0.3675:0.0	.	407;239;248;355	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	Q	407;355;248;243;248;248;239;230	ENSP00000382963:E407Q;ENSP00000262227:E355Q;ENSP00000392660:E248Q;ENSP00000437262:E243Q;ENSP00000313506:E248Q;ENSP00000406907:E248Q	ENSP00000262227:E355Q	E	+	1	0	ARHGAP28	6866136	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.171000	0.42453	0.857000	0.35407	0.561000	0.74099	GAG		0.338	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3		XM_371108		9	96	0	0	0	0.006214	0	9	96		
DSC3	1825	broad.mit.edu	37	18	28576944	28576944	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:28576944G>C	ENST00000360428.4	-	15	2386	c.2306C>G	c.(2305-2307)tCa>tGa	p.S769*	DSC3_ENST00000434452.1_Nonsense_Mutation_p.S769*	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	769					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.S769*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTTCATTCCTGATCCCATAGT	0.433																																						uc002kwj.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(2)|skin(2)	4						c.(2305-2307)TCA>TGA		desmocollin 3 isoform Dsc3a preproprotein							98.0	83.0	88.0					18																	28576944		2203	4300	6503	SO:0001587	stop_gained	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28576944G>C	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2306C>G	18.37:g.28576944G>C	ENSP00000353608:p.Ser769*					DSC3_uc002kwi.3_Nonsense_Mutation_p.S769*	p.S769*	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		15	2461	-			769			Cytoplasmic (Potential).		A6NN35|Q14200|Q9HAZ9	Nonsense_Mutation	SNP	ENST00000360428.4	37	c.2306C>G	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141889	0.37825	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	.	.	.	4.64	4.64	0.57946	.	0.728863	0.10637	N	0.651545	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.4826	0.38911	0.0:0.1309:0.6168:0.2523	.	.	.	.	X	769	.	ENSP00000353608:S769X	S	-	2	0	DSC3	26830942	0.995000	0.38212	0.996000	0.52242	0.296000	0.27459	1.532000	0.36029	2.552000	0.86080	0.655000	0.94253	TCA		0.433	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1		NM_001941, NM_024423		22	64	0	0	0	0.012319	0	22	64		
DCC	1630	broad.mit.edu	37	18	50450132	50450132	+	Silent	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:50450132C>A	ENST00000442544.2	+	4	1369	c.753C>A	c.(751-753)gcC>gcA	p.A251A	DCC_ENST00000412726.1_Silent_p.A99A	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	251	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.A251A(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTAGTAGCCATTGAAGGAA	0.418																																						uc002lfe.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(751-753)GCC>GCA		netrin receptor DCC precursor							143.0	116.0	125.0					18																	50450132		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50450132C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.753C>A	18.37:g.50450132C>A						DCC_uc010xdr.1_Silent_p.A99A	p.A251A	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1340	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	251			Extracellular (Potential).|Ig-like C2-type 3.			Silent	SNP	ENST00000442544.2	37	c.753C>A	CCDS11952.1																																																																																				0.418	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215		35	53	1	0	1.08052e-11	0.019004	1.19566e-11	35	53		
DCC	1630	broad.mit.edu	37	18	51013172	51013172	+	Missense_Mutation	SNP	G	G	A	rs201242417		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr18:51013172G>A	ENST00000442544.2	+	26	4358	c.3742G>A	c.(3742-3744)Gtg>Atg	p.V1248M	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.V883M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1248					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.V1248M(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488																																						uc002lfe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3742-3744)GTG>ATG		netrin receptor DCC precursor							96.0	88.0	90.0					18																	51013172		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013172G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3742G>A	18.37:g.51013172G>A	ENSP00000389140:p.Val1248Met					DCC_uc010dpf.1_Missense_Mutation_p.V883M	p.V1248M	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4329	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1248			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3742G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797157	0.31777	.	.	ENSG00000187323	ENST00000442544	T	0.52526	0.66	5.34	5.34	0.76211	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000014	T	0.65626	0.2709	L	0.56769	1.78	0.54753	D	0.999983	D	0.76494	0.999	D	0.75484	0.986	T	0.63242	-0.6681	10	0.39692	T	0.17	-6.2316	17.8261	0.88666	0.0:0.0:1.0:0.0	.	1248	P43146	DCC_HUMAN	M	1248	ENSP00000389140:V1248M	ENSP00000389140:V1248M	V	+	1	0	DCC	49267170	1.000000	0.71417	0.962000	0.40283	0.522000	0.34438	8.174000	0.89682	2.499000	0.84300	0.462000	0.41574	GTG		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215		67	94	0	0	0	0.01441	0	67	94		
MFSD12	126321	broad.mit.edu	37	19	3550991	3550991	+	Missense_Mutation	SNP	G	G	A	rs372325734		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:3550991G>A	ENST00000355415.2	-	2	669	c.500C>T	c.(499-501)aCg>aTg	p.T167M	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Missense_Mutation_p.T167M|MFSD12_ENST00000398558.4_Missense_Mutation_p.T167M|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	167					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.T167M(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCTGAGTGCCGTGAGCTCCAC	0.627																																						uc002lxz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)|pancreas(1)	2						c.(499-501)ACG>ATG		hypothetical protein LOC126321 isoform c		G	MET/THR,MET/THR,MET/THR	0,3952		0,0,1976	16.0	18.0	18.0		500,500,500	5.1	0.9	19		18	1,8279		0,1,4139	no	missense,missense,missense	C19orf28	NM_001042680.1,NM_021731.2,NM_174983.3	81,81,81	0,1,6115	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging	167/474,167/539,167/481	3550991	1,12231	1976	4140	6116	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3550991G>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.500C>T	19.37:g.3550991G>A	ENSP00000347583:p.Thr167Met					C19orf28_uc002lxw.2_Missense_Mutation_p.T167M|C19orf28_uc002lxx.2_Missense_Mutation_p.T167M|C19orf28_uc002lxy.2_Missense_Mutation_p.T158M	p.T167M	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)	2	670	-		Hepatocellular(1079;0.137)	167					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.500C>T	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593016	0.66219	0.0	1.21E-4	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.80123	-1.34;-1.34;-1.34	5.13	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.978;0.968;0.991	D	0.90962	0.4813	10	0.72032	D	0.01	-19.9997	17.5569	0.87894	0.0:0.0:1.0:0.0	.	167;158;167	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	M	167	ENSP00000374046:T167M;ENSP00000381566:T167M;ENSP00000347583:T167M	ENSP00000347583:T167M	T	-	2	0	C19orf28	3501991	1.000000	0.71417	0.929000	0.37066	0.245000	0.25701	8.909000	0.92647	2.393000	0.81446	0.462000	0.41574	ACG		0.627	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2		NM_174983		23	15	0	0	0	0.014323	0	23	15		
CCL25	6370	broad.mit.edu	37	19	8122718	8122718	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:8122718G>C	ENST00000390669.3	+	4	409	c.359G>C	c.(358-360)gGa>gCa	p.G120A	CCL25_ENST00000253451.4_Missense_Mutation_p.G119A|CCL25_ENST00000315626.4_Missense_Mutation_p.W75C			O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	120					cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|hormone activity (GO:0005179)	p.G120A(1)		NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ttgagttctggaaactccaag	0.468																																						uc002mjd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(358-360)GGA>GCA		small inducible cytokine A25 precursor							116.0	108.0	110.0					19																	8122718		1961	4147	6108	SO:0001583	missense	6370				chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity	g.chr19:8122718G>C	U86358	CCDS12194.1, CCDS56080.1	19p13.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000131142	ENSG00000131142		"""Chemokine ligands"", ""Endogenous ligands"""	10624	protein-coding gene	gene with protein product	"""Ck beta-15"", ""thymus expressed chemokine"", ""TECKvar"""	602565	"""small inducible cytokine subfamily A (Cys-Cys), member 25"""	SCYA25		9285413, 9722960	Standard	NM_005624		Approved	TECK, Ckb15	uc002mjd.3	O15444	OTTHUMG00000141287	ENST00000390669.3:c.359G>C	19.37:g.8122718G>C	ENSP00000375086:p.Gly120Ala					CCL25_uc002mjc.3_Missense_Mutation_p.G119A|CCL25_uc010dvy.1_Missense_Mutation_p.W75C	p.G120A	NM_005624	NP_005615	O15444	CCL25_HUMAN			4	359	+			120					A1L4J4|A6NI52|A8K9E7|B5MCA5|Q96KJ7	Missense_Mutation	SNP	ENST00000390669.3	37	c.359G>C	CCDS12194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.008|0.008	-1.898955|-1.898955	0.00517|0.00517	.|.	.|.	ENSG00000131142|ENSG00000131142	ENST00000253451;ENST00000390669|ENST00000315626	T;T|T	0.26373|0.52057	2.2;1.74|0.68	0.996|0.996	-0.131|-0.131	0.13494|0.13494	Chemokine interleukin-8-like domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.31009|0.31009	0.0783|0.0783	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.02656	0.0;0.0|0.0	B;B|B	0.01281|0.01281	0.0;0.0|0.0	T|T	0.21280|0.21280	-1.0250|-1.0250	9|9	0.52906|0.87932	T|D	0.07|0	2.377|2.377	7.2274|7.2274	0.26022|0.26022	0.0:0.2784:0.7216:0.0|0.0:0.2784:0.7216:0.0	.|.	120;119|75	O15444;A6NI52|C9JDZ7	CCL25_HUMAN;.|.	A|C	119;120|75	ENSP00000253451:G119A;ENSP00000375086:G120A|ENSP00000324756:W75C	ENSP00000253451:G119A|ENSP00000324756:W75C	G|W	+|+	2|3	0|0	CCL25|CCL25	8028718|8028718	0.064000|0.064000	0.20934|0.20934	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	0.151000|0.151000	0.16283|0.16283	-0.491000|-0.491000	0.06697|0.06697	-2.270000|-2.270000	0.00275|0.00275	GGA|TGG		0.468	CCL25-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280522.1		NM_005624		17	68	0	0	0	0.009535	0	17	68		
ZNF714	148206	broad.mit.edu	37	19	21300901	21300901	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:21300901G>A	ENST00000596143.1	+	5	1756	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	477					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.E477E(1)|p.E582E(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ATACTGGAGAGAAATCTTACA	0.388																																						uc002npo.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(1432-1434)GAG>GAA		zinc finger protein 714							57.0	63.0	61.0					19																	21300901		2202	4300	6502	SO:0001819	synonymous_variant	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300901G>A	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1431G>A	19.37:g.21300901G>A						ZNF714_uc002npl.2_Silent_p.E323E|ZNF714_uc010ecp.1_Silent_p.E429E|ZNF714_uc002npn.2_RNA	p.E478E	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			6	1794	+			478					Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	c.1434G>A	CCDS54239.1																																																																																				0.388	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1		NM_182515		14	42	0	0	0	0.020292	0	14	42		
NFKBID	84807	broad.mit.edu	37	19	36387690	36387690	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:36387690A>T	ENST00000396901.1	-	6	769	c.196T>A	c.(196-198)Tat>Aat	p.Y66N	NFKBID_ENST00000352614.2_Missense_Mutation_p.Y218N|NFKBID_ENST00000606253.1_Missense_Mutation_p.Y66N|NFKBID_ENST00000585544.1_5'Flank	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	66					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)		p.Y66N(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GCCGCAGCATATGCCGCCCAG	0.632																																						uc002oci.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(196-198)TAT>AAT		nuclear factor of kappa light polypeptide gene							28.0	35.0	33.0					19																	36387690		2078	4222	6300	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36387690A>T	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.196T>A	19.37:g.36387690A>T	ENSP00000380109:p.Tyr66Asn					NFKBID_uc002och.1_5'Flank|NFKBID_uc002ocj.1_Missense_Mutation_p.Y81N	p.Y66N	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN			6	770	-			66			ANK 1.		Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.196T>A	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.845390	0.51164	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.35421	1.31;1.31	5.13	5.13	0.70059	Ankyrin repeat-containing domain (3);	0.198110	0.43260	D	0.000597	T	0.46405	0.1391	L	0.39633	1.23	0.29236	N	0.872936	D;D	0.71674	0.998;0.985	D;D	0.69142	0.962;0.912	T	0.37103	-0.9720	10	0.18710	T	0.47	.	12.8763	0.57991	1.0:0.0:0.0:0.0	.	218;66	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	N	218;66	ENSP00000252985:Y218N;ENSP00000380109:Y66N	ENSP00000252985:Y218N	Y	-	1	0	NFKBID	41079530	0.058000	0.20735	0.035000	0.18076	0.705000	0.40729	2.013000	0.40942	1.930000	0.55929	0.459000	0.35465	TAT		0.632	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3		NM_032721		20	25	0	0	0	0.012319	0	20	25		
FAM98C	147965	broad.mit.edu	37	19	38893808	38893808	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:38893808G>A	ENST00000252530.5	+	1	34	c.15G>A	c.(13-15)aaG>aaA	p.K5K	FAM98C_ENST00000343358.7_Silent_p.K5K|FAM98C_ENST00000588262.1_Silent_p.K5K	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	5								p.K5K(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCGGTGAAGGCGGAAGCGT	0.726																																						uc002oin.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(13-15)AAG>AAA		hypothetical protein LOC147965							13.0	20.0	18.0					19																	38893808		1978	4128	6106	SO:0001819	synonymous_variant	147965							g.chr19:38893808G>A		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.15G>A	19.37:g.38893808G>A						FAM98C_uc002oio.1_Silent_p.K5K|FAM98C_uc010xtz.1_Silent_p.K5K	p.K5K	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	34	+	all_cancers(60;3.95e-06)		5					A6NMW3|Q66K45	Silent	SNP	ENST00000252530.5	37	c.15G>A	CCDS42562.1																																																																																				0.726	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1		NM_174905		4	22	0	0	0	0.021553	0	4	22		
ZNF230	7773	broad.mit.edu	37	19	44514476	44514476	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:44514476C>G	ENST00000429154.2	+	5	513	c.285C>G	c.(283-285)atC>atG	p.I95M		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	95	KRNB.				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.I95M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GCCAGCAAATCTGGGAACAAA	0.468																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(283-285)ATC>ATG		zinc finger protein 230							92.0	82.0	85.0					19																	44514476		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514476C>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.285C>G	19.37:g.44514476C>G	ENSP00000409318:p.Ile95Met						p.I95M	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			5	536	+		Prostate(69;0.0352)	95			KRNB.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.285C>G	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352843	0.41700	.	.	ENSG00000159882	ENST00000429154	T	0.05717	3.4	2.54	-1.55	0.08558	.	.	.	.	.	T	0.10121	0.0248	L	0.49778	1.585	0.09310	N	1	P	0.52577	0.954	P	0.53861	0.736	T	0.22452	-1.0216	9	0.49607	T	0.09	.	4.3145	0.10986	0.0:0.5365:0.1918:0.2717	.	95	Q9UIE0	ZN230_HUMAN	M	95	ENSP00000409318:I95M	ENSP00000409318:I95M	I	+	3	3	ZNF230	49206316	0.011000	0.17503	0.016000	0.15963	0.416000	0.31233	0.653000	0.24902	-0.007000	0.14345	0.195000	0.17529	ATC		0.468	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1				10	62	0	0	0	0.010729	0	10	62		
ZNF211	10520	broad.mit.edu	37	19	58152819	58152819	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:58152819T>C	ENST00000347302.3	+	3	1144	c.965T>C	c.(964-966)tTt>tCt	p.F322S	ZNF211_ENST00000391703.3_Missense_Mutation_p.F261S|ZNF211_ENST00000420680.1_Missense_Mutation_p.F326S|ZNF211_ENST00000299871.5_Missense_Mutation_p.F387S|ZNF211_ENST00000544273.1_Missense_Mutation_p.F334S|ZNF211_ENST00000541801.1_Missense_Mutation_p.F313S|ZNF211_ENST00000254182.7_Missense_Mutation_p.F313S|ZNF211_ENST00000240731.4_Missense_Mutation_p.F335S	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	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.F335S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGAAATCGTTTAGTCAGATA	0.418																																						uc002qpq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(964-966)TTT>TCT		zinc finger protein 211 isoform 2							72.0	72.0	72.0					19																	58152819		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152819T>C	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.965T>C	19.37:g.58152819T>C	ENSP00000339562:p.Phe322Ser					ZNF211_uc010yhb.1_Missense_Mutation_p.F326S|ZNF211_uc002qpp.2_Missense_Mutation_p.F335S|ZNF211_uc002qpr.2_Missense_Mutation_p.F386S|ZNF211_uc002qps.2_Missense_Mutation_p.F387S|ZNF211_uc002qpt.2_Missense_Mutation_p.F334S|ZNF211_uc010yhc.1_Missense_Mutation_p.F334S|ZNF211_uc010yhd.1_Missense_Mutation_p.F261S|ZNF211_uc010yhe.1_Missense_Mutation_p.F313S	p.F322S	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1145	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	322			C2H2-type 4.		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.965T>C	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577197	0.65878	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	3.21	3.21	0.36854	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69566	0.3125	M	0.93016	3.37	0.33485	D	0.588013	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.993;0.999;1.0;1.0	T	0.80801	-0.1220	9	0.87932	D	0	.	10.8822	0.46946	0.0:0.0:0.0:1.0	.	326;334;387;313;322;335	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	S	326;322;313;261;313;387;334;335	ENSP00000399193:F326S;ENSP00000339562:F322S;ENSP00000254182:F313S;ENSP00000375584:F261S;ENSP00000442601:F313S;ENSP00000299871:F387S;ENSP00000441386:F334S;ENSP00000240731:F335S	ENSP00000240731:F335S	F	+	2	0	ZNF211	62844631	0.996000	0.38824	0.016000	0.15963	0.869000	0.49853	3.184000	0.50926	1.479000	0.48272	0.467000	0.42956	TTT		0.418	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1				49	75	0	0	0	0.01441	0	49	75		
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2		NaN																	10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708		7	20	1	0	0.00198382	0.001984	0.00209231	7	20		
CHAC2	494143	broad.mit.edu	37	2	53992709	53992709	+	5'Flank	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:53992709T>C	ENST00000295304.4	+	0	0				ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.M39V|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.M36V|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Start_Codon_SNP_p.M1V|GPR75-ASB3_ENST00000394717.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)									p.M1V(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTAAAATCCATTTGTTTGACC	0.443																																						uc002rxg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(1-3)ATG>GTG		ankyrin repeat and SOCS box-containing protein 3							98.0	91.0	94.0					2																	53992709		2203	4300	6503	SO:0001631	upstream_gene_variant	51130				intracellular signal transduction			g.chr2:53992709T>C	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824		2.37:g.53992709T>C	Exception_encountered					ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Missense_Mutation_p.M39V|ASB3_uc010yoo.1_Missense_Mutation_p.M1V|CHAC2_uc002rxk.1_5'Flank|uc002rxj.1_5'Flank	p.M1V	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	136	-			1					Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	c.1A>G	CCDS33196.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162648	0.57368	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000352846;ENST00000446049	T;T;T	0.69435	-0.4;-0.23;-0.27	5.36	5.36	0.76844	.	0.083730	0.85682	D	0.000000	T	0.80894	0.4711	.	.	.	0.34570	D	0.713325	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.76071	0.986;0.982;0.987	T	0.82975	-0.0190	7	.	.	.	-7.3093	15.1778	0.72927	0.0:0.0:0.0:1.0	.	1;36;1	B4DZX6;Q2TAI4;Q9Y575	.;.;ASB3_HUMAN	V	1;36;39;1	ENSP00000263634:M1V;ENSP00000385085:M36V;ENSP00000313756:M39V	.	M	-	1	0	ASB3	53846213	1.000000	0.71417	0.983000	0.44433	0.556000	0.35491	5.604000	0.67626	2.239000	0.73571	0.533000	0.62120	ATG		0.443	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1		NM_001008708		16	107	0	0	0	0.00499	0	16	107		
C2orf78	388960	broad.mit.edu	37	2	74043846	74043846	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:74043846G>T	ENST00000409561.1	+	3	2617	c.2496G>T	c.(2494-2496)gtG>gtT	p.V832V		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	832								p.V802V(1)|p.V832V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCACTGCTGTGACCAGTCTCC	0.527																																						uc002sjr.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)	2						c.(2494-2496)GTG>GTT		hypothetical protein LOC388960							91.0	88.0	89.0					2																	74043846		1957	4143	6100	SO:0001819	synonymous_variant	388960							g.chr2:74043846G>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2496G>T	2.37:g.74043846G>T							p.V832V	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	2617	+			832						Silent	SNP	ENST00000409561.1	37	c.2496G>T	CCDS46338.1																																																																																				0.527	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1		NM_001080474		9	69	1	0	0.000442599	0.006214	0.000474214	9	69		
TTN	7273	broad.mit.edu	37	2	179597433	179597433	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:179597433A>G	ENST00000591111.1	-	54	15628	c.15404T>C	c.(15403-15405)tTt>tCt	p.F5135S	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.F5452S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F4208S			Q8WZ42	TITIN_HUMAN	titin	12503	Ig-like 32.				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.F4208S(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)			TTTAGTTACAAAACTGGGTGG	0.403																																						uc010zfg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(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.(12622-12624)TTT>TCT		titin isoform N2-A							44.0	43.0	43.0					2																	179597433		1836	4091	5927	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597433A>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.15404T>C	2.37:g.179597433A>G	ENSP00000465570:p.Phe5135Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F869S	p.F4208S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		53	12847	-			5135					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.12623T>C		.	.	.	.	.	.	.	.	.	.	A	14.24	2.477094	0.44044	.	.	ENSG00000155657	ENST00000342992	T	0.72942	-0.7	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89781	0.6814	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93006	0.6427	9	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	5135	Q8WZ42	TITIN_HUMAN	S	4208	ENSP00000343764:F4208S	ENSP00000343764:F4208S	F	-	2	0	TTN	179305678	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	TTT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		11	13	0	0	0	0.008291	0	11	13		
COL4A4	1286	broad.mit.edu	37	2	227953429	227953429	+	Silent	SNP	G	G	T	rs370486680		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:227953429G>T	ENST00000396625.3	-	22	1770	c.1563C>A	c.(1561-1563)ggC>ggA	p.G521G	COL4A4_ENST00000329662.7_Silent_p.G521G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	521	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G521G(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCCAAGCCAGCCAGGGAGCC	0.587																																						uc010zlt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(1561-1563)GGC>GGA		alpha 4 type IV collagen precursor							74.0	75.0	75.0					2																	227953429		1881	4117	5998	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227953429G>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1563C>A	2.37:g.227953429G>T							p.G521G	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	22	2217	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	521			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.1563C>A	CCDS42828.1																																																																																				0.587	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1		NM_000092		111	71	1	0	9.4957e-49	0.01441	1.15488e-48	111	71		
LZTS3	9762	broad.mit.edu	37	20	3147630	3147630	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:3147630C>T	ENST00000329152.3	-	1	1577	c.180G>A	c.(178-180)ggG>ggA	p.G60G	LZTS3_ENST00000337576.5_Silent_p.G60G|LZTS3_ENST00000360342.3_Silent_p.G60G			O60299	LZTS3_HUMAN		60	Poly-Gly.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.G60G(1)									TGCCCCCACCCCCTGTGCGGG	0.716																																						uc002wia.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(178-180)GGG>GGA		ProSAPiP1 protein							16.0	17.0	17.0					20																	3147630		2198	4294	6492	SO:0001819	synonymous_variant	9762					cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr20:3147630C>T																												ENST00000329152.3:c.180G>A	20.37:g.3147630C>T						ProSAPiP1_uc002wib.1_Silent_p.G60G	p.G60G	NM_014731	NP_055546	O60299	PRIP1_HUMAN			1	1578	-			60			Poly-Gly.		A2A2Q7|D3DVX6|Q8IXX8	Silent	SNP	ENST00000329152.3	37	c.180G>A	CCDS13049.1																																																																																				0.716	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2				11	19	0	0	0	0.010729	0	11	19		
CD93	22918	broad.mit.edu	37	20	23066316	23066316	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:23066316C>T	ENST00000246006.4	-	1	661	c.514G>A	c.(514-516)Gga>Aga	p.G172R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	172	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.G172R(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ATGTTACTTCCGGGGGAGCCT	0.652																																						uc002wsv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)	2						c.(514-516)GGA>AGA		CD93 antigen precursor							33.0	40.0	37.0					20																	23066316		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066316C>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.514G>A	20.37:g.23066316C>T	ENSP00000246006:p.Gly172Arg						p.G172R	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	662	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		172			Extracellular (Potential).|C-type lectin.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.514G>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120995	0.37436	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.80909	-1.43	5.52	5.52	0.82312	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.245759	0.28572	N	0.014875	D	0.86368	0.5916	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	P	0.62184	0.899	T	0.80032	-0.1552	10	0.62326	D	0.03	-0.6596	15.295	0.73898	0.0:1.0:0.0:0.0	.	172	Q9NPY3	C1QR1_HUMAN	R	172	ENSP00000246006:G172R	ENSP00000246006:G172R	G	-	1	0	CD93	23014316	0.012000	0.17670	0.007000	0.13788	0.063000	0.16089	3.313000	0.51935	2.748000	0.94277	0.655000	0.94253	GGA		0.652	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2		NM_012072		12	111	0	0	0	0.016723	0	12	111		
EMILIN3	90187	broad.mit.edu	37	20	39992445	39992445	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:39992445A>T	ENST00000332312.3	-	3	539	c.347T>A	c.(346-348)cTc>cAc	p.L116H		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	116	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.L116H(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				ACGCCAGGCGAGGTCTGTCAC	0.617																																						uc002xjy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(346-348)CTC>CAC		elastin microfibril interfacer 3							145.0	107.0	120.0					20																	39992445		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39992445A>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.347T>A	20.37:g.39992445A>T	ENSP00000332806:p.Leu116His						p.L116H	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			3	571	-		Myeloproliferative disorder(115;0.00425)	116			EMI.		Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.347T>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153564	0.78114	.	.	ENSG00000183798	ENST00000332312	T	0.52057	0.68	4.95	4.95	0.65309	EMI domain (2);	0.173015	0.38778	N	0.001574	T	0.72285	0.3441	M	0.89414	3.03	0.47949	D	0.999557	D	0.76494	0.999	D	0.70016	0.967	T	0.78430	-0.2207	9	.	.	.	-5.7657	14.7737	0.69699	1.0:0.0:0.0:0.0	.	116	Q9NT22	EMIL3_HUMAN	H	116	ENSP00000332806:L116H	.	L	-	2	0	EMILIN3	39425859	1.000000	0.71417	0.309000	0.25155	0.812000	0.45895	8.751000	0.91628	2.084000	0.62774	0.374000	0.22700	CTC		0.617	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2		XM_029741		61	136	0	0	0	0.01441	0	61	136		
MMP9	4318	broad.mit.edu	37	20	44640354	44640354	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr20:44640354G>A	ENST00000372330.3	+	6	984	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	322	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R322Q(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	AACTACGACCGGGACAAGCTC	0.627											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xqz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(964-966)CGG>CAG		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						58.0	53.0	55.0					20																	44640354		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44640354G>A		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.965G>A	20.37:g.44640354G>A	ENSP00000361405:p.Arg322Gln		OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.R322Q	NM_004994	NP_004985	P14780	MMP9_HUMAN			6	984	+		Myeloproliferative disorder(115;0.0122)	322			Fibronectin type-II 2.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.965G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	3.657	-0.070272	0.07228	.	.	ENSG00000100985	ENST00000372330	T	0.48201	0.82	4.3	3.2	0.36748	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.408983	0.27700	N	0.018205	T	0.14787	0.0357	N	0.01003	-1.06	0.21256	N	0.999747	B	0.06786	0.001	B	0.04013	0.001	T	0.31308	-0.9948	10	0.02654	T	1	.	9.4449	0.38690	0.9147:0.0:0.0853:0.0	.	322	P14780	MMP9_HUMAN	Q	322	ENSP00000361405:R322Q	ENSP00000361405:R322Q	R	+	2	0	MMP9	44073761	0.993000	0.37304	1.000000	0.80357	0.528000	0.34623	1.100000	0.31025	0.791000	0.33826	-0.415000	0.06103	CGG		0.627	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1				5	28	0	0	0	0.006214	0	5	28		
SON	6651	broad.mit.edu	37	21	34926719	34926719	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr21:34926719A>G	ENST00000356577.4	+	3	5657	c.5182A>G	c.(5182-5184)Att>Gtt	p.I1728V	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.I1728V|SON_ENST00000300278.4_Missense_Mutation_p.I1728V|SON_ENST00000290239.6_Missense_Mutation_p.I1728V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1728					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I1728V(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TATTGAGGATATTAATGAAGC	0.433																																						uc002yse.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|skin(2)	6						c.(5182-5184)ATT>GTT		SON DNA-binding protein isoform F							127.0	123.0	124.0					21																	34926719		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34926719A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5182A>G	21.37:g.34926719A>G	ENSP00000348984:p.Ile1728Val					SON_uc002ysb.1_Missense_Mutation_p.I1728V|SON_uc002ysc.2_Missense_Mutation_p.I1728V|SON_uc002ysd.2_Missense_Mutation_p.I719V|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.I719V	p.I1728V	NM_138927	NP_620305	P18583	SON_HUMAN			3	5231	+			1728					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5182A>G	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.14|10.14	1.268010|1.268010	0.23136|0.23136	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.14022	.|2.77;2.75;2.73;2.54	5.58|5.58	3.23|3.23	0.37069|0.37069	.|.	0.116529|0.116529	0.38959|0.38959	N|N	0.001520|0.001520	T|T	0.21509|0.21509	0.0518|0.0518	L|L	0.50333|0.50333	1.59|1.59	0.23416|0.23416	N|N	0.99772|0.99772	.|B;B;B;B;D	.|0.58620	.|0.102;0.062;0.102;0.102;0.983	.|B;B;B;B;P	.|0.57502	.|0.08;0.036;0.08;0.08;0.822	T|T	0.01863|0.01863	-1.1258|-1.1258	6|10	.|0.62326	.|D	.|0.03	.|.	7.3308|7.3308	0.26582|0.26582	0.7129:0.1537:0.0:0.1334|0.7129:0.1537:0.0:0.1334	.|.	.|1728;1728;1409;1728;1728	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	M|V	722|1728	.|ENSP00000348984:I1728V;ENSP00000290239:I1728V;ENSP00000300278:I1728V;ENSP00000371095:I1728V	.|ENSP00000290239:I1728V	I|I	+|+	3|1	3|0	SON|SON	33848589|33848589	0.925000|0.925000	0.31364|0.31364	0.997000|0.997000	0.53966|0.53966	0.837000|0.837000	0.47467|0.47467	1.191000|1.191000	0.32138|0.32138	2.127000|2.127000	0.65507|0.65507	0.482000|0.482000	0.46254|0.46254	ATA|ATT		0.433	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2		NM_138927		78	150	0	0	0	0.01441	0	78	150		
PCNT	5116	broad.mit.edu	37	21	47783573	47783573	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr21:47783573C>G	ENST00000359568.5	+	14	2440	c.2333C>G	c.(2332-2334)gCt>gGt	p.A778G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	778	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.A778G(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAGAAAAGGCTGAATCCGAG	0.463																																						uc002zji.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(2332-2334)GCT>GGT		pericentrin							111.0	111.0	111.0					21																	47783573		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783573C>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2333C>G	21.37:g.47783573C>G	ENSP00000352572:p.Ala778Gly					PCNT_uc002zjj.2_Missense_Mutation_p.A660G	p.A778G	NM_006031	NP_006022	O95613	PCNT_HUMAN			14	2440	+	Breast(49;0.112)		778			Glu-rich.|Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2333C>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830432	0.32329	.	.	ENSG00000160299	ENST00000359568	T	0.26957	1.7	5.02	4.13	0.48395	.	0.000000	0.32785	N	0.005660	T	0.35128	0.0921	L	0.52573	1.65	0.09310	N	1	D;D	0.67145	0.996;0.988	P;P	0.57009	0.811;0.76	T	0.09818	-1.0657	10	0.46703	T	0.11	.	9.243	0.37509	0.0:0.826:0.0:0.174	.	660;778	O95613-2;O95613	.;PCNT_HUMAN	G	778	ENSP00000352572:A778G	ENSP00000352572:A778G	A	+	2	0	PCNT	46608001	0.922000	0.31269	0.037000	0.18230	0.011000	0.07611	1.733000	0.38156	1.128000	0.42052	0.585000	0.79938	GCT		0.463	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		15	149	0	0	0	0.024245	0	15	149		
POTEH	23784	broad.mit.edu	37	22	16279260	16279260	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:16279260T>C	ENST00000343518.6	-	4	1014	c.963A>G	c.(961-963)aaA>aaG	p.K321K	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	321								p.K321K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCACTTGCTGTTTTTGCTCAT	0.323																																						uc010gqp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(961-963)AAA>AAG		ANKRD26-like family C, member 3																																				SO:0001819	synonymous_variant	23784							g.chr22:16279260T>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.963A>G	22.37:g.16279260T>C						POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Silent_p.K40K|POTEH_uc002zlj.1_Silent_p.K156K	p.K321K	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			4	1015	-			321			ANK 5.		A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.963A>G	CCDS46658.1																																																																																				0.323	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4		NM_001136213		32	446	0	0	0	0.015359	0	32	446		
SLC5A4	6527	broad.mit.edu	37	22	32647856	32647856	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:32647856G>A	ENST00000266086.4	-	3	224	c.213C>T	c.(211-213)ggC>ggT	p.G71G	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	71					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.G71G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGAGAGAGGCGCCCATCTGGA	0.517																																						uc003ami.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(211-213)GGC>GGT		solute carrier family 5 (low affinity glucose							82.0	82.0	82.0					22																	32647856		2203	4300	6503	SO:0001819	synonymous_variant	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32647856G>A	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.213C>T	22.37:g.32647856G>A							p.G71G	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			3	215	-			71			Helical; (Potential).		O15279	Silent	SNP	ENST00000266086.4	37	c.213C>T	CCDS13903.1																																																																																				0.517	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1		NM_014227		44	35	0	0	0	0.01441	0	44	35		
FBLN2	2199	broad.mit.edu	37	3	13669333	13669333	+	Splice_Site	SNP	C	C	T	rs201160150	byFrequency	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:13669333C>T	ENST00000295760.7	+	10	2361	c.2292C>T	c.(2290-2292)gaC>gaT	p.D764D	FBLN2_ENST00000404922.3_Splice_Site_p.D811D|FBLN2_ENST00000492059.1_Splice_Site_p.D811D|FBLN2_ENST00000535798.1_Splice_Site_p.D790D	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	764	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.D230D(1)|p.D811D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCTGCAGACGTGGATGAGT	0.652													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18622	0.0		0.001	False		,,,				2504	0.0					uc011avb.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(2290-2292)GAC>GAT		fibulin 2 isoform b precursor		C	,,	2,4116		0,2,2057	21.0	24.0	23.0		2433,2433,2292	-7.9	0.7	3		23	28,8356		0,28,4164	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	,,	0,30,6221	TT,TC,CC		0.334,0.0486,0.24	,,	811/1232,811/1232,764/1185	13669333	30,12472	2059	4192	6251	SO:0001630	splice_region_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13669333C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2291-1C>T	3.37:g.13669333C>T						FBLN2_uc011auz.1_Silent_p.D790D|FBLN2_uc011ava.1_Silent_p.D811D|FBLN2_uc011avc.1_Silent_p.D811D	p.D764D	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		10	2417	+			764			EGF-like 4; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.2292C>T	CCDS46762.1																																																																																				0.652	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3		NM_001004019	Silent	12	24	0	0	0	0.016723	0	12	24		
ITGA9	3680	broad.mit.edu	37	3	37826549	37826549	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:37826549G>C	ENST00000264741.5	+	26	3125	c.2869G>C	c.(2869-2871)Ggg>Cgg	p.G957R	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	957					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G957R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AATAGCTCATGGGAACCCAGA	0.562																																						uc003chd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|pancreas(1)|lung(1)|skin(1)	6						c.(2869-2871)GGG>CGG		integrin, alpha 9 precursor							96.0	88.0	91.0					3																	37826549		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37826549G>C	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2869G>C	3.37:g.37826549G>C	ENSP00000264741:p.Gly957Arg						p.G957R	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	26	2922	+			957			Extracellular (Potential).		Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.2869G>C	CCDS2669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.468535|4.468535	0.84533|0.84533	.|.	.|.	ENSG00000144668|ENSG00000144668	ENST00000264741|ENST00000411817	T|.	0.49139|.	0.79|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.048577|.	0.85682|.	D|.	0.000000|.	T|T	0.71846|0.71846	0.3388|0.3388	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B|.	0.34161|.	0.439|.	B|.	0.33521|.	0.165|.	T|T	0.66960|0.66960	-0.5791|-0.5791	10|5	0.22109|.	T|.	0.4|.	.|.	19.061|19.061	0.93093|0.93093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	957|.	Q13797|.	ITA9_HUMAN|.	R|S	957|30	ENSP00000264741:G957R|.	ENSP00000264741:G957R|.	G|W	+|+	1|2	0|0	ITGA9|ITGA9	37801553|37801553	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.862000|0.862000	0.49288|0.49288	8.523000|8.523000	0.90576|0.90576	2.794000|2.794000	0.96219|0.96219	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.562	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1		NM_002207		21	67	0	0	0	0.014323	0	21	67		
PLXNB1	5364	broad.mit.edu	37	3	48453976	48453976	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:48453976G>A	ENST00000358536.4	-	26	5177	c.4908C>T	c.(4906-4908)taC>taT	p.Y1636Y	PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Silent_p.Y1453Y|PLXNB1_ENST00000448774.2_Silent_p.Y247Y|PLXNB1_ENST00000456774.1_Silent_p.Y1453Y|PLXNB1_ENST00000296440.6_Silent_p.Y1636Y	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1636					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.Y1636Y(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGATGCCACGTAGGCACGGT	0.572																																						uc003csw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(4906-4908)TAC>TAT		plexin B1 precursor							60.0	58.0	59.0					3																	48453976		2203	4300	6503	SO:0001819	synonymous_variant	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48453976G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4908C>T	3.37:g.48453976G>A						PLXNB1_uc003cst.2_Silent_p.Y86Y|PLXNB1_uc003csu.2_Silent_p.Y1453Y|PLXNB1_uc003csx.2_Silent_p.Y1636Y	p.Y1636Y	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	26	5178	-			1636			Cytoplasmic (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	c.4908C>T	CCDS2765.1																																																																																				0.572	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1		NM_002673		18	58	0	0	0	0.00499	0	18	58		
COL7A1	1294	broad.mit.edu	37	3	48605196	48605196	+	Splice_Site	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:48605196C>A	ENST00000328333.8	-	107	8037	c.7930G>T	c.(7930-7932)Gga>Tga	p.G2644*	COL7A1_ENST00000454817.1_Splice_Site_p.G2612*|COL7A1_ENST00000470076.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2644	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2644*(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGCTTCTCCCTGCAGGCAT	0.672																																						uc003ctz.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(7930-7932)GGA>TGA		alpha 1 type VII collagen precursor							95.0	105.0	102.0					3																	48605196		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48605196C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7930-1G>T	3.37:g.48605196C>A							p.G2644*	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	107	7931	-			2644			Triple-helical region.		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.7930G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	48	14.562426	0.99801	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	4.87	4.87	0.63330	.	0.000000	0.41194	D	0.000935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2269	0.82300	0.0:1.0:0.0:0.0	.	.	.	.	X	2644;2612	.	ENSP00000332371:G2644X	G	-	1	0	COL7A1	48580200	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	6.015000	0.70791	2.258000	0.74832	0.563000	0.77884	GGA		0.672	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094	Nonsense_Mutation	54	139	1	0	5.99346e-17	0.01441	6.85692e-17	54	139		
LRIG1	26018	broad.mit.edu	37	3	66430809	66430809	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:66430809A>G	ENST00000273261.3	-	19	3684	c.3160T>C	c.(3160-3162)Tac>Cac	p.Y1054H	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.Y1031H	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	1054					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.Y1054H(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACAAGCAAGTACTGGGCTTCC	0.567																																						uc003dmx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)	5						c.(3160-3162)TAC>CAC		leucine-rich repeats and immunoglobulin-like							114.0	113.0	114.0					3																	66430809		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66430809A>G	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.3160T>C	3.37:g.66430809A>G	ENSP00000273261:p.Tyr1054His					SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.Y674H|LRIG1_uc003dmw.2_Missense_Mutation_p.Y720H|LRIG1_uc010hnz.2_Missense_Mutation_p.Y770H|LRIG1_uc010hoa.2_Missense_Mutation_p.Y1031H	p.Y1054H	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	19	3174	-		Lung NSC(201;0.0101)	1054			Cytoplasmic (Potential).		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.3160T>C	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.652057	0.00785	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.62364	0.03;0.1	5.54	1.56	0.23342	.	0.582853	0.16439	N	0.214381	T	0.20170	0.0485	N	0.00347	-1.61	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	0.35251	-0.9796	10	0.06099	T	0.92	.	8.1489	0.31128	0.2016:0.1155:0.6829:0.0	.	1031;1054;1054	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	H	1054;1031;957	ENSP00000273261:Y1054H;ENSP00000373208:Y1031H	ENSP00000273261:Y1054H	Y	-	1	0	LRIG1	66513499	1.000000	0.71417	0.998000	0.56505	0.033000	0.12548	2.975000	0.49281	0.708000	0.31955	-0.132000	0.14878	TAC		0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1		NM_015541		38	131	0	0	0	0.025465	0	38	131		
GPR128	84873	broad.mit.edu	37	3	100364943	100364943	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:100364943T>C	ENST00000273352.3	+	9	1369	c.1101T>C	c.(1099-1101)ttT>ttC	p.F367F	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Silent_p.F72F	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	367					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.F367F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACATGGTCTTTAGTCCAAAGG	0.378																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(1099-1101)TTT>TTC		G protein-coupled receptor 128 precursor							75.0	74.0	74.0					3																	100364943		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100364943T>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1101T>C	3.37:g.100364943T>C						GPR128_uc011bhc.1_Silent_p.F68F	p.F367F	NM_032787	NP_116176	Q96K78	GP128_HUMAN			9	1369	+			367			Extracellular (Potential).		Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.1101T>C	CCDS2938.1																																																																																				0.378	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1				29	51	0	0	0	0.012213	0	29	51		
STXBP5L	9515	broad.mit.edu	37	3	120973778	120973778	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:120973778A>T	ENST00000273666.6	+	16	1749	c.1478A>T	c.(1477-1479)aAa>aTa	p.K493I	STXBP5L_ENST00000472879.1_Missense_Mutation_p.K493I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.K493I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.K493I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.K493I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	493					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K493I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAACTTCAAAAGTGTTTGAA	0.348																																						uc003eec.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|skin(2)	9						c.(1477-1479)AAA>ATA		syntaxin binding protein 5-like							80.0	75.0	76.0					3																	120973778		1835	4105	5940	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120973778A>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1478A>T	3.37:g.120973778A>T	ENSP00000273666:p.Lys493Ile					STXBP5L_uc011bji.1_Missense_Mutation_p.K493I	p.K493I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	16	1618	+			493					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1478A>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.646200	0.87958	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	M	0.82193	2.58	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.62426	-0.6857	10	0.44086	T	0.13	-32.1534	15.5207	0.75862	1.0:0.0:0.0:0.0	.	493;493	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	493	ENSP00000273666:K493I;ENSP00000420019:K493I;ENSP00000419627:K493I;ENSP00000420287:K493I;ENSP00000420666:K493I;ENSP00000420167:K493I	ENSP00000273666:K493I	K	+	2	0	STXBP5L	122456468	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.862000	0.92283	2.065000	0.61736	0.533000	0.62120	AAA		0.348	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3				11	21	0	0	0	0.013537	0	11	21		
ACPP	55	broad.mit.edu	37	3	132050577	132050577	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:132050577G>A	ENST00000336375.5	+	3	393	c.303G>A	c.(301-303)caG>caA	p.Q101Q	ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Splice_Site_p.Q101Q|ACPP_ENST00000475741.1_Splice_Site_p.Q101Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	101					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.Q101Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						AACATGAACAGGCAAGTTGGG	0.348																																						uc010htp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(301-303)CAG>CAA		acid phosphatase, prostate short isoform							44.0	49.0	47.0					3																	132050577		2198	4298	6496	SO:0001630	splice_region_variant	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132050577G>A		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.303+1G>A	3.37:g.132050577G>A						ACPP_uc003eon.3_Silent_p.Q101Q|ACPP_uc003eop.3_Silent_p.Q101Q	p.Q101Q	NM_001099	NP_001090	P15309	PPAP_HUMAN			3	393	+			101					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Silent	SNP	ENST00000336375.5	37	c.303G>A	CCDS3073.1																																																																																				0.348	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2		NM_001099	Silent	8	21	0	0	0	0.004482	0	8	21		
ZNF639	51193	broad.mit.edu	37	3	179050893	179050893	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr3:179050893C>T	ENST00000326361.3	+	6	731	c.286C>T	c.(286-288)Cac>Tac	p.H96Y	ZNF639_ENST00000484866.1_Missense_Mutation_p.H96Y|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.H96Y	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	96					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H96Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			aattctagaccacactgcctT	0.363																																						uc003fjq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(286-288)CAC>TAC		zinc finger protein 639							71.0	64.0	66.0					3																	179050893		2200	4297	6497	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179050893C>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.286C>T	3.37:g.179050893C>T	ENSP00000325634:p.His96Tyr					ZNF639_uc003fjr.1_Missense_Mutation_p.H96Y	p.H96Y	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		5	629	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		96					A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.286C>T	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	2.916	-0.224247	0.06061	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000481587;ENST00000326361;ENST00000466264;ENST00000484866;ENST00000494234	T;T;T;T	0.03553	3.89;3.89;4.49;3.89	5.86	5.86	0.93980	.	0.552462	0.19339	N	0.116687	T	0.03695	0.0105	N	0.24115	0.695	0.25946	N	0.982807	B	0.06786	0.001	B	0.08055	0.003	T	0.44620	-0.9316	10	0.19147	T	0.46	.	16.0536	0.80779	0.0:1.0:0.0:0.0	.	96	Q9UID6	ZN639_HUMAN	Y	96	ENSP00000417740:H96Y;ENSP00000325634:H96Y;ENSP00000419650:H96Y;ENSP00000418766:H96Y	ENSP00000325634:H96Y	H	+	1	0	ZNF639	180533587	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.174000	0.50847	2.937000	0.99478	0.650000	0.86243	CAC		0.363	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1		NM_016331		7	13	0	0	0	0.001984	0	7	13		
SLC4A4	8671	broad.mit.edu	37	4	72399971	72399971	+	Missense_Mutation	SNP	G	G	A	rs150967020		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:72399971G>A	ENST00000264485.5	+	18	2425	c.2308G>A	c.(2308-2310)Gtt>Att	p.V770I	SLC4A4_ENST00000340595.3_Missense_Mutation_p.V726I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.V770I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.V770I	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	770	Interaction with CA4.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.V770I(2)|p.V726I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AGGTTGGTTCGTTCCACCGTT	0.423																																						uc003hfy.2		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|endometrium(2)	ovary(3)|kidney(1)|skin(1)	5						c.(2308-2310)GTT>ATT		solute carrier family 4, sodium bicarbonate							77.0	74.0	75.0					4																	72399971		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72399971G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2308G>A	4.37:g.72399971G>A	ENSP00000264485:p.Val770Ile					SLC4A4_uc010iic.2_Missense_Mutation_p.V770I|SLC4A4_uc010iib.2_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V726I|SLC4A4_uc010iid.2_5'UTR	p.V770I	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		18	2425	+			770			Interaction with CA4.|Extracellular (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.2308G>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	8.256	0.810144	0.16537	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.69	3.06	0.35304	Bicarbonate transporter, C-terminal (1);	0.162294	0.53938	N	0.000048	T	0.55033	0.1895	N	0.17838	0.53	0.52501	D	0.999959	B;P;B;B	0.35774	0.124;0.519;0.208;0.083	B;B;B;B	0.39152	0.104;0.292;0.102;0.104	T	0.51585	-0.8687	10	0.02654	T	1	.	9.5576	0.39348	0.2978:0.0:0.7022:0.0	.	770;770;726;770	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	I	770;770;770;726	ENSP00000264485:V770I;ENSP00000393557:V770I;ENSP00000307349:V770I;ENSP00000344272:V726I	ENSP00000264485:V770I	V	+	1	0	SLC4A4	72618835	1.000000	0.71417	0.907000	0.35723	0.953000	0.61014	3.753000	0.55180	0.348000	0.23949	0.650000	0.86243	GTT		0.423	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1		NM_003759		19	32	0	0	0	0.008871	0	19	32		
INTU	27152	broad.mit.edu	37	4	128632073	128632073	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:128632073C>T	ENST00000335251.6	+	14	2478	c.2375C>T	c.(2374-2376)aCa>aTa	p.T792I		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	792					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.T792I(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTAAGACTGACATCTGGTCCT	0.333																																						uc003ifk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2374-2376)ACA>ATA		PDZ domain containing 6							75.0	72.0	73.0					4																	128632073		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128632073C>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2375C>T	4.37:g.128632073C>T	ENSP00000334003:p.Thr792Ile					INTU_uc011cgq.1_RNA	p.T792I	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			14	2445	+			792					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.2375C>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563337	0.86335	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80582	-0.1318	9	0.87932	D	0	-13.7848	19.6745	0.95926	0.0:1.0:0.0:0.0	.	792	Q9ULD6	PDZD6_HUMAN	I	792	.	ENSP00000334003:T792I	T	+	2	0	INTU	128851523	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.339000	0.79282	2.880000	0.98712	0.650000	0.86243	ACA		0.333	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2		XM_371707		48	30	0	0	0	0.01441	0	48	30		
USP38	84640	broad.mit.edu	37	4	144134859	144134859	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:144134859G>A	ENST00000307017.4	+	9	2236	c.1730G>A	c.(1729-1731)cGt>cAt	p.R577H	USP38_ENST00000510377.1_Missense_Mutation_p.R577H	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	577	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.R577H(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GAGACCCCTCGTACAAGTGAC	0.413																																						uc003ijb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(1729-1731)CGT>CAT		ubiquitin specific peptidase 38							75.0	71.0	73.0					4																	144134859		2203	4300	6503	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144134859G>A	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.1730G>A	4.37:g.144134859G>A	ENSP00000303434:p.Arg577His					USP38_uc003ija.3_Missense_Mutation_p.R577H|USP38_uc003ijc.2_RNA	p.R577H	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			9	2264	+	all_hematologic(180;0.158)		577					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.1730G>A	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	G	0.310	-0.968253	0.02232	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.32023	1.47;1.47	5.83	0.296	0.15757	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.968998	0.08637	N	0.916049	T	0.21186	0.0510	L	0.31420	0.93	0.09310	N	1	B;B	0.22604	0.072;0.072	B;B	0.29598	0.099;0.104	T	0.37776	-0.9691	10	0.23891	T	0.37	-14.2773	5.7552	0.18168	0.3269:0.2432:0.4299:0.0	.	577;577	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	H	577	ENSP00000427647:R577H;ENSP00000303434:R577H	ENSP00000303434:R577H	R	+	2	0	USP38	144354309	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.335000	0.19806	0.066000	0.16515	-0.283000	0.09986	CGT		0.413	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1		NM_032557		7	43	0	0	0	0.00308	0	7	43		
FBXW7	55294	broad.mit.edu	37	4	153253770	153253770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr4:153253770C>T	ENST00000281708.4	-	6	2192	c.963G>A	c.(961-963)tgG>tgA	p.W321*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W241*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W203*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W145*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W321*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W321*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	321	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.W321*(2)|p.W82*(1)|p.W241*(1)|p.?(1)|p.W203*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATTTCTCTCTCCAGAGAAGGT	0.393			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Nonsense(5)|Unknown(1)		urinary_tract(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(961-963)TGG>TGA		F-box and WD repeat domain containing 7 isoform							76.0	77.0	77.0					4																	153253770		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153253770C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.963G>A	4.37:g.153253770C>T	ENSP00000281708:p.Trp321*					FBXW7_uc011cii.1_Nonsense_Mutation_p.W321*|FBXW7_uc003imt.2_Nonsense_Mutation_p.W321*|FBXW7_uc011cih.1_Nonsense_Mutation_p.W145*|FBXW7_uc003imq.2_Nonsense_Mutation_p.W241*|FBXW7_uc003imr.2_Nonsense_Mutation_p.W203*	p.W321*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			6	1112	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	321			F-box.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.963G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	38	6.684100	0.97759	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5675	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	X	321;203;241;145	.	ENSP00000263981:W241X	W	-	3	0	FBXW7	153473220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.878000	0.98634	0.650000	0.86243	TGG		0.393	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				32	19	0	0	0	0.013726	0	32	19		
HCN1	348980	broad.mit.edu	37	5	45303773	45303773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:45303773G>A	ENST00000303230.4	-	6	1603	c.1546C>T	c.(1546-1548)Caa>Taa	p.Q516*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	516					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.Q516*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACACCGTGTTGAATGAAATAC	0.388																																						uc003jok.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1546-1548)CAA>TAA		hyperpolarization activated cyclic							107.0	104.0	105.0					5																	45303773		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303773G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1546C>T	5.37:g.45303773G>A	ENSP00000307342:p.Gln516*						p.Q516*	NM_021072	NP_066550	O60741	HCN1_HUMAN			6	1571	-			516			cAMP.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000303230.4	37	c.1546C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	38	7.113696	0.98074	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	.	.	.	X	516	.	ENSP00000307342:Q516X	Q	-	1	0	HCN1	45339530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.809000	0.96659	0.655000	0.94253	CAA		0.388	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		10	116	0	0	0	0.006214	0	10	116		
MAP1B	4131	broad.mit.edu	37	5	71494957	71494957	+	Silent	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:71494957C>G	ENST00000296755.7	+	5	6073	c.5775C>G	c.(5773-5775)acC>acG	p.T1925T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1925					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.T1925T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTATGAGACCATTGGGAAAA	0.463																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5773-5775)ACC>ACG		microtubule-associated protein 1B							54.0	58.0	57.0					5																	71494957		2201	4300	6501	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494957C>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5775C>G	5.37:g.71494957C>G						MAP1B_uc010iyw.1_Silent_p.T1942T|MAP1B_uc010iyx.1_Silent_p.T1799T|MAP1B_uc010iyy.1_Silent_p.T1799T	p.T1925T	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6016	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1925			MAP1B 3.		A2BDK5	Silent	SNP	ENST00000296755.7	37	c.5775C>G	CCDS4012.1																																																																																				0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6		NM_005909		8	71	0	0	0	0.00308	0	8	71		
KDM3B	51780	broad.mit.edu	37	5	137761206	137761206	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr5:137761206G>T	ENST00000314358.5	+	17	4546	c.4346G>T	c.(4345-4347)aGg>aTg	p.R1449M	KDM3B_ENST00000542866.1_Missense_Mutation_p.R481M|KDM3B_ENST00000394866.1_Missense_Mutation_p.R1105M	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1449					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R1449M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTGAACTGCAGGAACTGTGCT	0.448																																						uc003lcy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(4345-4347)AGG>ATG		jumonji domain containing 1B							144.0	144.0	144.0					5																	137761206		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137761206G>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4346G>T	5.37:g.137761206G>T	ENSP00000326563:p.Arg1449Met					KDM3B_uc010jew.1_Missense_Mutation_p.R1105M|KDM3B_uc011cys.1_Missense_Mutation_p.R481M	p.R1449M	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			17	4546	+			1449					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.4346G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012080	0.75046	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.71461	-0.57;-0.57;-0.57	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	L	0.41961	1.31	0.80722	D	1	D;B	0.76494	0.999;0.222	D;B	0.74348	0.983;0.241	T	0.79271	-0.1872	10	0.44086	T	0.13	-1.5607	18.6718	0.91514	0.0:0.0:1.0:0.0	.	1105;1449	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	M	1449;1239;1105;481	ENSP00000326563:R1449M;ENSP00000378335:R1105M;ENSP00000439462:R481M	ENSP00000326563:R1449M	R	+	2	0	KDM3B	137789105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.403000	0.81681	0.563000	0.77884	AGG		0.448	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		NM_016604		33	111	1	0	1.61788e-16	0.012213	1.83541e-16	33	111		
OR10C1	442194	broad.mit.edu	37	6	29408490	29408490	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr6:29408490G>A	ENST00000444197.2	+	1	1408	c.698G>A	c.(697-699)cGc>cAc	p.R233H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R233H(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTTGCGGGCCGCCGCAAGGCC	0.587																																						uc011dlp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(697-699)CGC>CAC		olfactory receptor, family 10, subfamily C,							230.0	256.0	247.0					6																	29408490		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408490G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.698G>A	6.37:g.29408490G>A	ENSP00000419119:p.Arg233His					OR11A1_uc010jrh.1_Intron	p.R233H	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	698	+			233			Cytoplasmic (Potential).		Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.698G>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304940	0.23736	.	.	ENSG00000206474	ENST00000444197	T	0.00333	8.07	3.49	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001352	T	0.00300	0.0009	M	0.91561	3.22	0.09310	N	0.999999	P	0.51351	0.944	P	0.49528	0.614	T	0.22347	-1.0219	10	0.87932	D	0	.	11.875	0.52541	0.0:0.0:0.8234:0.1766	.	233	Q96KK4	O10C1_HUMAN	H	233	ENSP00000419119:R233H	ENSP00000419119:R233H	R	+	2	0	OR10C1	29516469	0.000000	0.05858	0.142000	0.22268	0.020000	0.10135	0.178000	0.16820	0.693000	0.31634	-0.175000	0.13238	CGC		0.587	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2				32	313	0	0	0	0.017118	0	32	313		
GPR111	222611	broad.mit.edu	37	6	47649716	47649716	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr6:47649716A>T	ENST00000296862.1	+	6	1421	c.1421A>T	c.(1420-1422)cAa>cTa	p.Q474L	GPR111_ENST00000398742.2_Missense_Mutation_p.Q406L|GPR111_ENST00000507065.1_Missense_Mutation_p.Q406L			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	474					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.Q406L(1)|p.Q474L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GTCTGGAGCCAAGTGACAAAG	0.448																																						uc010jzj.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(1420-1422)CAA>CTA		G-protein coupled receptor 111							132.0	121.0	125.0					6																	47649716		2010	4195	6205	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649716A>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1421A>T	6.37:g.47649716A>T	ENSP00000296862:p.Gln474Leu					GPR111_uc010jzk.1_Missense_Mutation_p.Q406L|GPR111_uc003oyy.2_RNA	p.Q474L	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	1422	+			474			Cytoplasmic (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.1421A>T		.	.	.	.	.	.	.	.	.	.	A	5.947	0.358680	0.11239	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.36878	1.99;1.97;1.23	5.52	1.74	0.24563	GPCR, family 2-like (1);	0.429776	0.21982	N	0.066288	T	0.11067	0.0270	L	0.35793	1.09	0.09310	N	1	P;P	0.45634	0.835;0.863	B;P	0.46685	0.302;0.524	T	0.19418	-1.0306	10	0.11485	T	0.65	.	5.5049	0.16848	0.5817:0.274:0.1443:0.0	.	406;474	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	L	406;474;406	ENSP00000422934:Q406L;ENSP00000296862:Q474L;ENSP00000381727:Q406L	ENSP00000296862:Q474L	Q	+	2	0	GPR111	47757675	0.000000	0.05858	0.826000	0.32828	0.010000	0.07245	0.774000	0.26675	0.060000	0.16281	-1.165000	0.01757	CAA		0.448	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2		NM_153839		68	63	0	0	0	0.01441	0	68	63		
AHR	196	broad.mit.edu	37	7	17378759	17378759	+	Missense_Mutation	SNP	G	G	T	rs138430398		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:17378759G>T	ENST00000242057.4	+	10	1953	c.1310G>T	c.(1309-1311)gGa>gTa	p.G437V	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	437					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G437V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GGCACTAGTGGAAAAGACTCT	0.438																																						uc011jxz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(1309-1311)GGA>GTA		aryl hydrocarbon receptor precursor							135.0	124.0	127.0					7																	17378759		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17378759G>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1310G>T	7.37:g.17378759G>T	ENSP00000242057:p.Gly437Val					AHR_uc003stt.3_RNA	p.G437V	NM_001621	NP_001612	P35869	AHR_HUMAN			10	1923	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		437					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1310G>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	7.003	0.555305	0.13436	.	.	ENSG00000106546	ENST00000242057	T	0.05139	3.49	5.24	1.08	0.20341	.	0.859868	0.10237	N	0.698944	T	0.12347	0.0300	M	0.70903	2.155	0.28185	N	0.928012	D	0.59767	0.986	P	0.50490	0.642	T	0.21965	-1.0230	10	0.29301	T	0.29	.	7.571	0.27907	0.2034:0.2459:0.5507:0.0	.	437	P35869	AHR_HUMAN	V	437	ENSP00000242057:G437V	ENSP00000242057:G437V	G	+	2	0	AHR	17345284	0.018000	0.18449	0.000000	0.03702	0.012000	0.07955	0.164000	0.16542	-0.032000	0.13758	-0.797000	0.03246	GGA		0.438	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2		NM_001621		35	65	1	0	3.03874e-20	0.015359	3.53646e-20	35	65		
PDE1C	5137	broad.mit.edu	37	7	31912954	31912954	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:31912954A>G	ENST00000396191.1	-	6	1015	c.560T>C	c.(559-561)tTt>tCt	p.F187S	PDE1C_ENST00000396182.2_Missense_Mutation_p.F187S|PDE1C_ENST00000396193.1_Missense_Mutation_p.F247S|PDE1C_ENST00000396184.3_Missense_Mutation_p.F187S|PDE1C_ENST00000321453.7_Missense_Mutation_p.F187S	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	187					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.F187S(2)|p.F247S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ATAGAAAATAAATTTCAGTGC	0.398																																						uc003tcm.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	skin(3)|central_nervous_system(1)	4						c.(559-561)TTT>TCT		phosphodiesterase 1C							86.0	82.0	84.0					7																	31912954		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31912954A>G	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.560T>C	7.37:g.31912954A>G	ENSP00000379494:p.Phe187Ser					PDE1C_uc003tcn.1_Missense_Mutation_p.F187S|PDE1C_uc003tco.1_Missense_Mutation_p.F247S|PDE1C_uc003tcr.2_Missense_Mutation_p.F187S|PDE1C_uc003tcs.2_Missense_Mutation_p.F187S	p.F187S	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		6	1029	-			187					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.560T>C	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.837457	0.91117	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	5.14	5.14	0.70334	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.83381	0.5242	M	0.70595	2.14	0.80722	D	1	P;D;D	0.63046	0.779;0.992;0.965	P;P;P	0.61477	0.511;0.889;0.549	D	0.85330	0.1089	10	0.62326	D	0.03	.	14.6161	0.68549	1.0:0.0:0.0:0.0	.	187;247;187	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	S	247;187;187;187;187	ENSP00000379496:F247S;ENSP00000379494:F187S;ENSP00000318105:F187S;ENSP00000379487:F187S;ENSP00000379485:F187S	ENSP00000318105:F187S	F	-	2	0	PDE1C	31879479	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.300000	0.96151	1.921000	0.55644	0.383000	0.25322	TTT		0.398	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1				25	32	0	0	0	0.007291	0	25	32		
SEMA3A	10371	broad.mit.edu	37	7	83675657	83675657	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:83675657T>A	ENST00000265362.4	-	6	964	c.650A>T	c.(649-651)gAt>gTt	p.D217V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D217V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	217	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.D217V(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCACCTGGAATCATGCTGCTC	0.428																																						uc003uhz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)|kidney(1)	4						c.(649-651)GAT>GTT		semaphorin 3A precursor							205.0	186.0	193.0					7																	83675657		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83675657T>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.650A>T	7.37:g.83675657T>A	ENSP00000265362:p.Asp217Val						p.D217V	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			6	965	-			217			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.650A>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.553294	0.86127	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.26067	1.76;1.76	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.042496	0.85682	D	0.000000	T	0.58552	0.2130	M	0.88241	2.94	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.65853	-0.6067	10	0.59425	D	0.04	.	16.2965	0.82776	0.0:0.0:0.0:1.0	.	217	Q14563	SEM3A_HUMAN	V	217	ENSP00000265362:D217V;ENSP00000415260:D217V	ENSP00000265362:D217V	D	-	2	0	SEMA3A	83513593	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	7.642000	0.83385	2.243000	0.73865	0.528000	0.53228	GAT		0.428	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2		NM_006080		17	139	0	0	0	0.008871	0	17	139		
ZKSCAN5	23660	broad.mit.edu	37	7	99117480	99117480	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:99117480C>T	ENST00000394170.2	+	4	835	c.584C>T	c.(583-585)cCc>cTc	p.P195L	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P195L|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P195L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P195L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCTTCCCTTCCCCTGAAGGAC	0.532																																						uc003uqv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(583-585)CCC>CTC		zinc finger with KRAB and SCAN domains 5							104.0	94.0	97.0					7																	99117480		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99117480C>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.584C>T	7.37:g.99117480C>T	ENSP00000377725:p.Pro195Leu					ZKSCAN5_uc010lfx.2_Missense_Mutation_p.P195L|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.P195L|ZKSCAN5_uc003uqx.2_Intron|ZKSCAN5_uc003uqy.2_5'UTR	p.P195L	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			4	708	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		195					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.584C>T	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282576	0.80692	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.06218	3.33;3.33;3.33	3.9	3.9	0.45041	.	0.146062	0.32041	N	0.006665	T	0.03136	0.0092	N	0.08118	0	0.48395	D	0.999648	P	0.47106	0.89	B	0.37888	0.26	T	0.60052	-0.7338	10	0.24483	T	0.36	.	11.6913	0.51516	0.0:1.0:0.0:0.0	.	195	Q9Y2L8	ZKSC5_HUMAN	L	195	ENSP00000322872:P195L;ENSP00000392104:P195L;ENSP00000377725:P195L	ENSP00000322872:P195L	P	+	2	0	ZKSCAN5	98955416	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.930000	0.56522	2.478000	0.83669	0.563000	0.77884	CCC		0.532	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1		NM_014569		28	91	0	0	0	0.012213	0	28	91		
FBXO24	26261	broad.mit.edu	37	7	100189393	100189393	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:100189393C>T	ENST00000241071.6	+	4	748	c.426C>T	c.(424-426)acC>acT	p.T142T	FBXO24_ENST00000427939.2_Silent_p.T180T|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000468962.1_Silent_p.T130T|FBXO24_ENST00000360609.2_Silent_p.T128T|FBXO24_ENST00000465843.1_Silent_p.T128T|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	142					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.T180T(1)|p.T142T(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTTGCCCACCAAGGATCACG	0.607																																						uc003uvm.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|skin(1)	4						c.(424-426)ACC>ACT		F-box only protein 24 isoform 1							82.0	78.0	79.0					7																	100189393		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100189393C>T	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.426C>T	7.37:g.100189393C>T						FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Silent_p.T128T|FBXO24_uc003uvn.1_5'UTR|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Silent_p.T180T|FBXO24_uc011kka.1_Silent_p.T130T	p.T142T	NM_033506	NP_277041	O75426	FBX24_HUMAN			4	719	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		142					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.426C>T	CCDS5698.1																																																																																				0.607	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1				41	66	0	0	0	0.01441	0	41	66		
RELN	5649	broad.mit.edu	37	7	103243875	103243875	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:103243875A>G	ENST00000428762.1	-	24	3368	c.3209T>C	c.(3208-3210)aTg>aCg	p.M1070T	RELN_ENST00000343529.5_Missense_Mutation_p.M1070T|RELN_ENST00000424685.2_Missense_Mutation_p.M1070T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1070					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.M1070T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAATCTGACATAATTGTGGA	0.507																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(3208-3210)ATG>ACG		reelin isoform a							101.0	98.0	99.0					7																	103243875		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103243875A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3209T>C	7.37:g.103243875A>G	ENSP00000392423:p.Met1070Thr					RELN_uc010liz.2_Missense_Mutation_p.M1070T	p.M1070T	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	24	3369	-			1070					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3209T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.725803	0.48833	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22743	1.94;2.11;1.98	5.45	5.45	0.79879	.	0.054467	0.85682	D	0.000000	T	0.16599	0.0399	L	0.34521	1.04	0.47123	D	0.999328	B;B	0.31625	0.332;0.039	B;B	0.26094	0.066;0.023	T	0.05484	-1.0882	10	0.23302	T	0.38	.	15.542	0.76057	1.0:0.0:0.0:0.0	.	1070;1070	P78509-2;P78509	.;RELN_HUMAN	T	1070	ENSP00000392423:M1070T;ENSP00000345694:M1070T;ENSP00000388446:M1070T	ENSP00000345694:M1070T	M	-	2	0	RELN	103031111	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.701000	0.91331	2.064000	0.61679	0.533000	0.62120	ATG		0.507	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		31	93	0	0	0	0.009535	0	31	93		
RNF133	168433	broad.mit.edu	37	7	122338738	122338738	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr7:122338738C>G	ENST00000340112.2	-	1	472	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	79	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E79Q(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATTTTTCCCTCTGGTGGCACT	0.448																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(235-237)GAG>CAG		ring finger protein 133							107.0	115.0	112.0					7																	122338738		2203	4299	6502	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338738C>G	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.235G>C	7.37:g.122338738C>G	ENSP00000344489:p.Glu79Gln					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.E79Q	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	471	-			79			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.235G>C	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	C	7.846	0.722893	0.15439	.	.	ENSG00000188050	ENST00000340112	T	0.14893	2.47	6.06	4.26	0.50523	.	0.926487	0.09062	N	0.854174	T	0.21718	0.0523	M	0.63428	1.95	0.09310	N	1	B	0.25235	0.121	B	0.32928	0.155	T	0.26155	-1.0111	10	0.36615	T	0.2	.	7.1023	0.25344	0.1399:0.7179:0.0:0.1421	.	79	Q8WVZ7	RN133_HUMAN	Q	79	ENSP00000344489:E79Q	ENSP00000344489:E79Q	E	-	1	0	RNF133	122125974	0.000000	0.05858	0.094000	0.20943	0.506000	0.33950	0.103000	0.15292	1.581000	0.49865	0.655000	0.94253	GAG		0.448	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1		NM_139175		38	94	0	0	0	0.019004	0	38	94		
ANK1	286	broad.mit.edu	37	8	41615618	41615618	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:41615618G>A	ENST00000347528.4	-	2	148	c.65C>T	c.(64-66)tCa>tTa	p.S22L	ANK1_ENST00000289734.7_Missense_Mutation_p.S22L|ANK1_ENST00000396942.1_Missense_Mutation_p.S22L|ANK1_ENST00000352337.4_Missense_Mutation_p.S22L|ANK1_ENST00000265709.8_Missense_Mutation_p.S55L|ANK1_ENST00000379758.2_Missense_Mutation_p.S22L|ANK1_ENST00000396945.1_Missense_Mutation_p.S22L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	22	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S22L(1)|p.S55L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAAGTTACCTGATCTTGCTGC	0.507																																						uc003xok.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(64-66)TCA>TTA		ankyrin 1 isoform 1							290.0	276.0	281.0					8																	41615618		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41615618G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.65C>T	8.37:g.41615618G>A	ENSP00000339620:p.Ser22Leu					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.S22L|ANK1_uc003xoj.2_Missense_Mutation_p.S22L|ANK1_uc003xol.2_Missense_Mutation_p.S22L|ANK1_uc003xom.2_Missense_Mutation_p.S55L	p.S22L	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		2	149	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	22			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.65C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232211	0.95207	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.54	5.54	0.83059	Ankyrin repeat-containing domain (2);	0.068643	0.64402	D	0.000012	T	0.74068	0.3668	L	0.46670	1.46	0.58432	D	0.999999	P;P;B;D;P	0.65815	0.904;0.913;0.36;0.995;0.951	P;P;B;D;P	0.63488	0.767;0.713;0.128;0.915;0.767	T	0.74538	-0.3632	10	0.62326	D	0.03	.	19.8467	0.96710	0.0:0.0:1.0:0.0	.	55;22;22;22;22	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	L	22;22;22;22;22;22;55;22	ENSP00000339620:S22L;ENSP00000289734:S22L;ENSP00000369082:S22L;ENSP00000380149:S22L;ENSP00000380147:S22L;ENSP00000309131:S22L;ENSP00000265709:S55L	ENSP00000265709:S55L	S	-	2	0	ANK1	41734775	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	9.050000	0.93843	2.769000	0.95229	0.563000	0.77884	TCA		0.507	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		NM_020475		63	297	0	0	0	0.01441	0	63	297		
ADCY8	114	broad.mit.edu	37	8	131861957	131861957	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:131861957G>C	ENST00000286355.5	-	10	4395	c.2303C>G	c.(2302-2304)cCc>cGc	p.P768R	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	768					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.P768R(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAGGATGAGGGGCAAACATTT	0.473										HNSCC(32;0.087)																												uc003ytd.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2302-2304)CCC>CGC		adenylate cyclase 8							129.0	113.0	118.0					8																	131861957		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131861957G>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2303C>G	8.37:g.131861957G>C	ENSP00000286355:p.Pro768Arg	HNSCC(32;0.087)				ADCY8_uc010mds.2_Intron	p.P768R	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		10	2559	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		768						Missense_Mutation	SNP	ENST00000286355.5	37	c.2303C>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477411	0.84640	.	.	ENSG00000155897	ENST00000286355	T	0.51817	0.69	5.31	5.31	0.75309	.	0.052466	0.85682	D	0.000000	T	0.63117	0.2484	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.62234	-0.6897	10	0.46703	T	0.11	.	17.9575	0.89074	0.0:0.0:1.0:0.0	.	768	P40145	ADCY8_HUMAN	R	768	ENSP00000286355:P768R	ENSP00000286355:P768R	P	-	2	0	ADCY8	131931139	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.329000	0.96413	2.465000	0.83290	0.655000	0.94253	CCC		0.473	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1				15	41	0	0	0	0.020292	0	15	41		
ARHGAP39	80728	broad.mit.edu	37	8	145770746	145770746	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr8:145770746C>T	ENST00000276826.5	-	5	2609	c.2408G>A	c.(2407-2409)cGc>cAc	p.R803H	ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R803H|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R803H			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	803	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R803H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTCCCAGCCGCGGGCCAGGCT	0.662																																						uc003zdt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2407-2409)CGC>CAC		KIAA1688 protein							42.0	48.0	46.0					8																	145770746		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145770746C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2408G>A	8.37:g.145770746C>T	ENSP00000276826:p.Arg803His					ARHGAP39_uc011llk.1_Missense_Mutation_p.R803H|ARHGAP39_uc003zds.1_Missense_Mutation_p.R803H	p.R803H	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			7	2963	-			803			MyTH4.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2408G>A		.	.	.	.	.	.	.	.	.	.	C	19.71	3.879219	0.72294	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	D;D;D	0.93076	-3.16;-3.16;-3.16	5.19	5.19	0.71726	MyTH4 domain (2);	0.381269	0.28182	N	0.016282	D	0.95937	0.8677	M	0.78456	2.415	0.37014	D	0.89587	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.96649	0.9480	10	0.56958	D	0.05	-24.6067	10.0905	0.42445	0.0:0.9074:0.0:0.0926	.	803;803	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	H	803	ENSP00000276826:R803H;ENSP00000366522:R803H;ENSP00000445075:R803H	ENSP00000276826:R803H	R	-	2	0	ARHGAP39	145741554	0.198000	0.23374	0.936000	0.37596	0.979000	0.70002	3.094000	0.50227	2.577000	0.86979	0.650000	0.86243	CGC		0.662	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1				10	99	0	0	0	0.008291	0	10	99		
FRMPD1	22844	broad.mit.edu	37	9	37746199	37746199	+	Silent	SNP	C	C	T	rs147765962		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:37746199C>T	ENST00000539465.1	+	16	4763	c.4170C>T	c.(4168-4170)acC>acT	p.T1390T	FRMPD1_ENST00000377765.3_Silent_p.T1390T|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1390						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.T1390T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCTGCACCACCGCACCCCTGT	0.662																																						uc004aag.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4168-4170)ACC>ACT		FERM and PDZ domain containing 1		C		0,4406		0,0,2203	32.0	39.0	36.0		4170	-10.6	0.0	9	dbSNP_134	36	1,8599		0,1,4299	no	coding-synonymous	FRMPD1	NM_014907.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1390/1579	37746199	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746199C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4170C>T	9.37:g.37746199C>T						FRMPD1_uc004aah.1_Silent_p.T1390T	p.T1390T	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4214	+			1390					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.4170C>T	CCDS6612.1																																																																																				0.662	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		NM_014907		66	71	0	0	0	0.01441	0	66	71		
C9orf41	138199	broad.mit.edu	37	9	77642968	77642968	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:77642968C>T	ENST00000376834.3	-	1	342	c.190G>A	c.(190-192)Gag>Aag	p.E64K	C9orf41_ENST00000376837.3_Missense_Mutation_p.E64K|C9orf41_ENST00000376830.3_Missense_Mutation_p.E64K	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	64								p.E64K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CAGAAGTGCTCACGCTCAAGC	0.706																																						uc004ajq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(190-192)GAG>AAG		hypothetical protein LOC138199							15.0	14.0	14.0					9																	77642968		2192	4284	6476	SO:0001583	missense	138199							g.chr9:77642968C>T	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.190G>A	9.37:g.77642968C>T	ENSP00000366030:p.Glu64Lys					C9orf41_uc011lsi.1_RNA	p.E64K	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN			1	343	-			64					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.190G>A	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621238	0.66787	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000376830	.	.	.	5.25	5.25	0.73442	.	0.175578	0.49916	D	0.000131	T	0.59729	0.2215	N	0.16602	0.42	0.44880	D	0.997896	D	0.63880	0.993	D	0.68192	0.956	T	0.55792	-0.8085	9	0.19590	T	0.45	-11.8637	16.6721	0.85270	0.0:1.0:0.0:0.0	.	64	Q8N4J0	CI041_HUMAN	K	64	.	ENSP00000366026:E64K	E	-	1	0	C9orf41	76832788	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.938000	0.56583	2.467000	0.83353	0.561000	0.74099	GAG		0.706	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1		NM_152420		4	10	0	0	0	0.009096	0	4	10		
C9orf41	138199	broad.mit.edu	37	9	77642970	77642970	+	Missense_Mutation	SNP	C	C	T	rs200933121		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:77642970C>T	ENST00000376834.3	-	1	340	c.188G>A	c.(187-189)cGt>cAt	p.R63H	C9orf41_ENST00000376837.3_Missense_Mutation_p.R63H|C9orf41_ENST00000376830.3_Missense_Mutation_p.R63H	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	63								p.R63H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GAAGTGCTCACGCTCAAGCCT	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		9958	0.001		0.0	False		,,,				2504	0.0					uc004ajq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(187-189)CGT>CAT		hypothetical protein LOC138199							15.0	14.0	14.0					9																	77642970		2191	4284	6475	SO:0001583	missense	138199							g.chr9:77642970C>T	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.188G>A	9.37:g.77642970C>T	ENSP00000366030:p.Arg63His					C9orf41_uc011lsi.1_RNA	p.R63H	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN			1	341	-			63					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.188G>A	CCDS6649.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.81	3.702550	0.68501	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000376830	.	.	.	5.25	4.35	0.52113	.	0.108239	0.64402	D	0.000011	T	0.47838	0.1467	L	0.39898	1.24	0.37629	D	0.921596	B	0.13594	0.008	B	0.08055	0.003	T	0.50285	-0.8846	9	0.49607	T	0.09	-7.6143	11.7533	0.51862	0.0:0.9178:0.0:0.0822	.	63	Q8N4J0	CI041_HUMAN	H	63	.	ENSP00000366026:R63H	R	-	2	0	C9orf41	76832790	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.938000	0.56583	1.220000	0.43490	0.561000	0.74099	CGT		0.706	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1		NM_152420		4	10	0	0	0	0.009096	0	4	10		
GCNT1	2650	broad.mit.edu	37	9	79118499	79118499	+	Missense_Mutation	SNP	A	A	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:79118499A>C	ENST00000376730.4	+	4	1685	c.1202A>C	c.(1201-1203)aAg>aCg	p.K401T	GCNT1_ENST00000444201.2_Missense_Mutation_p.K401T|GCNT1_ENST00000442371.1_Missense_Mutation_p.K401T|GCNT1_ENST00000536223.1_Missense_Mutation_p.K401T	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	401	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.K401T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTGCCAATAAGTTTGACGTG	0.488																																						uc010mpf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1201-1203)AAG>ACG		beta-1,3-galactosyl-O-glycosyl-glycoprotein							116.0	93.0	101.0					9																	79118499		2203	4300	6503	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79118499A>C	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.1202A>C	9.37:g.79118499A>C	ENSP00000365920:p.Lys401Thr					GCNT1_uc010mpg.2_Missense_Mutation_p.K401T|GCNT1_uc010mph.2_Missense_Mutation_p.K401T|GCNT1_uc004akf.3_Missense_Mutation_p.K401T|GCNT1_uc010mpi.2_Missense_Mutation_p.K401T|GCNT1_uc004akh.3_Missense_Mutation_p.K401T	p.K401T	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			3	1543	+			401			Lumenal (Potential).|Catalytic (By similarity).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.1202A>C	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	a	24.1	4.488718	0.84962	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.80982	2.52	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.65721	-0.6099	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	401	Q02742	GCNT1_HUMAN	T	401	ENSP00000440883:K401T;ENSP00000415454:K401T;ENSP00000390703:K401T;ENSP00000365920:K401T	.	K	+	2	0	GCNT1	78308319	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAG		0.488	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1		NM_001097634		19	142	0	0	0	0.007413	0	19	142		
AGTPBP1	23287	broad.mit.edu	37	9	88272367	88272367	+	Silent	SNP	G	G	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:88272367G>A	ENST00000357081.3	-	10	1036	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	AGTPBP1_ENST00000432218.1_Silent_p.L136L|AGTPBP1_ENST00000376109.3_Silent_p.L350L|AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.L298L|AGTPBP1_ENST00000491784.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	298					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.L298L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GTATTATACAGAATTTTCATC	0.289																																						uc011ltd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(892-894)CTG>TTG		ATP/GTP binding protein 1							102.0	94.0	97.0					9																	88272367		2203	4299	6502	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88272367G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.892C>T	9.37:g.88272367G>A						AGTPBP1_uc011ltc.1_Silent_p.L196L|AGTPBP1_uc010mqc.2_Silent_p.L298L|AGTPBP1_uc011lte.1_Silent_p.L350L	p.L298L	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			9	925	-			298					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.892C>T																																																																																					0.289	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1		NM_015239		7	52	0	0	0	0.00308	0	7	52		
CDK20	23552	broad.mit.edu	37	9	90584799	90584799	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr9:90584799C>A	ENST00000325303.8	-	6	904	c.599G>T	c.(598-600)gGg>gTg	p.G200V	CDK20_ENST00000605159.1_Missense_Mutation_p.G179V|CDK20_ENST00000336654.5_Missense_Mutation_p.G192V|CDK20_ENST00000375883.3_Missense_Mutation_p.G179V|CDK20_ENST00000375871.4_Intron	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.G192V(1)|p.G200V(1)		skin(1)	1						AAGGGGGGACCCATTCAACAG	0.577																																						uc004apr.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(598-600)GGG>GTG		cell cycle related kinase isoform 3							90.0	88.0	89.0					9																	90584799		2203	4300	6503	SO:0001583	missense	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90584799C>A	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.599G>T	9.37:g.90584799C>A	ENSP00000322343:p.Gly200Val					CDK20_uc004aps.2_Missense_Mutation_p.G179V|CDK20_uc004apt.2_Missense_Mutation_p.G192V|CDK20_uc004apu.2_Intron	p.G200V	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN			6	905	-			200			Protein kinase.		A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Missense_Mutation	SNP	ENST00000325303.8	37	c.599G>T	CCDS35060.1	.	.	.	.	.	.	.	.	.	.	.	9.095	1.002723	0.19121	.	.	ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000325303;ENST00000286878	T;T;T	0.70164	-0.46;0.51;-0.46	4.7	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.494853	0.22440	N	0.060022	T	0.81269	0.4787	M	0.93720	3.45	0.80722	D	1	B;P;P	0.51240	0.434;0.943;0.589	B;P;P	0.52109	0.34;0.69;0.589	D	0.86103	0.1557	10	0.66056	D	0.02	-31.7107	13.5076	0.61493	0.0:1.0:0.0:0.0	.	192;179;200	A2A390;E7EQ88;Q8IZL9	.;.;CDK20_HUMAN	V	179;192;200;179	ENSP00000365043:G179V;ENSP00000338975:G192V;ENSP00000322343:G200V	ENSP00000286878:G179V	G	-	2	0	CDK20	89774619	0.013000	0.17824	0.943000	0.38184	0.996000	0.88848	0.544000	0.23253	2.324000	0.78689	0.561000	0.74099	GGG		0.577	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1		NM_012119		60	103	1	0	4.88506e-25	0.01441	5.78493e-25	60	103		
TMEM47	83604	broad.mit.edu	37	X	34657461	34657461	+	Silent	SNP	G	G	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:34657461G>T	ENST00000275954.3	-	2	528	c.270C>A	c.(268-270)gcC>gcA	p.A90A		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	90						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A90A(2)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGAGAATGATGGCAGCGCCGC	0.448																																						uc004ddh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(1)	1						c.(268-270)GCC>GCA		transmembrane protein 47							74.0	63.0	67.0					X																	34657461		2202	4300	6502	SO:0001819	synonymous_variant	83604					integral to membrane		g.chrX:34657461G>T	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.270C>A	X.37:g.34657461G>T						TMEM47_uc010ngs.2_RNA	p.A90A	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN			2	529	-			90			Helical; (Potential).		Q5JR44	Silent	SNP	ENST00000275954.3	37	c.270C>A	CCDS14235.1																																																																																				0.448	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1		NM_031442		8	7	1	0	3.09899e-07	0.004482	3.3469e-07	8	7		
BCOR	54880	broad.mit.edu	37	X	39933138	39933138	+	Silent	SNP	T	T	C			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:39933138T>C	ENST00000378444.4	-	4	1689	c.1461A>G	c.(1459-1461)ctA>ctG	p.L487L	BCOR_ENST00000342274.4_Silent_p.L487L|BCOR_ENST00000397354.3_Silent_p.L487L|BCOR_ENST00000378455.4_Silent_p.L487L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	487					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L487L(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGGAGGAGATAGTGTTTCTT	0.512			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3		NaN		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1459-1461)CTA>CTG		BCL-6 interacting corepressor isoform c							89.0	74.0	79.0					X																	39933138		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933138T>C	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1461A>G	X.37:g.39933138T>C						BCOR_uc004dep.3_Silent_p.L487L|BCOR_uc004deo.3_Silent_p.L487L|BCOR_uc004dem.3_Silent_p.L487L|BCOR_uc004deq.3_Silent_p.L487L	p.L487L	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	1753	-			487					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1461A>G	CCDS48093.1																																																																																				0.512	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2		NM_017745		44	18	0	0	0	0.009718	0	44	18		
ABCD1	215	broad.mit.edu	37	X	152994806	152994806	+	Silent	SNP	C	C	T			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:152994806C>T	ENST00000218104.3	+	2	1419	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	ABCD1_ENST00000370129.4_Silent_p.S155S	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	340	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.S340S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTGGAGCGCCTCGGGCC	0.597																																						uc004fif.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1018-1020)AGC>AGT		ATP-binding cassette, sub-family D (ALD), member							161.0	115.0	130.0					X																	152994806		2203	4300	6503	SO:0001819	synonymous_variant	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:152994806C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1020C>T	X.37:g.152994806C>T							p.S340S	NM_000033	NP_000024	P33897	ABCD1_HUMAN			2	1419	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		340			ABC transmembrane type-1.|Helical; (Potential).		Q6GTZ2	Silent	SNP	ENST00000218104.3	37	c.1020C>T	CCDS14728.1																																																																																				0.597	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1		NM_000033		14	110	0	0	0	0.028581	0	14	110		
LHX9	56956	broad.mit.edu	37	1	197881675	197881675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:197881675delC	ENST00000367390.3	+	1	41	c.14delC	c.(13-15)accfs	p.T6fs	LHX9_ENST00000367391.1_Frame_Shift_Del_p.T6fs|LHX9_ENST00000606127.1_3'UTR	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	0					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CTGAACGGTACCACTCTAGAG	0.567																																						uc001gui.1		NaN																	0				ovary(1)	1						c.(13-15)ACCfs		LIM homeobox 9 isoform 2							267.0	239.0	248.0					1																	197881675		2203	4300	6503	SO:0001589	frameshift_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197881675delC	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367390.3:c.14delC	1.37:g.197881675delC	ENSP00000356360:p.Thr6fs					LHX9_uc009wzc.1_RNA	p.T5fs	NM_001014434	NP_001014434	Q9NQ69	LHX9_HUMAN			1	41	+			Error:Variant_position_missing_in_Q9NQ69_after_alignment					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Frame_Shift_Del	DEL	ENST00000367390.3	37	c.14delC	CCDS30962.1																																																																																				0.567	LHX9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086544.1		NM_020204		91	139	NaN	NaN	NaN	NaN	NaN	91	139	---	---
OR13G1	441933	broad.mit.edu	37	1	247835572	247835572	+	Frame_Shift_Del	DEL	G	G	-	rs117404602	byFrequency	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr1:247835572delG	ENST00000359688.2	-	1	793	c.772delC	c.(772-774)cgcfs	p.R258fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			GAAGCAGGGCGGATATAGGTG	0.463																																						uc001idi.1		NaN																	0				skin(1)	1						c.(772-774)CGCfs		olfactory receptor, family 13, subfamily G,							138.0	124.0	128.0					1																	247835572		2203	4300	6503	SO:0001589	frameshift_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835572delG	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.772delC	1.37:g.247835572delG	ENSP00000352717:p.Arg258fs						p.R258fs	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	772	-	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)		258			Extracellular (Potential).		B2RN80|Q5T2T2|Q6IF86	Frame_Shift_Del	DEL	ENST00000359688.2	37	c.772delC	CCDS31094.1																																																																																				0.463	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1		NM_001005487		62	70	NaN	NaN	NaN	NaN	NaN	62	70	---	---
FAM21A	387680	broad.mit.edu	37	10	51855357	51855359	+	Splice_Site	DEL	AGG	AGG	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr10:51855357_51855359delAGG	ENST00000282633.5	+	15	1285_1286	c.1240_1241delAGG	c.(1240-1242)agg>g	p.R414del	FAM21A_ENST00000399339.2_Splice_Site_p.R326del|FAM21A_ENST00000351071.6_Splice_Site_p.R414del|FAM21A_ENST00000314664.7_Splice_Site_p.R414del	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	414					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						TTCCACCCACAGGAGACACGGAT	0.512																																						uc001jjb.2		NaN																	0				ovary(1)	1						c.e15-1		hypothetical protein LOC387680																																				SO:0001630	splice_region_variant	387680				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:51855357_51855359delAGG	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.1241-1AGG>-	10.37:g.51855357_51855359delAGG						FAM21A_uc001jja.1_Splice_Site_p.G166_splice|FAM21A_uc010qhi.1_Splice_Site_p.G414_splice|FAM21A_uc010qhj.1_Splice_Site_p.G414_splice|FAM21B_uc009xoq.2_Splice_Site_p.G326_splice	p.G414_splice	NM_001005751	NP_001005751	Q641Q2	FA21A_HUMAN			15	1323	+								A2A3S2|A2A3U6|Q6DHY0	Splice_Site	DEL	ENST00000282633.5	37	c.1241_splice	CCDS41527.1																																																																																				0.512	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2		NM_001005751	In_Frame_Del	17	38	NaN	NaN	NaN	NaN	NaN	17	38	---	---
OR52K1	390036	broad.mit.edu	37	11	4510227	4510227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:4510227delT	ENST00000307632.3	+	1	119	c.97delT	c.(97-99)ttcfs	p.F33fs		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCCATCCCCTTCTGCTTTGC	0.498																																						uc001lza.1		NaN																	0					0						c.(97-99)TTCfs		olfactory receptor, family 52, subfamily K,							193.0	184.0	187.0					11																	4510227		2201	4298	6499	SO:0001589	frameshift_variant	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510227delT	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.97delT	11.37:g.4510227delT	ENSP00000302422:p.Phe33fs						p.F33fs	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	97	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	33			Helical; Name=1; (Potential).		B9EH54|Q6IFK5	Frame_Shift_Del	DEL	ENST00000307632.3	37	c.97delT	CCDS31352.1																																																																																				0.498	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1		NM_001005171		99	63	NaN	NaN	NaN	NaN	NaN	99	63	---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						uc001phk.2		NaN																	2	Insertion - Frameshift(2)		upper_aerodigestive_tract(1)|prostate(1)		0						c.(628-630)ACCfs		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT							p.T210fs	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	5	674_675	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	210					B2R9X8|B7ZLF6|Q2M1L9	Frame_Shift_Ins	INS	ENST00000532855.1	37	c.629_630insA																																																																																					0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1		NM_002426		15	221	NaN	NaN	NaN	NaN	NaN	15	221	---	---
USP5	8078	broad.mit.edu	37	12	6973255	6973287	+	In_Frame_Del	DEL	GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	-	rs369107454|rs202087351|rs201277720		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:6973255_6973287delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	ENST00000229268.8	+	17	2192_2224	c.2140_2172delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	c.(2140-2172)ggctccacaagcgcagcagccgacccccctcctdel	p.GSTSAAADPPP714del	TPI1_ENST00000229270.4_5'Flank|USP5_ENST00000389231.5_In_Frame_Del_p.GSTSAAADPPP691del	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	714	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.D698N(1)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TAGTGGGCCGGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTGAGGACTGTG	0.635																																						uc001qri.3		NaN																	1	Substitution - Missense(1)	p.D698N(1)	lung(1)	lung(2)|breast(1)|skin(1)	4						c.(2140-2172)GGCTCCACAAGCGCAGCAGCCGACCCCCCTCCTdel		ubiquitin specific peptidase 5 isoform 1																																				SO:0001651	inframe_deletion	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6973255_6973287delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.2140_2172delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	12.37:g.6973255_6973287delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	ENSP00000229268:p.Gly714_Pro724del					USP5_uc001qrh.3_In_Frame_Del_p.GSTSAAADPPP691del	p.GSTSAAADPPP714del	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			17	2199_2231	+			714_724			UBA 2.		D3DUS7|D3DUS8|Q96J22	In_Frame_Del	DEL	ENST00000229268.8	37	c.2140_2172delGGCTCCACAAGCGCAGCAGCCGACCCCCCTCCT	CCDS41743.1																																																																																				0.635	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1				7	188	NaN	NaN	NaN	NaN	NaN	7	188	---	---
AVPR1A	552	broad.mit.edu	37	12	63543915	63543926	+	In_Frame_Del	DEL	GGTACCCAAGAT	GGTACCCAAGAT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:63543915_63543926delGGTACCCAAGAT	ENST00000299178.2	-	1	796_807	c.691_702delATCTTGGGTACC	c.(691-702)atcttgggtaccdel	p.ILGT231del		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	231					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	AGCCGTAGCAGGTACCCAAGATGACCACGGGC	0.632																																						uc001sro.1		NaN																	0					0						c.(691-702)ATCTTGGGTACCdel		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)																																			SO:0001651	inframe_deletion	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543915_63543926delGGTACCCAAGAT	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.691_702delATCTTGGGTACC	12.37:g.63543915_63543926delGGTACCCAAGAT	ENSP00000299178:p.Ile231_Thr234del						p.ILGT231del	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2665_2676	-			231_234			Helical; Name=5; (Potential).			In_Frame_Del	DEL	ENST00000299178.2	37	c.691_702delATCTTGGGTACC	CCDS8965.1																																																																																				0.632	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1				36	74	NaN	NaN	NaN	NaN	NaN	36	74	---	---
VPS33A	65082	broad.mit.edu	37	12	122745915	122745919	+	Frame_Shift_Del	DEL	TCAAC	TCAAC	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr12:122745915_122745919delTCAAC	ENST00000267199.4	-	4	484_488	c.372_376delGTTGA	c.(370-378)cggttgaagfs	p.LK125fs	RP11-512M8.5_ENST00000535844.1_Frame_Shift_Del_p.LK125fs|VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Frame_Shift_Del_p.LK125fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	125					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCCAGATCCTTCAACCGCTGTTCGC	0.478																																						uc001ucd.2		NaN																	0				skin(1)	1						c.(370-378)CGGTTGAAGfs		vacuolar protein sorting 33A																																				SO:0001589	frameshift_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122745915_122745919delTCAAC	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.372_376delGTTGA	12.37:g.122745915_122745919delTCAAC	ENSP00000267199:p.Leu125fs					VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Frame_Shift_Del_p.R124fs	p.R124fs	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	4	485_489	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		124_126					Q547V4|Q9H5Q0	Frame_Shift_Del	DEL	ENST00000267199.4	37	c.372_376delGTTGA	CCDS9231.1																																																																																				0.478	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2				55	131	NaN	NaN	NaN	NaN	NaN	55	131	---	---
NEK3	4752	broad.mit.edu	37	13	52707832	52707832	+	Frame_Shift_Del	DEL	C	C	-	rs34488913	byFrequency	TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr13:52707832delC	ENST00000400357.2	-	13	2671	c.1378delG	c.(1378-1380)gagfs	p.E460fs	NEK3_ENST00000452082.2_Frame_Shift_Del_p.E481fs|NEK3_ENST00000339406.3_Frame_Shift_Del_p.E477fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.E477fs			P51956	NEK3_HUMAN	NIMA-related kinase 3	477					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TACGTGTCCTCCTCATCTAGC	0.488																																						uc001vgi.2		NaN																	0				ovary(1)|stomach(1)	2						c.(1429-1431)GAGfs		NIMA-related kinase 3 isoform a							55.0	54.0	54.0					13																	52707832		1981	4155	6136	SO:0001589	frameshift_variant	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52707832delC	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.1378delG	13.37:g.52707832delC	ENSP00000383210:p.Glu460fs					NEK3_uc001vgg.2_Frame_Shift_Del_p.E454fs|NEK3_uc001vgh.2_Frame_Shift_Del_p.E481fs|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Frame_Shift_Del_p.E460fs	p.E477fs	NM_152720	NP_689933	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	17	1664	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	477					A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Frame_Shift_Del	DEL	ENST00000400357.2	37	c.1429delG	CCDS53871.1																																																																																				0.488	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3				2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
SMTNL2	342527	broad.mit.edu	37	17	4510756	4510756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:4510756delT	ENST00000389313.4	+	8	1427	c.1360delT	c.(1360-1362)tacfs	p.Y454fs	SMTNL2_ENST00000338859.4_Frame_Shift_Del_p.Y310fs|RP11-141J13.5_ENST00000573270.1_lincRNA	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	454	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCAGTCGCTGTACAACCACCT	0.612																																						uc002fyf.1		NaN																	0					0						c.(1360-1362)TACfs		smoothelin-like 2 isoform 1							142.0	136.0	138.0					17																	4510756		2203	4300	6503	SO:0001589	frameshift_variant	342527							g.chr17:4510756delT	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.1360delT	17.37:g.4510756delT	ENSP00000373964:p.Tyr454fs					SMTNL2_uc002fye.2_Frame_Shift_Del_p.Y310fs|uc002fyg.1_5'Flank	p.Y454fs	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	8	1427	+			454			CH.		Q6ZVK6	Frame_Shift_Del	DEL	ENST00000389313.4	37	c.1360delT	CCDS45583.1																																																																																				0.612	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1		NM_198501		117	91	NaN	NaN	NaN	NaN	NaN	117	91	---	---
HCRT	3060	broad.mit.edu	37	17	40336501	40336503	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:40336501_40336503delGCA	ENST00000293330.1	-	2	151_153	c.65_67delTGC	c.(64-69)ctgccg>ccg	p.L22del		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	22					eating behavior (GO:0042755)|negative regulation of DNA replication (GO:0008156)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of transmission of nerve impulse (GO:0051970)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transmission of nerve impulse (GO:0051971)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)		p.L22delL(1)		breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCGCGGgcggcagcagcagcag	0.704																																						uc002hzc.1		NaN																	1	Deletion - In frame(1)		central_nervous_system(1)		0						c.(64-69)CTGCCG>CCG		orexin precursor																																				SO:0001651	inframe_deletion	3060				neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle		g.chr17:40336501_40336503delGCA	AF041240	CCDS11421.1	17q21	2013-02-28				ENSG00000161610		"""Endogenous ligands"""	4847	protein-coding gene	gene with protein product	"""prepro-orexin"""	602358				9419374, 9491897	Standard	NM_001524		Approved	PPOX, OX	uc002hzc.1	O43612		ENST00000293330.1:c.65_67delTGC	17.37:g.40336510_40336512delGCA	ENSP00000293330:p.Leu22del						p.L22del	NM_001524	NP_001515	O43612	OREX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	152_154	-		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)	22						In_Frame_Del	DEL	ENST00000293330.1	37	c.65_67delTGC	CCDS11421.1																																																																																				0.704	HCRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449792.1		NM_001524		4	8	NaN	NaN	NaN	NaN	NaN	4	8	---	---
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs377391469|rs142406301		TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr17:73626918_73626919insTG	ENST00000317905.5	-	12	1745		c.e12-1		RECQL5_ENST00000423245.2_Splice_Site|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_Splice_Site	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NaN																	1	Unknown(1)		upper_aerodigestive_tract(1)	kidney(3)	3						c.e12-1	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1																																				SO:0001630	splice_region_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73626918_73626919insTG	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1586-1->CA	17.37:g.73626921_73626922dupTG						RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	p.D529_splice	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		12	1742	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)							Q9H0B1|Q9P1W7|Q9UNC8	Splice_Site	INS	ENST00000317905.5	37	c.1586_splice	CCDS42380.1																																																																																				0.644	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259	Intron	5	10	NaN	NaN	NaN	NaN	NaN	5	10	---	---
FAM126B	285172	broad.mit.edu	37	2	201846351	201846351	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr2:201846351delG	ENST00000418596.3	-	12	1422	c.1235delC	c.(1234-1236)ccafs	p.P412fs	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	412						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAGATCAGTTGGTTGCTGTAC	0.478																																						uc002uws.3		NaN																	0				ovary(1)	1						c.(1234-1236)CCAfs		hypothetical protein LOC285172							98.0	96.0	97.0					2																	201846351		2203	4300	6503	SO:0001589	frameshift_variant	285172					intracellular		g.chr2:201846351delG	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1235delC	2.37:g.201846351delG	ENSP00000393667:p.Pro412fs					FAM126B_uc002uwu.2_Frame_Shift_Del_p.P386fs|FAM126B_uc002uwv.2_Frame_Shift_Del_p.P412fs	p.P412fs	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			12	1423	-			412					B2RCG7|Q4ZG87|Q53TX6	Frame_Shift_Del	DEL	ENST00000418596.3	37	c.1235delC	CCDS2335.1																																																																																				0.478	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3		NM_173822		9	67	NaN	NaN	NaN	NaN	NaN	9	67	---	---
CSNK1E	1454	broad.mit.edu	37	22	38696882	38696883	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chr22:38696882_38696883delGC	ENST00000396832.1	-	5	671_672	c.411_412delGC	c.(409-414)gggctgfs	p.L138fs	CSNK1E_ENST00000400206.2_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000413574.2_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000403904.1_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000359867.3_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000405675.3_Frame_Shift_Del_p.L138fs|CSNK1E_ENST00000498529.1_5'Flank	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TTCTTCCCCAGCCCCATGAGGA	0.584																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	uc003avj.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(409-414)GGGCTGfs		casein kinase 1 epsilon																																				SO:0001589	frameshift_variant	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38696882_38696883delGC		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.411_412delGC	22.37:g.38696882_38696883delGC	ENSP00000380044:p.Leu138fs					CSNK1E_uc003avk.2_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avo.2_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avp.1_Frame_Shift_Del_p.G137fs|CSNK1E_uc003avq.1_Frame_Shift_Del_p.G137fs	p.G137fs	NM_152221	NP_689407	P49674	KC1E_HUMAN			5	672_673	-	Melanoma(58;0.045)		137_138			Protein kinase.			Frame_Shift_Del	DEL	ENST00000396832.1	37	c.411_412delGC	CCDS13970.1																																																																																				0.584	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1		NM_001894		72	68	NaN	NaN	NaN	NaN	NaN	72	68	---	---
CACNA1F	778	broad.mit.edu	37	X	49089732	49089749	+	Splice_Site	DEL	GAAGGATTCTCTCACCTT	GAAGGATTCTCTCACCTT	-			TCGA-C4-A0F0-01A-12D-A10S-08	TCGA-C4-A0F0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	612fd956-9a41-4201-9d74-6ab50f6ae987	02addf8a-9108-4a60-bba3-c45d654a30f7	g.chrX:49089732_49089749delGAAGGATTCTCTCACCTT	ENST00000376265.2	-	1	84_87	c.23_26delAAGGTGAGAGAATCCTTC	c.(22-27)aaaggt>at	p.KG8del	CACNA1F_ENST00000376251.1_In_Frame_Del_p.8_14KGERILP>T|CCDC22_ENST00000376227.3_5'Flank|CACNA1F_ENST00000323022.5_Splice_Site_p.KG8del	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	8					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCAGGGATGGAAGGATTCTCTCACCTTTCCCGCCTTC	0.578																																						uc004dnb.2		NaN																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.e1+1		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)																																			SO:0001630	splice_region_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49089732_49089749delGAAGGATTCTCTCACCTT	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.25+1AAGGTGAGAGAATCCTTC>-	X.37:g.49089732_49089749delGAAGGATTCTCTCACCTT						CACNA1F_uc010nip.2_Splice_Site_p.D9_splice|CCDC22_uc011mna.1_5'Flank|CCDC22_uc004dnc.1_5'Flank|CCDC22_uc004dnd.1_5'Flank	p.D9_splice	NM_005183	NP_005174	O60840	CAC1F_HUMAN			1	87	-								A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Splice_Site	DEL	ENST00000376265.2	37	c.25_splice	CCDS35253.1																																																																																				0.578	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1		NM_005183	In_Frame_Del	11	26	NaN	NaN	NaN	NaN	NaN	11	26	---	---
