#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
ACAP3	116983	broad.mit.edu	37	1	1233261	1233261	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:1233261C>T	ENST00000354700.5	-	14	1271	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.A315T	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	357	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCCTGCACAGCCTGGACCCAG	0.687																																						uc001aeb.2		NaN																	0					0						c.(1069-1071)GCT>ACT		ArfGAP with coiled-coil, ankyrin repeat and PH							53.0	54.0	53.0					1																	1233261		2195	4296	6491	SO:0001583	missense	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1233261C>T	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1069G>A	1.37:g.1233261C>T	ENSP00000346733:p.Ala357Thr					ACAP3_uc001ady.2_Missense_Mutation_p.A87T|ACAP3_uc001aea.2_Missense_Mutation_p.A315T	p.A357T	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			14	1143	-			357			PH.		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.1069G>A	CCDS19.2	.	.	.	.	.	.	.	.	.	.	c	20.9	4.068267	0.76301	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.79247	-1.25;-1.25	3.59	3.59	0.41128	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	M	0.71206	2.165	0.51767	D	0.99993	D;D	0.76494	0.999;0.986	D;P	0.76575	0.988;0.797	D	0.88804	0.3287	10	0.72032	D	0.01	.	16.5207	0.84315	0.0:1.0:0.0:0.0	.	357;315	Q96P50;Q96P50-1	ACAP3_HUMAN;.	T	357;315	ENSP00000346733:A357T;ENSP00000321139:A315T	ENSP00000321139:A315T	A	-	1	0	ACAP3	1223124	1.000000	0.71417	0.336000	0.25522	0.855000	0.48748	7.453000	0.80700	2.285000	0.76669	0.450000	0.29827	GCT		0.687	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2		NM_030649		18	22	0	0	0	0.007413	0	18	22		
RER1	11079	broad.mit.edu	37	1	2327262	2327262	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:2327262C>T	ENST00000605895.1	+	2	166	c.33C>T	c.(31-33)gtC>gtT	p.V11V	RER1_ENST00000378518.1_Silent_p.V11V|RER1_ENST00000488353.1_Silent_p.V11V|RER1_ENST00000378513.3_Silent_p.V11V|RER1_ENST00000378512.1_Silent_p.V11V	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	11					positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GAGAATCCGTCCATGGGAAAC	0.418																																						uc001aje.1		NaN																	0					0						c.(31-33)GTC>GTT		RER1 retention in endoplasmic reticulum 1							106.0	108.0	108.0					1																	2327262		1823	4080	5903	SO:0001819	synonymous_variant	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2327262C>T	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.33C>T	1.37:g.2327262C>T						RER1_uc001ajf.1_Silent_p.V11V	p.V11V	NM_007033	NP_008964	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	2	224	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	11					O95322	Silent	SNP	ENST00000605895.1	37	c.33C>T	CCDS41232.1																																																																																				0.418	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2				8	37	0	0	0	0.004482	0	8	37		
MTHFR	4524	broad.mit.edu	37	1	11854051	11854051	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:11854051G>A	ENST00000376592.1	-	8	1571	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	MTHFR_ENST00000376583.3_Silent_p.T522T|MTHFR_ENST00000376585.1_Silent_p.T522T|MTHFR_ENST00000376590.3_Silent_p.T481T			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	481					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GTGAGTTGATGGTGAGGATGC	0.652																																						uc001atc.1		NaN																	0					0						c.(1441-1443)ACC>ACT		5,10-methylenetetrahydrofolate reductase	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						102.0	106.0	105.0					1																	11854051		2203	4300	6503	SO:0001819	synonymous_variant	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11854051G>A	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1443C>T	1.37:g.11854051G>A						MTHFR_uc001atb.1_Silent_p.T504T	p.T481T	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	9	1627	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	481					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	c.1443C>T	CCDS137.1																																																																																				0.652	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1		NM_005957		26	61	0	0	0	0.007291	0	26	61		
WDTC1	23038	broad.mit.edu	37	1	27623546	27623546	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:27623546G>C	ENST00000319394.3	+	11	1492	c.957G>C	c.(955-957)caG>caC	p.Q319H	WDTC1_ENST00000361771.3_Missense_Mutation_p.Q318H	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	319					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)	p.Q318Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAGAAGTCCAGAATGGCAAGA	0.542											OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009vst.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(955-957)CAG>CAC		WD and tetratricopeptide repeats 1							157.0	134.0	142.0					1																	27623546		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27623546G>C	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.957G>C	1.37:g.27623546G>C	ENSP00000317971:p.Gln319His		OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	795	WDTC1_uc001bno.2_Missense_Mutation_p.Q318H|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_5'UTR	p.Q319H	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	11	1492	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	319					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.957G>C		.	.	.	.	.	.	.	.	.	.	G	21.2	4.113268	0.77210	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.61627	0.09;0.11	5.56	5.56	0.83823	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	N	0.08118	0	0.80722	D	1	P;B	0.50156	0.932;0.005	P;B	0.50708	0.648;0.003	T	0.39292	-0.9621	10	0.13853	T	0.58	.	16.6742	0.85274	0.0:0.0:1.0:0.0	.	319;318	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	H	319;318	ENSP00000317971:Q319H;ENSP00000355317:Q318H	ENSP00000317971:Q319H	Q	+	3	2	WDTC1	27496133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.999000	0.63934	2.618000	0.88619	0.655000	0.94253	CAG		0.542	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015023		6	45	0	0	0	0.001984	0	6	45		
USP24	23358	broad.mit.edu	37	1	55638085	55638085	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:55638085G>C	ENST00000294383.6	-	4	666	c.667C>G	c.(667-669)Cca>Gca	p.P223A	USP24_ENST00000407756.1_Missense_Mutation_p.P111A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	223					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTGGGAATTGGATCTTGTTTT	0.358																																						uc001cyg.3		NaN																	0				ovary(6)|kidney(6)|breast(1)	13						c.(331-333)CCA>GCA		ubiquitin specific protease 24							111.0	102.0	105.0					1																	55638085		1841	4094	5935	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55638085G>C	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.667C>G	1.37:g.55638085G>C	ENSP00000294383:p.Pro223Ala						p.P111A	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			3	331	-			223					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.331C>G	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088939	0.55968	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.37058	1.22;1.22	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	L	0.54323	1.7	0.47819	D	0.99952	B	0.23591	0.088	B	0.26310	0.068	T	0.09552	-1.0669	10	0.13853	T	0.58	.	14.8679	0.70430	0.0:0.0:0.8564:0.1436	.	111	B7WPF4	.	A	223;111	ENSP00000294383:P223A;ENSP00000385700:P111A	ENSP00000294383:P223A	P	-	1	0	USP24	55410673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.402000	0.79972	2.739000	0.93911	0.585000	0.79938	CCA		0.358	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2				4	13	0	0	0	0.014758	0	4	13		
C8A	731	broad.mit.edu	37	1	57351743	57351743	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:57351743C>T	ENST00000361249.3	+	7	1095	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	333	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATGCCAAGTTCATCAATGACT	0.398																																						uc001cyo.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(997-999)TTC>TTT		complement component 8, alpha polypeptide							127.0	102.0	111.0					1																	57351743		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57351743C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.999C>T	1.37:g.57351743C>T							p.F333F	NM_000562	NP_000553	P07357	CO8A_HUMAN			7	1131	+			333			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.999C>T	CCDS606.1																																																																																				0.398	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1		NM_000562		24	38	0	0	0	0.014323	0	24	38		
ATXN7L2	127002	broad.mit.edu	37	1	110029160	110029160	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:110029160G>A	ENST00000369870.3	+	3	241	c.226G>A	c.(226-228)Gat>Aat	p.D76N		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	76										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCTGCCCATGATGACTTCTA	0.542																																						uc001dxr.2		NaN																	0				ovary(2)	2						c.(226-228)GAT>AAT		ataxin 7-like 2							70.0	57.0	61.0					1																	110029160		2203	4300	6503	SO:0001583	missense	127002							g.chr1:110029160G>A	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.226G>A	1.37:g.110029160G>A	ENSP00000358886:p.Asp76Asn					ATXN7L2_uc001dxs.2_5'Flank	p.D76N	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	3	241	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	76						Missense_Mutation	SNP	ENST00000369870.3	37	c.226G>A	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783749	0.90282	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.31769	1.48	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000016	T	0.45975	0.1369	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.49485	-0.8935	10	0.87932	D	0	-12.1933	16.801	0.85614	0.0:0.0:1.0:0.0	.	76	Q5T6C5	AT7L2_HUMAN	N	76	ENSP00000358886:D76N	ENSP00000358886:D76N	D	+	1	0	ATXN7L2	109830683	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.243000	0.95416	2.346000	0.79739	0.484000	0.47621	GAT		0.542	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1		NM_153340		13	24	0	0	0	0.016723	0	13	24		
ATXN7L2	127002	broad.mit.edu	37	1	110029717	110029717	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:110029717G>C	ENST00000369870.3	+	4	402	c.387G>C	c.(385-387)gtG>gtC	p.V129V		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	129										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCATGTAGTGAATGGGCAGG	0.637																																						uc001dxr.2		NaN																	0				ovary(2)	2						c.(385-387)GTG>GTC		ataxin 7-like 2							24.0	28.0	26.0					1																	110029717		2202	4300	6502	SO:0001819	synonymous_variant	127002							g.chr1:110029717G>C	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.387G>C	1.37:g.110029717G>C						ATXN7L2_uc001dxs.2_5'Flank	p.V129V	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	4	402	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	129						Silent	SNP	ENST00000369870.3	37	c.387G>C	CCDS30794.1																																																																																				0.637	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1		NM_153340		8	7	0	0	0	0.00308	0	8	7		
NOTCH2	4853	broad.mit.edu	37	1	120510124	120510124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:120510124G>C	ENST00000256646.2	-	8	1604	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	462	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.S462*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGGGTCTGAATGGCACTC	0.507			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Nonsense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1384-1386)TCA>TGA		notch 2 preproprotein							180.0	158.0	166.0					1																	120510124		2203	4300	6503	SO:0001587	stop_gained	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510124G>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1385C>G	1.37:g.120510124G>C	ENSP00000256646:p.Ser462*					NOTCH2_uc001eil.2_Nonsense_Mutation_p.S462*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.S379*	p.S462*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1641	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	462			Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.1385C>G	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	41	8.921634	0.99004	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	.	.	.	5.71	5.71	0.89125	.	0.000000	0.32593	U	0.005898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.8332	0.92150	0.0:0.0:1.0:0.0	.	.	.	.	X	462;423	.	ENSP00000256646:S462X	S	-	2	0	NOTCH2	120311647	1.000000	0.71417	0.814000	0.32528	0.925000	0.55904	9.476000	0.97823	2.698000	0.92095	0.650000	0.86243	TCA		0.507	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		14	72	0	0	0	0.016723	0	14	72		
RUSC1	23623	broad.mit.edu	37	1	155290718	155290718	+	5'UTR	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:155290718C>T	ENST00000368352.5	+	0	1				RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_5'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTCTGTGCCCCGCCGGGCGGG	0.726																																						uc001fki.2		NaN																	0					0						c.(562-564)GGG>AGG		hypothetical protein LOC284618							17.0	21.0	20.0					1																	155290718		1882	4080	5962	SO:0001623	5_prime_UTR_variant	284618							g.chr1:155290718C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-151C>T	1.37:g.155290718C>T						RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'UTR|RUSC1_uc001fkk.2_5'UTR|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	p.G188R	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	839	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		188					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.562G>A	CCDS41410.1																																																																																				0.726	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1				3	11	0	0	0	0.004672	0	3	11		
VSIG8	391123	broad.mit.edu	37	1	159825827	159825827	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:159825827G>A	ENST00000368100.1	-	6	952	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	C1orf204_ENST00000491974.1_5'Flank|C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	273						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					AGCGCGAGCAGAGAGCCCAGG	0.692																																						uc001fuh.2		NaN																	0				central_nervous_system(1)	1						c.(817-819)CTG>TTG		V-set and immunoglobulin domain containing 8							22.0	27.0	26.0					1																	159825827		2199	4300	6499	SO:0001819	synonymous_variant	391123					integral to membrane		g.chr1:159825827G>A		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.817C>T	1.37:g.159825827G>A						C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank	p.L273L	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN			6	953	-	all_hematologic(112;0.0597)		273			Helical; (Potential).		Q5VU14	Silent	SNP	ENST00000368100.1	37	c.817C>T	CCDS30913.1																																																																																				0.692	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8		NM_001013661		8	8	0	0	0	0.006214	0	8	8		
PRG4	10216	broad.mit.edu	37	1	186276451	186276451	+	Missense_Mutation	SNP	A	A	C	rs549460989	byFrequency	TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:186276451A>C	ENST00000445192.2	+	7	1645	c.1600A>C	c.(1600-1602)Acc>Ccc	p.T534P	PRG4_ENST00000367483.4_Missense_Mutation_p.T493P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T491P|PRG4_ENST00000367485.4_Missense_Mutation_p.T441P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	534	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACTACCAAGGAGCC	0.632													-|||	19	0.00379393	0.0023	0.0043	5008	,	,		6988	0.004		0.005	False		,,,				2504	0.0041					uc001gru.3		NaN																	0				skin(1)	1						c.(1600-1602)ACC>CCC		proteoglycan 4 isoform A							135.0	121.0	126.0					1																	186276451		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276451A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1600A>C	1.37:g.186276451A>C	ENSP00000399679:p.Thr534Pro					PRG4_uc001grt.3_Missense_Mutation_p.T493P|PRG4_uc009wyl.2_Missense_Mutation_p.T441P|PRG4_uc009wym.2_Missense_Mutation_p.T400P|PRG4_uc010poo.1_Intron	p.T534P	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1651	+			534			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|24; approximate.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1600A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	a	3.488	-0.104447	0.06967	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05382	3.47;3.58;3.45;3.54	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02380	0.0073	N	0.02916	-0.46	0.09310	N	0.999996	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;0.001	T	0.46048	-0.9219	8	.	.	.	.	11.4218	0.49987	0.2019:0.69:0.0:0.1082	.	400;441;534;493	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	491;400;493;441;534	ENSP00000356456:T491P;ENSP00000356453:T493P;ENSP00000356455:T441P;ENSP00000399679:T534P	.	T	+	1	0	PRG4	184543074	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-3.298000	0.00193	0.000000	0.15137	ACC		0.632	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807		7	51	0	0	0	0.013537	0	7	51		
CFH	3075	broad.mit.edu	37	1	196697596	196697596	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:196697596G>T	ENST00000367429.4	+	15	2597	c.2357G>T	c.(2356-2358)gGa>gTa	p.G786V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	786	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAAAAGAAGGATGGATACAC	0.318																																						uc001gtj.3		NaN																	0				skin(4)|ovary(1)|breast(1)	6						c.(2356-2358)GGA>GTA		complement factor H isoform a precursor							111.0	102.0	105.0					1																	196697596		2203	4299	6502	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196697596G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2357G>T	1.37:g.196697596G>T	ENSP00000356399:p.Gly786Val						p.G786V	NM_000186	NP_000177	P08603	CFAH_HUMAN			15	2597	+			786			Sushi 13.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2357G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	A	8.890	0.953868	0.18431	.	.	ENSG00000000971	ENST00000367429	T	0.32988	1.43	4.73	1.02	0.19986	Sushi/SCR/CCP (2);	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.27297	-1.0078	9	0.30078	T	0.28	.	3.4366	0.07448	0.645:0.0:0.1891:0.1659	.	786	P08603	CFAH_HUMAN	V	786	ENSP00000356399:G786V	ENSP00000356399:G786V	G	+	2	0	CFH	194964219	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.782000	0.26788	-0.017000	0.14103	-0.606000	0.04082	GGA		0.318	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2		NM_000186		9	25	1	0	0.000442599	0.006214	0.000452892	9	25		
CR1L	1379	broad.mit.edu	37	1	207850763	207850763	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:207850763T>A	ENST00000508064.2	+	2	187	c.127T>A	c.(127-129)Ttt>Att	p.F43I	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	43	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGGCTTCCATTTGCCAGGCC	0.413																																						uc001hga.3		NaN																	0					0						c.(127-129)TTT>ATT		complement component (3b/4b) receptor 1-like							127.0	120.0	122.0					1																	207850763		1895	4098	5993	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207850763T>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.127T>A	1.37:g.207850763T>A	ENSP00000421736:p.Phe43Ile					CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	p.F43I	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN			2	248	+			43			Sushi 1.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.127T>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552637	0.65425	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.49720	0.77	2.55	2.55	0.30701	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.70378	0.3217	M	0.90977	3.165	0.20563	N	0.999885	D	0.89917	1.0	D	0.83275	0.996	T	0.56757	-0.7926	9	0.52906	T	0.07	.	6.9875	0.24737	0.0:0.0:0.0:1.0	.	43	Q2VPA4	CR1L_HUMAN	I	43	ENSP00000421736:F43I	ENSP00000437875:F43I	F	+	1	0	CR1L	205917386	0.378000	0.25114	0.535000	0.28026	0.272000	0.26649	2.499000	0.45372	1.401000	0.46761	0.329000	0.21502	TTT		0.413	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1		XM_114735		8	61	0	0	0	0.004482	0	8	61		
KCNH1	3756	broad.mit.edu	37	1	211192470	211192470	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:211192470G>A	ENST00000271751.4	-	6	714	c.687C>T	c.(685-687)ttC>ttT	p.F229F	KCNH1_ENST00000367007.4_Silent_p.F229F			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	229					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCTGTATAGAAGGTCAAGA	0.438																																						uc001hib.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(685-687)TTC>TTT		potassium voltage-gated channel, subfamily H,							98.0	92.0	94.0					1																	211192470		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192470G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.687C>T	1.37:g.211192470G>A						KCNH1_uc001hic.2_Silent_p.F229F	p.F229F	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	857	-			229			Helical; Name=Segment S1; (Potential).		B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.687C>T	CCDS1496.1																																																																																				0.438	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1		NM_002238		18	33	0	0	0	0.006122	0	18	33		
CAPN9	10753	broad.mit.edu	37	1	230903408	230903408	+	Silent	SNP	C	C	T	rs147002278		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:230903408C>T	ENST00000271971.2	+	5	771	c.658C>T	c.(658-660)Cta>Tta	p.L220L	CAPN9_ENST00000354537.1_Silent_p.L220L|CAPN9_ENST00000366666.2_Silent_p.L157L|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	220	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTATGAGATTCTAGAGAAGGC	0.547																																						uc001htz.1		NaN																	0				ovary(1)	1						c.(658-660)CTA>TTA		calpain 9 isoform 1							105.0	112.0	110.0					1																	230903408		2203	4300	6503	SO:0001819	synonymous_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230903408C>T	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.658C>T	1.37:g.230903408C>T						CAPN9_uc009xfg.1_Silent_p.L157L|CAPN9_uc001hua.1_Silent_p.L220L	p.L220L	NM_006615	NP_006606	O14815	CAN9_HUMAN			5	771	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	220			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	c.658C>T	CCDS1586.1																																																																																				0.547	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1		NM_006615		15	65	0	0	0	0.004007	0	15	65		
TUBAL3	79861	broad.mit.edu	37	10	5437320	5437320	+	Silent	SNP	G	G	A	rs144348755		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:5437320G>A	ENST00000380419.3	-	3	403	c.366C>T	c.(364-366)atC>atT	p.I122I	TUBAL3_ENST00000479328.1_Silent_p.I82I	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	122					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.I122I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GCACAAGGTCGATGACCTCCG	0.622																																						uc001ihy.2		NaN																	1	Substitution - coding silent(1)		prostate(1)	skin(1)	1						c.(364-366)ATC>ATT		tubulin, alpha-like 3		G	,	2,4404	4.2+/-10.8	0,2,2201	107.0	101.0	103.0		246,366	0.0	0.0	10	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TUBAL3	NM_001171864.1,NM_024803.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	82/407,122/447	5437320	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5437320G>A	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.366C>T	10.37:g.5437320G>A						TUBAL3_uc001ihz.2_Silent_p.I82I	p.I122I	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN			3	406	-			122					B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	ENST00000380419.3	37	c.366C>T	CCDS7066.2																																																																																				0.622	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2		NM_024803		42	67	0	0	0	0.009718	0	42	67		
NRP1	8829	broad.mit.edu	37	10	33469270	33469270	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:33469270C>T	ENST00000265371.4	-	18	3031	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	NRP1_ENST00000395995.1_Missense_Mutation_p.E819K|NRP1_ENST00000374875.1_Missense_Mutation_p.E648K|NRP1_ENST00000374867.2_Missense_Mutation_p.E836K			O14786	NRP1_HUMAN	neuropilin 1	836					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|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)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|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)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTTCTCCTTCACCTTCGTAT	0.488																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2506-2508)GAA>AAA		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						237.0	212.0	221.0					10																	33469270		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33469270C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2506G>A	10.37:g.33469270C>T	ENSP00000265371:p.Glu836Lys					NRP1_uc001iwv.3_Missense_Mutation_p.E819K|NRP1_uc009xlz.2_Missense_Mutation_p.E830K|NRP1_uc001iww.3_Missense_Mutation_p.E648K|NRP1_uc001iwy.3_Missense_Mutation_p.E829K	p.E836K	NM_003873	NP_003864	O14786	NRP1_HUMAN			17	3029	-			836			Extracellular (Potential).		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.2506G>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	9.305	1.054075	0.19907	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000413802;ENST00000395995	D;D;D;D	0.93659	-2.14;-3.26;-2.14;-2.14	5.9	-6.51	0.01878	.	1.152290	0.05985	N	0.644955	D	0.82486	0.5047	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B;B	0.15141	0.002;0.005;0.002;0.004;0.012	B;B;B;B;B	0.11329	0.002;0.002;0.002;0.003;0.006	T	0.70898	-0.4747	10	0.16420	T	0.52	9.3061	3.2457	0.06796	0.1054:0.3744:0.3209:0.1993	.	830;836;836;648;819	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	K	836;648;836;18;819	ENSP00000265371:E836K;ENSP00000364009:E648K;ENSP00000364001:E836K;ENSP00000379317:E819K	ENSP00000265371:E836K	E	-	1	0	NRP1	33509276	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-0.980000	0.03770	-1.316000	0.02295	0.655000	0.94253	GAA		0.488	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2				50	73	0	0	0	0.01441	0	50	73		
RBP3	5949	broad.mit.edu	37	10	48388414	48388414	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:48388414C>T	ENST00000224600.4	-	1	2577	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	822	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTCCACACCTCCGTGACTTTT	0.617																																						uc001jez.2		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2464-2466)GAG>AAG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						23.0	22.0	22.0					10																	48388414		2202	4297	6499	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388414C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2464G>A	10.37:g.48388414C>T	ENSP00000224600:p.Glu822Lys						p.E822K	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2578	-			822			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2464G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	7.018	0.558072	0.13436	.	.	ENSG00000107618	ENST00000224600	T	0.64085	-0.08	4.68	3.78	0.43462	Interphotoreceptor retinol-binding (2);	0.266526	0.34828	N	0.003648	T	0.49813	0.1579	L	0.28694	0.88	0.45464	D	0.998436	B	0.10296	0.003	B	0.13407	0.009	T	0.50659	-0.8802	10	0.87932	D	0	-18.4616	11.8367	0.52327	0.0:0.9155:0.0:0.0845	.	822	P10745	RET3_HUMAN	K	822	ENSP00000224600:E822K	ENSP00000224600:E822K	E	-	1	0	RBP3	48008420	0.994000	0.37717	0.637000	0.29366	0.016000	0.09150	3.161000	0.50747	1.200000	0.43188	0.561000	0.74099	GAG		0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1		NM_002900		4	33	0	0	0	0.014758	0	4	33		
ADAMTS14	140766	broad.mit.edu	37	10	72496495	72496495	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:72496495C>T	ENST00000373207.1	+	10	1545	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	ADAMTS14_ENST00000373208.1_Silent_p.F518F	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	515	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCCGTACTTCTGCAAGACCA	0.622																																						uc001jrh.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1543-1545)TTC>TTT		ADAM metallopeptidase with thrombospondin type 1							92.0	81.0	85.0					10																	72496495		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72496495C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1545C>T	10.37:g.72496495C>T						ADAMTS14_uc001jrg.2_Silent_p.F518F|ADAMTS14_uc001jri.1_Silent_p.F38F	p.F515F	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			10	1545	+			515			Disintegrin.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.1545C>T	CCDS7306.1																																																																																				0.622	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1		NM_080722		21	26	0	0	0	0.016522	0	21	26		
ANKRD1	27063	broad.mit.edu	37	10	92672725	92672725	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:92672725C>A	ENST00000371697.3	-	9	1106	c.858G>T	c.(856-858)aaG>aaT	p.K286N		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	286					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CCATCGGCGTCTTCCCAGCCT	0.448																																						uc001khe.1		NaN																	0					0						c.(856-858)AAG>AAT		cardiac ankyrin repeat protein							196.0	180.0	185.0					10																	92672725		2203	4300	6503	SO:0001583	missense	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92672725C>A	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.858G>T	10.37:g.92672725C>A	ENSP00000360762:p.Lys286Asn						p.K286N	NM_014391	NP_055206	Q15327	ANKR1_HUMAN			9	1106	-		Colorectal(252;0.0475)	286			ANK 5.		Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	c.858G>T	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895937	0.72639	.	.	ENSG00000148677	ENST00000371697	T	0.54866	0.55	6.06	5.06	0.68205	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	L	0.34521	1.04	0.58432	D	0.999999	D	0.63046	0.992	D	0.64321	0.924	T	0.45498	-0.9257	10	0.27082	T	0.32	.	7.3759	0.26829	0.0:0.8212:0.0:0.1788	.	286	Q15327	ANKR1_HUMAN	N	286	ENSP00000360762:K286N	ENSP00000360762:K286N	K	-	3	2	ANKRD1	92662705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.293000	0.43558	2.882000	0.98803	0.655000	0.94253	AAG		0.448	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1		NM_014391		34	49	1	0	7.11191e-15	0.013726	7.72652e-15	34	49		
NFKB2	4791	broad.mit.edu	37	10	104156527	104156527	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr10:104156527G>A	ENST00000369966.3	+	5	440	c.190G>A	c.(190-192)Gga>Aga	p.G64R	NFKB2_ENST00000189444.6_Missense_Mutation_p.G64R|NFKB2_ENST00000428099.1_Missense_Mutation_p.G64R	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	64	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CTCCCATGGAGGACTGCCCGG	0.592			T	IGH@	B-NHL																																	uc001kvb.2		NaN		Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				lung(3)	3						c.(190-192)GGA>AGA		nuclear factor of kappa light polypeptide gene							79.0	81.0	80.0					10																	104156527		2036	4165	6201	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104156527G>A	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.190G>A	10.37:g.104156527G>A	ENSP00000358983:p.Gly64Arg					NFKB2_uc001kva.2_Missense_Mutation_p.G64R|NFKB2_uc010qqk.1_Missense_Mutation_p.G64R|NFKB2_uc001kvd.2_Missense_Mutation_p.G64R|NFKB2_uc009xxc.2_Missense_Mutation_p.G64R	p.G64R	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	5	455	+		Colorectal(252;0.00957)	64			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.190G>A	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294216	0.81025	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.49139	0.79;0.79;0.79	5.15	4.24	0.50183	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.057197	0.64402	N	0.000001	T	0.67439	0.2893	M	0.79123	2.44	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71108	-0.4688	10	0.87932	D	0	.	11.6909	0.51514	0.0823:0.0:0.9177:0.0	.	64;64;64	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	R	64	ENSP00000410256:G64R;ENSP00000358983:G64R;ENSP00000189444:G64R	ENSP00000189444:G64R	G	+	1	0	NFKB2	104146517	1.000000	0.71417	0.981000	0.43875	0.923000	0.55619	6.486000	0.73629	1.145000	0.42336	0.561000	0.74099	GGA		0.592	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2				6	76	0	0	0	0.001984	0	6	76		
NAP1L4	4676	broad.mit.edu	37	11	2975819	2975819	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:2975819C>T	ENST00000380542.4	-	12	1113	c.973G>A	c.(973-975)Gag>Aag	p.E325K	NAP1L4_ENST00000526115.1_Missense_Mutation_p.E325K	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	325					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		ACTATCCGCTCACGGAAAAAG	0.483																																						uc001lxc.2		NaN																	0				ovary(1)	1						c.(973-975)GAG>AAG		nucleosome assembly protein 1-like 4							60.0	61.0	61.0					11																	2975819		1881	4101	5982	SO:0001583	missense	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2975819C>T	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.973G>A	11.37:g.2975819C>T	ENSP00000369915:p.Glu325Lys					NAP1L4_uc001lxb.2_5'Flank|NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Missense_Mutation_p.E325K|NAP1L4_uc010qxn.1_Missense_Mutation_p.E325K	p.E325K	NM_005969	NP_005960	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	12	1114	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	325					B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	c.973G>A	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111163	0.94339	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	T;T	0.49139	0.79;0.79	4.63	3.71	0.42584	.	0.052578	0.85682	D	0.000000	T	0.74876	0.3774	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	T	0.82236	-0.0557	10	0.72032	D	0.01	-8.8804	14.7535	0.69546	0.0:0.8545:0.1455:0.0	.	325;325	F5HFY4;Q99733	.;NP1L4_HUMAN	K	325	ENSP00000369915:E325K;ENSP00000436397:E325K	ENSP00000369915:E325K	E	-	1	0	NAP1L4	2932395	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	7.128000	0.77217	1.136000	0.42199	0.650000	0.86243	GAG		0.483	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3		NM_005969		11	30	0	0	0	0.010729	0	11	30		
C11orf40	143501	broad.mit.edu	37	11	4593489	4593489	+	Missense_Mutation	SNP	G	G	C	rs141444146		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:4593489G>C	ENST00000307616.1	-	3	343	c.344C>G	c.(343-345)tCt>tGt	p.S115C		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	115										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCAGGAAATAGAGATTCCACT	0.458																																						uc010qyg.1		NaN																	0				ovary(2)	2						c.(343-345)TCT>TGT		hypothetical protein LOC143501							115.0	106.0	109.0					11																	4593489		2201	4298	6499	SO:0001583	missense	143501							g.chr11:4593489G>C		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.344C>G	11.37:g.4593489G>C	ENSP00000302918:p.Ser115Cys						p.S115C	NM_144663	NP_653264	Q8WZ69	CK040_HUMAN		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	3	344	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	115						Missense_Mutation	SNP	ENST00000307616.1	37	c.344C>G	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	g	2.071	-0.413041	0.04799	.	.	ENSG00000171987	ENST00000307616	T	0.55234	0.53	0.977	-1.95	0.07548	.	.	.	.	.	T	0.26702	0.0653	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.10314	-1.0635	9	0.87932	D	0	.	3.2797	0.06911	0.0:0.4214:0.2614:0.3173	.	115	Q8WZ69	CK040_HUMAN	C	115	ENSP00000302918:S115C	ENSP00000302918:S115C	S	-	2	0	C11orf40	4550065	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-1.671000	0.01954	-1.464000	0.01902	-1.421000	0.01109	TCT		0.458	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1		NM_144663		11	27	0	0	0	0.013537	0	11	27		
FOLH1	2346	broad.mit.edu	37	11	49175904	49175904	+	Silent	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:49175904G>T	ENST00000256999.2	-	16	2024	c.1764C>A	c.(1762-1764)gcC>gcA	p.A588A	FOLH1_ENST00000340334.7_Silent_p.A573A|FOLH1_ENST00000533034.1_Silent_p.A573A|FOLH1_ENST00000343844.4_Silent_p.A280A|FOLH1_ENST00000356696.3_Silent_p.A588A	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	588					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CTATGGAATTGGCTAGCTCAA	0.383																																						uc001ngy.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1762-1764)GCC>GCA		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						98.0	79.0	86.0					11																	49175904		2201	4292	6493	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175904G>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1764C>A	11.37:g.49175904G>T						FOLH1_uc001ngx.2_Silent_p.A20A|FOLH1_uc001ngz.2_Silent_p.A588A|FOLH1_uc009yly.2_Silent_p.A573A|FOLH1_uc009ylz.2_Silent_p.A573A|FOLH1_uc009yma.2_Silent_p.A280A	p.A588A	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			16	2025	-			588			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1764C>A	CCDS7946.1																																																																																				0.383	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1		NM_004476		7	42	1	0	2.27111e-07	0.013537	2.40792e-07	7	42		
OR5D18	219438	broad.mit.edu	37	11	55587651	55587651	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:55587651C>G	ENST00000333976.4	+	1	566	c.546C>G	c.(544-546)ttC>ttG	p.F182L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F182L(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)				TCTGTGAGTTCTCCTCACTAC	0.428																																						uc010rin.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	skin(2)|ovary(1)	3						c.(544-546)TTC>TTG		olfactory receptor, family 5, subfamily D,							222.0	201.0	208.0					11																	55587651		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587651C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.546C>G	11.37:g.55587651C>G	ENSP00000335025:p.Phe182Leu						p.F182L	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	546	+		all_epithelial(135;0.208)	182			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.546C>G	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.452437	0.00175	.	.	ENSG00000186119	ENST00000333976	T	0.35605	1.3	4.85	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.371554	0.20025	N	0.100833	T	0.08358	0.0208	N	0.01128	-1	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.30504	-0.9976	10	0.06625	T	0.88	-17.1055	2.0126	0.03491	0.1722:0.4769:0.1692:0.1816	.	182	Q8NGL1	OR5DI_HUMAN	L	182	ENSP00000335025:F182L	ENSP00000335025:F182L	F	+	3	2	OR5D18	55344227	0.000000	0.05858	0.644000	0.29465	0.082000	0.17680	-2.938000	0.00684	0.585000	0.29608	-1.932000	0.00510	TTC		0.428	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1		NM_001001952		29	76	0	0	0	0.008361	0	29	76		
TNKS1BP1	85456	broad.mit.edu	37	11	57080172	57080172	+	Missense_Mutation	SNP	C	C	G	rs199570057		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:57080172C>G	ENST00000532437.1	-	4	2301	c.1990G>C	c.(1990-1992)Gag>Cag	p.E664Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E664Q|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	664	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCTTGAGCCTCTGTCCTGGCT	0.642																																						uc001njr.2		NaN																	0				skin(1)	1						c.(1990-1992)GAG>CAG		tankyrase 1-binding protein 1							47.0	51.0	49.0					11																	57080172		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57080172C>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1990G>C	11.37:g.57080172C>G	ENSP00000437271:p.Glu664Gln					TNKS1BP1_uc001njs.2_Missense_Mutation_p.E664Q|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.E115Q	p.E664Q	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			4	2302	-		all_epithelial(135;0.21)	664			Pro-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.1990G>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612220	0.66672	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.41400	1.0;1.0	3.52	3.52	0.40303	.	0.231502	0.22460	N	0.059762	T	0.45316	0.1336	L	0.29908	0.895	0.28761	N	0.900883	D	0.67145	0.996	P	0.59948	0.866	T	0.30937	-0.9961	10	0.36615	T	0.2	-1.6195	12.0831	0.53682	0.0:1.0:0.0:0.0	.	664	Q9C0C2	TB182_HUMAN	Q	664	ENSP00000350990:E664Q;ENSP00000437271:E664Q	ENSP00000350990:E664Q	E	-	1	0	TNKS1BP1	56836748	0.009000	0.17119	0.851000	0.33527	0.769000	0.43574	1.801000	0.38843	1.819000	0.53055	0.455000	0.32223	GAG		0.642	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1		NM_033396		13	29	0	0	0	0.016723	0	13	29		
UBE2L6	9246	broad.mit.edu	37	11	57327878	57327878	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:57327878G>T	ENST00000287156.4	-	2	250	c.55C>A	c.(55-57)Ccc>Acc	p.P19T	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	19					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						AGGTATGGGGGAGGCTTCTTC	0.592																																						uc001nkn.1		NaN																	0				ovary(1)	1						c.(55-57)CCC>ACC		ubiquitin-conjugating enzyme E2L 6 isoform 1							166.0	138.0	147.0					11																	57327878		2201	4296	6497	SO:0001583	missense	9246				negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	g.chr11:57327878G>T	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.55C>A	11.37:g.57327878G>T	ENSP00000287156:p.Pro19Thr					UBE2L6_uc001nko.1_5'UTR	p.P19T	NM_004223	NP_004214	O14933	UB2L6_HUMAN			2	151	-			19					A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Missense_Mutation	SNP	ENST00000287156.4	37	c.55C>A	CCDS7960.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693324	0.30052	.	.	ENSG00000156587	ENST00000287156;ENST00000526659	T;T	0.74209	-0.82;-0.82	5.85	5.85	0.93711	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.52532	D	0.000073	D	0.82779	0.5111	M	0.73319	2.225	0.09310	N	1	D	0.69078	0.997	D	0.74023	0.982	T	0.76561	-0.2914	10	0.87932	D	0	.	7.9262	0.29876	0.0796:0.0:0.759:0.1613	.	19	O14933	UB2L6_HUMAN	T	19;26	ENSP00000287156:P19T;ENSP00000434348:P26T	ENSP00000287156:P19T	P	-	1	0	UBE2L6	57084454	0.484000	0.25964	0.173000	0.22940	0.011000	0.07611	1.988000	0.40697	2.761000	0.94854	0.655000	0.94253	CCC		0.592	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1		NM_004223		16	64	1	0	1.3612e-06	0.003163	1.42602e-06	16	64		
STIP1	10963	broad.mit.edu	37	11	63970354	63970354	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:63970354G>A	ENST00000305218.4	+	11	1399	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	STIP1_ENST00000358794.5_Missense_Mutation_p.E465K|STIP1_ENST00000538945.1_Missense_Mutation_p.E394K	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	418					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CTAGGACTGTGAGGAATGTAT	0.483																																						uc001nyk.1		NaN																	0				ovary(2)|liver(1)	3						c.(1252-1254)GAG>AAG		stress-induced-phosphoprotein 1							223.0	204.0	210.0					11																	63970354		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63970354G>A	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1252G>A	11.37:g.63970354G>A	ENSP00000305958:p.Glu418Lys					STIP1_uc010rnb.1_Missense_Mutation_p.E394K	p.E418K	NM_006819	NP_006810	P31948	STIP1_HUMAN			11	1399	+			418			TPR 8.		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.1252G>A	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	35	5.562084	0.96527	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000540887	T;T;T;T	0.62105	0.05;0.05;0.05;0.13	5.0	5.0	0.66597	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68458	0.3003	L	0.45137	1.4	0.80722	D	1	P;P	0.47034	0.889;0.833	P;P	0.54346	0.749;0.734	T	0.69495	-0.5130	10	0.51188	T	0.08	-41.7517	17.4505	0.87591	0.0:0.0:1.0:0.0	.	394;418	F5H0T1;P31948	.;STIP1_HUMAN	K	465;418;394;17	ENSP00000351646:E465K;ENSP00000305958:E418K;ENSP00000445957:E394K;ENSP00000443416:E17K	ENSP00000305958:E418K	E	+	1	0	STIP1	63726930	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.835000	0.92100	2.506000	0.84524	0.561000	0.74099	GAG		0.483	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2		NM_006819		23	68	0	0	0	0.01892	0	23	68		
PLCB3	5331	broad.mit.edu	37	11	64022383	64022383	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:64022383G>A	ENST00000540288.1	+	4	363	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	PLCB3_ENST00000279230.6_Missense_Mutation_p.R87Q|PLCB3_ENST00000325234.5_Intron	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	87					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCAAGATCCGGGAAGTTCTG	0.607																																						uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(259-261)CGG>CAG		phospholipase C beta 3							47.0	52.0	51.0					11																	64022383		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64022383G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.260G>A	11.37:g.64022383G>A	ENSP00000443631:p.Arg87Gln					PLCB3_uc009ypg.1_Missense_Mutation_p.R87Q|PLCB3_uc009yph.1_Intron|PLCB3_uc009ypi.2_Missense_Mutation_p.R87Q	p.R87Q	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			4	260	+			87					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.260G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.174979	0.78564	.	.	ENSG00000149782	ENST00000279230;ENST00000540288	T;T	0.47177	0.85;0.85	4.58	4.58	0.56647	.	0.376280	0.25683	N	0.028995	T	0.64394	0.2594	M	0.78344	2.41	0.80722	D	1	D	0.76494	0.999	P	0.55824	0.785	T	0.71048	-0.4705	10	0.66056	D	0.02	.	16.5403	0.84383	0.0:0.0:1.0:0.0	.	87	Q01970	PLCB3_HUMAN	Q	87	ENSP00000279230:R87Q;ENSP00000443631:R87Q	ENSP00000279230:R87Q	R	+	2	0	PLCB3	63778959	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.607000	0.61133	2.278000	0.76064	0.486000	0.48141	CGG		0.607	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				3	29	0	0	0	0.004672	0	3	29		
AIP	9049	broad.mit.edu	37	11	67257650	67257650	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:67257650G>A	ENST00000279146.3	+	4	728	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	204					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						CAAGTACTACGATGCCATTGC	0.607									Familial Isolated Pituitary Adenoma																													uc001olv.2		NaN																	0					0						c.(610-612)GAT>AAT		aryl hydrocarbon receptor interacting protein							101.0	81.0	87.0					11																	67257650		2200	4294	6494	SO:0001583	missense	9049	Familial_Isolated_Pituitary_Adenoma_	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	g.chr11:67257650G>A	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.610G>A	11.37:g.67257650G>A	ENSP00000279146:p.Asp204Asn						p.D204N	NM_003977	NP_003968	O00170	AIP_HUMAN			4	735	+			204			TPR 1.		A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	ENST00000279146.3	37	c.610G>A	CCDS8168.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014261	0.54468	.	.	ENSG00000110711	ENST00000528641;ENST00000279146	T;T	0.73681	-0.77;-0.77	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);	0.142450	0.64402	N	0.000006	T	0.56834	0.2012	N	0.04355	-0.22	0.53005	D	0.999964	B	0.13145	0.007	B	0.08055	0.003	T	0.53927	-0.8369	10	0.46703	T	0.11	-29.7683	18.0378	0.89309	0.0:0.0:1.0:0.0	.	204	O00170	AIP_HUMAN	N	141;204	ENSP00000434982:D141N;ENSP00000279146:D204N	ENSP00000279146:D204N	D	+	1	0	AIP	67014226	1.000000	0.71417	0.933000	0.37362	0.773000	0.43773	5.036000	0.64164	2.601000	0.87937	0.561000	0.74099	GAT		0.607	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1				10	23	0	0	0	0.013537	0	10	23		
SHANK2	22941	broad.mit.edu	37	11	70319408	70319408	+	Missense_Mutation	SNP	G	G	A	rs370486550		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:70319408G>A	ENST00000423696.2	-	16	4015	c.3979C>T	c.(3979-3981)Cgt>Tgt	p.R1327C	SHANK2_ENST00000409161.1_Missense_Mutation_p.R1110C|SHANK2_ENST00000449833.2_Missense_Mutation_p.R1111C|SHANK2_ENST00000338508.4_Missense_Mutation_p.R1707C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1327					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTGGGGCACGTCTTGTTCCT	0.642																																						uc001oqc.2		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(5116-5118)CGT>TGT		SH3 and multiple ankyrin repeat domains 2		G	CYS/ARG,CYS/ARG	0,4400		0,0,2200	53.0	53.0	53.0		4970,3352	5.9	0.9	11		53	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	SHANK2	NM_012309.3,NM_133266.3	180,180	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1706/1850,1118/1262	70319408	1,12987	2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319408G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3979C>T	11.37:g.70319408G>A	ENSP00000394536:p.Arg1327Cys					SHANK2_uc010rqn.1_Missense_Mutation_p.R1118C|SHANK2_uc001opz.2_Missense_Mutation_p.R1111C|uc009ysn.1_Intron|SHANK2_uc001opy.2_Missense_Mutation_p.R42C	p.R1706C	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	5194	-			1327					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5116C>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.585067	0.86748	0.0	1.16E-4	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.48836	2.1;2.13;2.85;0.8;2.23;2.26	5.91	5.91	0.95273	.	0.430704	0.28914	N	0.013721	T	0.64875	0.2638	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	P;D;P	0.64595	0.634;0.927;0.799	T	0.64694	-0.6347	10	0.87932	D	0	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1327;1706;1111	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	C	1111;1110;985;1707;1327;1345;1330	ENSP00000399423:R1111C;ENSP00000386491:R1110C;ENSP00000402944:R985C;ENSP00000345193:R1707C;ENSP00000394536:R1327C;ENSP00000294018:R1330C	ENSP00000294018:R1330C	R	-	1	0	SHANK2	69997056	0.989000	0.36119	0.876000	0.34364	0.995000	0.86356	4.122000	0.57910	2.799000	0.96334	0.650000	0.86243	CGT		0.642	SHANK2-203	KNOWN	basic	protein_coding	protein_coding			NM_012309		5	46	0	0	0	0.014758	0	5	46		
MOGAT2	80168	broad.mit.edu	37	11	75442218	75442218	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:75442218G>A	ENST00000198801.5	+	6	962	c.892G>A	c.(892-894)Gag>Aag	p.E298K	MOGAT2_ENST00000526712.1_Missense_Mutation_p.E216K	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	298					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GCATCCCTCGGAGGAGGAGGT	0.567																																						uc010rru.1		NaN																	0				ovary(2)	2						c.(892-894)GAG>AAG		monoacylglycerol O-acyltransferase 2							104.0	88.0	94.0					11																	75442218		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442218G>A	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.892G>A	11.37:g.75442218G>A	ENSP00000198801:p.Glu298Lys					MOGAT2_uc010rrv.1_Missense_Mutation_p.E216K	p.E298K	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			6	892	+	Ovarian(111;0.103)		298					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.892G>A	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523639	0.44866	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.12774	2.65;2.65	6.17	-3.72	0.04411	.	0.913607	0.09543	N	0.787961	T	0.06142	0.0159	N	0.17838	0.53	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.44787	-0.9305	10	0.11485	T	0.65	-2.9974	4.7062	0.12851	0.4441:0.2574:0.2298:0.0687	.	298	Q3SYC2	MOGT2_HUMAN	K	298;216	ENSP00000198801:E298K;ENSP00000436283:E216K	ENSP00000198801:E298K	E	+	1	0	MOGAT2	75119866	0.000000	0.05858	0.002000	0.10522	0.966000	0.64601	-0.929000	0.03976	-0.680000	0.05211	0.655000	0.94253	GAG		0.567	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1		NM_025098		18	39	0	0	0	0.00499	0	18	39		
PANX1	24145	broad.mit.edu	37	11	93911662	93911662	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:93911662A>G	ENST00000227638.3	+	3	834	c.449A>G	c.(448-450)tAc>tGc	p.Y150C	PANX1_ENST00000436171.2_Missense_Mutation_p.Y150C	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	150					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	GACAAAGTTTACAACCGTGCA	0.498																																						uc001per.2		NaN																	0					0						c.(448-450)TAC>TGC		pannexin 1							108.0	93.0	98.0					11																	93911662		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93911662A>G	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.449A>G	11.37:g.93911662A>G	ENSP00000227638:p.Tyr150Cys					PANX1_uc001peq.2_Missense_Mutation_p.Y150C	p.Y150C	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN			3	834	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	150			Cytoplasmic (Potential).		O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.449A>G	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413782	0.83449	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.32515	1.45;1.45	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69480	-0.5134	10	0.87932	D	0	-27.4903	15.0086	0.71533	1.0:0.0:0.0:0.0	.	150;150	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	C	150	ENSP00000227638:Y150C;ENSP00000411461:Y150C	ENSP00000227638:Y150C	Y	+	2	0	PANX1	93551310	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.771000	0.91751	1.945000	0.56424	0.460000	0.39030	TAC		0.498	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1		NM_015368		13	47	0	0	0	0.013537	0	13	47		
PHLDB1	23187	broad.mit.edu	37	11	118516477	118516477	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:118516477G>C	ENST00000361417.2	+	18	3852	c.3441G>C	c.(3439-3441)aaG>aaC	p.K1147N	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.K198N|PHLDB1_ENST00000356063.5_Missense_Mutation_p.K1100N|PHLDB1_ENST00000524713.1_Missense_Mutation_p.K290N	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1147										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACATGGGGAAGATCGAGGAGA	0.612																																						uc001ptr.1		NaN																	0					0						c.(3439-3441)AAG>AAC		pleckstrin homology-like domain, family B,							181.0	170.0	174.0					11																	118516477		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118516477G>C		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3441G>C	11.37:g.118516477G>C	ENSP00000354498:p.Lys1147Asn					PHLDB1_uc001pts.2_Missense_Mutation_p.K1147N|PHLDB1_uc001ptt.2_Missense_Mutation_p.K1100N|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.K962N|PHLDB1_uc001ptw.1_Missense_Mutation_p.K502N|PHLDB1_uc009zai.1_Missense_Mutation_p.K183N|PHLDB1_uc001ptx.1_Missense_Mutation_p.K183N|PHLDB1_uc010ryi.1_3'UTR	p.K1147N	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	18	3794	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1147			Potential.		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.3441G>C	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269611	0.80469	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.23	4.31	0.51392	.	0.155531	0.56097	D	0.000025	T	0.57036	0.2026	L	0.60455	1.87	0.49483	D	0.999794	P;D;D;P	0.65815	0.764;0.978;0.995;0.647	P;P;D;B	0.66196	0.597;0.772;0.942;0.397	T	0.54529	-0.8280	10	0.33141	T	0.24	-18.3331	13.9258	0.63961	0.0737:0.0:0.9263:0.0	.	511;906;1100;1147	B0YJ65;Q5W9G0;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	N	1147;921;511;1100;198;290	ENSP00000354498:K1147N;ENSP00000348359:K1100N;ENSP00000435388:K198N;ENSP00000434905:K290N	ENSP00000348359:K1100N	K	+	3	2	PHLDB1	118021687	1.000000	0.71417	0.960000	0.40013	0.966000	0.64601	3.488000	0.53229	1.193000	0.43086	0.563000	0.77884	AAG		0.612	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		NM_015157		21	46	0	0	0	0.012319	0	21	46		
PANX3	116337	broad.mit.edu	37	11	124482880	124482880	+	Silent	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:124482880T>C	ENST00000284288.2	+	2	253	c.186T>C	c.(184-186)tcT>tcC	p.S62S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	62					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTGCAGGGTCTCCGATCAGCT	0.572																																						uc001qah.2		NaN																	0					0						c.(184-186)TCT>TCC		pannexin 3							74.0	70.0	71.0					11																	124482880		2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124482880T>C	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.186T>C	11.37:g.124482880T>C							p.S62S	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	2	186	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	62			Extracellular (Potential).			Silent	SNP	ENST00000284288.2	37	c.186T>C	CCDS8447.1																																																																																				0.572	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1				15	41	0	0	0	0.003163	0	15	41		
CHD4	1108	broad.mit.edu	37	12	6691413	6691413	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:6691413C>G	ENST00000357008.2	-	30	4568	c.4405G>C	c.(4405-4407)Gag>Cag	p.E1469Q	CHD4_ENST00000309577.6_Missense_Mutation_p.E1497Q|SCARNA11_ENST00000516089.1_RNA|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544040.1_Missense_Mutation_p.E1462Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E1494Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1469					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCCCCCGGCTCACATAAATGC	0.473																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.(4405-4407)GAG>CAG		chromodomain helicase DNA binding protein 4							70.0	68.0	69.0					12																	6691413		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6691413C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4405G>C	12.37:g.6691413C>G	ENSP00000349508:p.Glu1469Gln					CHD4_uc001qpn.2_Missense_Mutation_p.E1462Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1494Q|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	p.E1469Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN			30	4569	-			1469					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4405G>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995829	0.74703	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.95482	-3.72;-3.47;-3.71;-3.47	5.76	5.76	0.90799	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.997;0.999;0.994	D	0.98541	1.0632	10	0.87932	D	0	-13.1312	19.9813	0.97326	0.0:1.0:0.0:0.0	.	1497;1469;1462	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1494;1462;1497;1469;1443	ENSP00000440392:E1494Q;ENSP00000440542:E1462Q;ENSP00000312419:E1497Q;ENSP00000349508:E1469Q	ENSP00000312419:E1497Q	E	-	1	0	CHD4	6561674	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.461000	0.80834	2.726000	0.93360	0.655000	0.94253	GAG		0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		10	54	0	0	0	0.008291	0	10	54		
PDE6H	5149	broad.mit.edu	37	12	15131027	15131027	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:15131027G>T	ENST00000266395.2	+	2	187	c.81G>T	c.(79-81)aaG>aaT	p.K27N		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	27	Arg/Lys-rich (basic).				activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|lung(6)|ovary(1)|skin(2)	10					Sildenafil(DB00203)|Vardenafil(DB00862)	CCAAGTTCAAGCAGAGGCAGA	0.483																																						uc001rcr.2		NaN																	0				ovary(1)|skin(1)	2						c.(79-81)AAG>AAT		phosphodiesterase 6H							58.0	54.0	56.0					12																	15131027		2203	4300	6503	SO:0001583	missense	5149				visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr12:15131027G>T		CCDS8672.1	12p13	2008-03-18					3.1.4.17	"""Phosphodiesterases"""	8790	protein-coding gene	gene with protein product		601190				8786098	Standard	NM_006205		Approved		uc001rcr.3	Q13956		ENST00000266395.2:c.81G>T	12.37:g.15131027G>T	ENSP00000266395:p.Lys27Asn						p.K27N	NM_006205	NP_006196	Q13956	CNCG_HUMAN			2	165	+			27			Arg/Lys-rich (basic).		Q52LY7	Missense_Mutation	SNP	ENST00000266395.2	37	c.81G>T	CCDS8672.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935723	0.92458	.	.	ENSG00000139053	ENST00000266395	T	0.57907	0.37	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.76564	-0.2913	9	0.87932	D	0	.	16.2338	0.82360	0.0:0.0:1.0:0.0	.	27	Q13956	CNCG_HUMAN	N	27	ENSP00000266395:K27N	ENSP00000266395:K27N	K	+	3	2	PDE6H	15022294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.054000	0.64275	2.686000	0.91538	0.655000	0.94253	AAG		0.483	PDE6H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400880.1				7	21	1	0	2.0095e-06	0.001984	2.09687e-06	7	21		
SLCO1B1	10599	broad.mit.edu	37	12	21391927	21391927	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:21391927G>T	ENST00000256958.2	+	15	1976	c.1880G>T	c.(1879-1881)gGc>gTc	p.G627V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	627					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTCTACTTGGGCTTGTCTTCA	0.279																																						uc001req.3		NaN																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1879-1881)GGC>GTC		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						45.0	50.0	48.0					12																	21391927		2176	4287	6463	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21391927G>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1880G>T	12.37:g.21391927G>T	ENSP00000256958:p.Gly627Val						p.G627V	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			15	1984	+			627			Extracellular (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1880G>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230824	0.39399	.	.	ENSG00000134538	ENST00000256958	T	0.55588	0.51	3.17	3.17	0.36434	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.060341	0.64402	D	0.000003	T	0.64159	0.2573	M	0.62723	1.935	0.25833	N	0.984148	D	0.63046	0.992	D	0.64595	0.927	T	0.54997	-0.8209	10	0.87932	D	0	.	10.0727	0.42343	0.0:0.0:1.0:0.0	.	627	Q9Y6L6	SO1B1_HUMAN	V	627	ENSP00000256958:G627V	ENSP00000256958:G627V	G	+	2	0	SLCO1B1	21283194	0.013000	0.17824	0.014000	0.15608	0.068000	0.16541	1.842000	0.39250	2.068000	0.61886	0.313000	0.20887	GGC		0.279	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1		NM_006446		8	31	1	0	0.00307968	0.00308	0.00312706	8	31		
CASC1	55259	broad.mit.edu	37	12	25302597	25302597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:25302597G>C	ENST00000320267.9	-	6	613	c.532C>G	c.(532-534)Ctt>Gtt	p.L178V	CASC1_ENST00000395987.3_Missense_Mutation_p.L184V|CASC1_ENST00000545133.1_Missense_Mutation_p.L119V|CASC1_ENST00000537577.1_Missense_Mutation_p.L66V|CASC1_ENST00000395990.2_Missense_Mutation_p.L138V|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000354189.5_Missense_Mutation_p.L242V	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	178										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CCGAATTTAAGATGAAGGAGC	0.284																																						uc001rgl.2		NaN																	0				ovary(2)	2						c.(532-534)CTT>GTT		cancer susceptibility candidate 1 isoform b							87.0	94.0	92.0					12																	25302597		2203	4297	6500	SO:0001583	missense	55259							g.chr12:25302597G>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.532C>G	12.37:g.25302597G>C	ENSP00000313141:p.Leu178Val					CASC1_uc001rgk.2_Missense_Mutation_p.L184V|CASC1_uc001rgm.3_Missense_Mutation_p.L242V|CASC1_uc001rgj.2_Missense_Mutation_p.L138V|CASC1_uc010sje.1_Missense_Mutation_p.L119V|CASC1_uc010sjf.1_Missense_Mutation_p.L66V|CASC1_uc010sjg.1_Missense_Mutation_p.L178V	p.L178V	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		6	614	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		178					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.532C>G	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.219|7.219	0.597056|0.597056	0.13875|0.13875	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133|ENST00000556006	T;T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59;1.59|.	5.96|5.96	-1.09|-1.09	0.09904|0.09904	.|.	0.833309|.	0.11179|.	N|.	0.591126|.	T|T	0.26085|0.26085	0.0636|0.0636	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	P;P;P;P;P|.	0.47910|.	0.763;0.763;0.902;0.651;0.763|.	B;B;B;B;B|.	0.36608|.	0.124;0.173;0.229;0.084;0.173|.	T|T	0.29427|0.29427	-1.0012|-1.0012	10|5	0.15499|.	T|.	0.54|.	-6.533|-6.533	0.9569|0.9569	0.01387|0.01387	0.3787:0.1528:0.3114:0.1571|0.3787:0.1528:0.3114:0.1571	.|.	66;119;242;178;184|.	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;.;CASC1_HUMAN;.|.	V|C	242;184;178;138;66;184;119|153	ENSP00000346126:L242V;ENSP00000379310:L184V;ENSP00000313141:L178V;ENSP00000379313:L138V;ENSP00000444715:L66V;ENSP00000437373:L119V|.	ENSP00000313141:L178V|.	L|S	-|-	1|2	0|0	CASC1|CASC1	25193864|25193864	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.042000|0.042000	0.13812|0.13812	0.416000|0.416000	0.21198|0.21198	0.097000|0.097000	0.17492|0.17492	-0.242000|-0.242000	0.12053|0.12053	CTT|TCT		0.284	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1		NM_018272		10	34	0	0	0	0.008291	0	10	34		
KITLG	4254	broad.mit.edu	37	12	88900821	88900821	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:88900821C>G	ENST00000228280.5	-	7	880	c.698G>C	c.(697-699)gGa>gCa	p.G233A	KITLG_ENST00000347404.5_Missense_Mutation_p.G205A|KITLG_ENST00000357116.4_Missense_Mutation_p.G16A|KITLG_ENST00000378535.4_5'UTR	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	233					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GTATAAGGCTCCAAAAGCAAA	0.378									Testicular Cancer, Familial Clustering of																													uc001tav.2		NaN																	0				ovary(1)	1						c.(697-699)GGA>GCA		KIT ligand isoform b precursor							74.0	80.0	78.0					12																	88900821		2203	4300	6503	SO:0001583	missense	4254	Testicular_Cancer_Familial_Clustering_of	Familial Cancer Database		cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	g.chr12:88900821C>G	M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.698G>C	12.37:g.88900821C>G	ENSP00000228280:p.Gly233Ala					KITLG_uc009zsn.2_Intron|KITLG_uc001taw.2_Missense_Mutation_p.G205A|KITLG_uc009zso.1_RNA	p.G233A	NM_000899	NP_000890	P21583	SCF_HUMAN			7	881	-			233			Helical; (Potential).		A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	c.698G>C	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470675	0.84533	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.74842	-0.88;-0.88	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	D	0.85414	0.5691	M	0.65498	2.005	0.52099	D	0.999948	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85585	0.1242	10	0.56958	D	0.05	-10.8144	17.959	0.89079	0.0:1.0:0.0:0.0	.	205;233	P21583-2;P21583	.;SCF_HUMAN	A	198;233;205	ENSP00000228280:G233A;ENSP00000054216:G205A	ENSP00000228280:G233A	G	-	2	0	KITLG	87424952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.746000	0.62133	2.675000	0.91044	0.655000	0.94253	GGA		0.378	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2		NM_003994		5	40	0	0	0	0.001168	0	5	40		
ANO4	121601	broad.mit.edu	37	12	101510519	101510519	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:101510519G>C	ENST00000392977.3	+	25	2723	c.2513G>C	c.(2512-2514)cGa>cCa	p.R838P	ANO4_ENST00000299222.9_Missense_Mutation_p.R358P|ANO4_ENST00000550015.1_Missense_Mutation_p.R358P|ANO4_ENST00000392979.3_Missense_Mutation_p.R803P			Q32M45	ANO4_HUMAN	anoctamin 4	838					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R803Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTGAGAACCGATCTGAGCCT	0.507										HNSCC(74;0.22)																												uc010svm.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2512-2514)CGA>CCA		anoctamin 4							256.0	229.0	238.0					12																	101510519		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101510519G>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2513G>C	12.37:g.101510519G>C	ENSP00000376703:p.Arg838Pro	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.R803P|ANO4_uc001thx.2_Missense_Mutation_p.R838P|ANO4_uc001thy.2_Missense_Mutation_p.R358P	p.R838P	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			25	3085	+			838			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2513G>C		.	.	.	.	.	.	.	.	.	.	G	13.35	2.212394	0.39102	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69685	-0.42;-0.29;-0.42;-0.29	5.6	5.6	0.85130	.	0.165521	0.37809	N	0.001928	T	0.54078	0.1836	N	0.03608	-0.345	0.45962	D	0.998783	P;D;P	0.53885	0.729;0.963;0.777	B;P;P	0.54026	0.403;0.74;0.501	T	0.57843	-0.7741	10	0.29301	T	0.29	.	12.8993	0.58117	0.0742:0.0:0.9258:0.0	.	358;838;803	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	P	803;358;838;358	ENSP00000376705:R803P;ENSP00000299222:R358P;ENSP00000376703:R838P;ENSP00000450192:R358P	ENSP00000299222:R358P	R	+	2	0	ANO4	100034650	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	6.496000	0.73670	2.620000	0.88729	0.563000	0.77884	CGA		0.507	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1		NM_178826		29	87	0	0	0	0.007291	0	29	87		
MYBPC1	4604	broad.mit.edu	37	12	102060550	102060550	+	Silent	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:102060550T>C	ENST00000550270.1	+	21	2310	c.2310T>C	c.(2308-2310)aaT>aaC	p.N770N	MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000551300.1_Intron|MYBPC1_ENST00000549145.1_Silent_p.N783N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000452455.2_Silent_p.N770N|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000441232.1_Silent_p.N770N|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000360610.2_Silent_p.N770N|MYBPC1_ENST00000361466.2_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	770	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CTGATGAAAATGGGGAGGCTG	0.368																																						uc001tii.2		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(2308-2310)AAT>AAC		myosin binding protein C, slow type isoform 3							135.0	141.0	139.0					12																	102060550		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102060550T>C		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2310T>C	12.37:g.102060550T>C						MYBPC1_uc001tig.2_Intron|MYBPC1_uc010svq.1_Intron|MYBPC1_uc001tih.2_Intron|MYBPC1_uc001tij.2_Intron|MYBPC1_uc010svr.1_Intron|MYBPC1_uc010svs.1_Silent_p.N770N|MYBPC1_uc010svt.1_Intron|MYBPC1_uc010svu.1_Intron|MYBPC1_uc001tik.2_Intron|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	p.N770N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			21	2412	+			770			Fibronectin type-III 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.2310T>C	CCDS9085.1																																																																																				0.368	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1				12	59	0	0	0	0.013537	0	12	59		
ANAPC7	51434	broad.mit.edu	37	12	110825668	110825668	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:110825668C>G	ENST00000455511.3	-	5	652	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	ANAPC7_ENST00000450008.2_Missense_Mutation_p.E218Q|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GATGCCACCTCTGCCCCTTTT	0.473																																						uc001tqo.2		NaN																	0					0						c.(652-654)GAG>CAG		anaphase-promoting complex subunit 7 isoform a							105.0	82.0	90.0					12																	110825668		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110825668C>G	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.652G>C	12.37:g.110825668C>G	ENSP00000394394:p.Glu218Gln					ANAPC7_uc001tqp.3_Missense_Mutation_p.E218Q	p.E218Q	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN			5	653	-			218					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.652G>C	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820109	0.90873	.	.	ENSG00000196510;ENSG00000196510;ENSG00000258210	ENST00000455511;ENST00000450008;ENST00000550231	T;T	0.68903	-0.36;0.62	5.97	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.79263	0.4416	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.65815	0.989;0.995	D;P	0.70487	0.969;0.894	T	0.79325	-0.1850	10	0.42905	T	0.14	-15.1922	16.5356	0.84372	0.1319:0.8681:0.0:0.0	.	218;218	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	Q	218;218;117	ENSP00000394394:E218Q;ENSP00000402314:E218Q	ENSP00000402314:E218Q	E	-	1	0	RP11-478C19.2;ANAPC7	109310051	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.484000	0.81180	1.508000	0.48769	0.650000	0.86243	GAG		0.473	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3		NM_016238		9	14	0	0	0	0.006214	0	9	14		
DNAH10	196385	broad.mit.edu	37	12	124345622	124345622	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:124345622C>T	ENST00000409039.3	+	38	6484	c.6459C>T	c.(6457-6459)taC>taT	p.Y2153Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2153	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAGAACTCTACGGCATCCTGG	0.493																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6457-6459)TAC>TAT		dynein, axonemal, heavy chain 10							76.0	75.0	75.0					12																	124345622		1893	4129	6022	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124345622C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6459C>T	12.37:g.124345622C>T							p.Y2153Y	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	38	6484	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2153			AAA 2 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.6459C>T	CCDS9255.2																																																																																				0.493	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				11	46	0	0	0	0.010729	0	11	46		
FREM2	341640	broad.mit.edu	37	13	39263186	39263186	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr13:39263186C>A	ENST00000280481.7	+	1	1921	c.1705C>A	c.(1705-1707)Ctg>Atg	p.L569M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	569					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAACACGGGGCTGACACTGGC	0.547																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(1705-1707)CTG>ATG		FRAS1-related extracellular matrix protein 2							100.0	93.0	95.0					13																	39263186		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263186C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1705C>A	13.37:g.39263186C>A	ENSP00000280481:p.Leu569Met						p.L569M	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2014	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	569			CSPG 3.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1705C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542620	0.45280	.	.	ENSG00000150893	ENST00000280481	D	0.82984	-1.67	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	D	0.89969	0.6869	M	0.82716	2.605	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	D	0.90425	0.4420	10	0.62326	D	0.03	.	9.7808	0.40647	0.0:0.847:0.0:0.153	.	569	Q5SZK8	FREM2_HUMAN	M	569	ENSP00000280481:L569M	ENSP00000280481:L569M	L	+	1	2	FREM2	38161186	0.861000	0.29849	0.986000	0.45419	0.928000	0.56348	1.681000	0.37618	2.533000	0.85409	0.555000	0.69702	CTG		0.547	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		9	24	1	0	3.09899e-07	0.004482	3.27253e-07	9	24		
HAUS4	54930	broad.mit.edu	37	14	23419580	23419580	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:23419580C>G	ENST00000206474.7	-	6	757	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	HAUS4_ENST00000555367.1_Missense_Mutation_p.E124Q|HAUS4_ENST00000490506.1_Missense_Mutation_p.E45Q|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.E169Q|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000397409.4_Intron|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000342454.8_Missense_Mutation_p.E124Q|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000555986.1_Missense_Mutation_p.E124Q|RP11-298I3.5_ENST00000555074.1_Intron			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	169					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						AGCTGCTCCTCTACTTCTTGC	0.463																																						uc001whp.2		NaN																	0				ovary(1)	1						c.(505-507)GAG>CAG		HAUS augmin-like complex, subunit 4							140.0	113.0	122.0					14																	23419580		2203	4300	6503	SO:0001583	missense	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23419580C>G	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.505G>C	14.37:g.23419580C>G	ENSP00000206474:p.Glu169Gln					HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Intron|HAUS4_uc001whr.2_Missense_Mutation_p.E169Q|HAUS4_uc001whs.2_Missense_Mutation_p.E124Q|HAUS4_uc001wht.2_Missense_Mutation_p.E169Q|HAUS4_uc001whu.2_Missense_Mutation_p.E124Q|HAUS4_uc001whv.2_Missense_Mutation_p.E45Q|HAUS4_uc001whw.2_Missense_Mutation_p.E169Q|HAUS4_uc001whx.2_Missense_Mutation_p.E124Q	p.E169Q	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN			5	536	-			169					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	c.505G>C	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282961	0.80692	.	.	ENSG00000092036	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000556915;ENST00000554516	.	.	.	4.93	4.93	0.64822	.	0.105878	0.64402	D	0.000007	T	0.76104	0.3941	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.80764	0.991;0.994	T	0.78298	-0.2258	9	0.62326	D	0.03	-18.9379	15.0946	0.72223	0.0:1.0:0.0:0.0	.	124;169	Q9H6D7-4;Q9H6D7	.;HAUS4_HUMAN	Q	169;45;169;124;124;124;169;124;169	.	ENSP00000206474:E169Q	E	-	1	0	HAUS4	22489420	0.997000	0.39634	1.000000	0.80357	0.923000	0.55619	4.378000	0.59568	2.300000	0.77407	0.591000	0.81541	GAG		0.463	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3				8	26	0	0	0	0.00308	0	8	26		
KIAA0391	9692	broad.mit.edu	37	14	35592881	35592881	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:35592881A>G	ENST00000557565.1	+	2	811	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	KIAA0391_ENST00000534898.4_Missense_Mutation_p.I144V|KIAA0391_ENST00000250377.7_Missense_Mutation_p.I49V|KIAA0391_ENST00000603544.1_Missense_Mutation_p.I144V|KIAA0391_ENST00000604948.1_Missense_Mutation_p.I49V|KIAA0391_ENST00000605870.1_Intron|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000321130.10_Missense_Mutation_p.I144V|KIAA0391_ENST00000603588.1_Intron|PPP2R3C_ENST00000555644.1_5'Flank	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	144					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CGAAAGTTGGATCATTTCACA	0.398																																						uc001wsy.1		NaN																	0					0						c.(430-432)ATC>GTC		mitochondrial RNase P protein 3 precursor							102.0	106.0	105.0					14																	35592881		2203	4300	6503	SO:0001583	missense	9692				tRNA processing	mitochondrion		g.chr14:35592881A>G	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.430A>G	14.37:g.35592881A>G	ENSP00000454657:p.Ile144Val					KIAA0391_uc010tps.1_Missense_Mutation_p.I49V|KIAA0391_uc001wsz.1_Missense_Mutation_p.I144V|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.I144V|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	p.I144V	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	790	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		144					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	c.430A>G	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	A	2.813	-0.246511	0.05867	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121	T;T;T	0.42131	1.04;1.0;0.98	5.25	4.08	0.47627	.	0.127751	0.50627	N	0.000105	T	0.33644	0.0870	L	0.43701	1.375	0.32077	N	0.593711	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.009	T	0.34204	-0.9838	10	0.24483	T	0.36	-6.9779	11.2252	0.48880	0.9271:0.0:0.0729:0.0	.	144;144	O15091-2;O15091	.;MRRP3_HUMAN	V	49;49;144;144;144	ENSP00000250377:I49V;ENSP00000324697:I144V;ENSP00000440915:I144V	ENSP00000250377:I49V	I	+	1	0	KIAA0391	34662632	1.000000	0.71417	0.032000	0.17829	0.003000	0.03518	4.040000	0.57333	0.789000	0.33779	0.460000	0.39030	ATC		0.398	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1		NM_014672		9	64	0	0	0	0.004482	0	9	64		
SYNE2	23224	broad.mit.edu	37	14	64625483	64625483	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:64625483G>A	ENST00000344113.4	+	86	16145	c.15933G>A	c.(15931-15933)gaG>gaA	p.E5311E	SYNE2_ENST00000554584.1_Silent_p.E5228E|SYNE2_ENST00000394768.2_Silent_p.E1696E|SYNE2_ENST00000555002.1_Silent_p.E1945E|SYNE2_ENST00000357395.3_Silent_p.E1696E|SYNE2_ENST00000358025.3_Silent_p.E5311E|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5311					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATCATTGGAGACCTTGAGAT	0.433																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(15931-15933)GAG>GAA		spectrin repeat containing, nuclear envelope 2							117.0	105.0	109.0					14																	64625483		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64625483G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15933G>A	14.37:g.64625483G>A						SYNE2_uc001xgl.2_Silent_p.E5311E|SYNE2_uc010apy.2_Silent_p.E1696E|SYNE2_uc001xgn.2_Silent_p.E273E|SYNE2_uc001xgo.2_RNA|SYNE2_uc001xgp.2_Silent_p.E40E	p.E5311E	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	86	16163	+			5311			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.15933G>A	CCDS41963.1																																																																																				0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		12	25	0	0	0	0.016723	0	12	25		
STON2	85439	broad.mit.edu	37	14	81744349	81744349	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:81744349C>T	ENST00000267540.2	-	4	1506	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	STON2_ENST00000555447.1_Missense_Mutation_p.E436K|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	436	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTTTTCTTCTCAGGGATCCTC	0.527																																						uc010tvu.1		NaN																	0				skin(3)|pancreas(2)	5						c.(1306-1308)GAG>AAG		stonin 2							172.0	165.0	167.0					14																	81744349		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744349C>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1306G>A	14.37:g.81744349C>T	ENSP00000267540:p.Glu436Lys					STON2_uc001xvk.1_Missense_Mutation_p.E436K|STON2_uc010tvt.1_Missense_Mutation_p.E233K	p.E436K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1507	-			436			SHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.1306G>A	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050085	0.75846	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.13901	2.55;2.56	6.17	6.17	0.99709	Stonin homology (1);	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.68593	2.085	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.985;0.994	T	0.02226	-1.1192	10	0.72032	D	0.01	-27.293	20.8794	0.99867	0.0:1.0:0.0:0.0	.	436;436	Q8WXE9;G3V2T7	STON2_HUMAN;.	K	436;448;436	ENSP00000450857:E436K;ENSP00000267540:E436K	ENSP00000267540:E436K	E	-	1	0	STON2	80814102	1.000000	0.71417	0.993000	0.49108	0.407000	0.30961	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.527	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1		NM_033104		50	110	0	0	0	0.01441	0	50	110		
TECPR2	9895	broad.mit.edu	37	14	102898165	102898165	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:102898165G>C	ENST00000359520.7	+	8	1343	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	TECPR2_ENST00000558678.1_Missense_Mutation_p.E373Q	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	373					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TGGATGCTCAGAGCGTGTCCA	0.557																																						uc001ylw.1		NaN																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(1117-1119)GAG>CAG		tectonin beta-propeller repeat containing 2							87.0	88.0	88.0					14																	102898165		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102898165G>C	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1117G>C	14.37:g.102898165G>C	ENSP00000352510:p.Glu373Gln					TECPR2_uc010awl.2_Missense_Mutation_p.E373Q|TECPR2_uc010txx.1_Intron	p.E373Q	NM_014844	NP_055659	O15040	TCPR2_HUMAN			8	1265	+			373					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.1117G>C	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921014	0.52653	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.17054	2.3	5.23	4.33	0.51752	.	0.480151	0.23232	N	0.050457	T	0.36580	0.0972	M	0.61703	1.905	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.68353	0.941;0.957	T	0.12785	-1.0534	10	0.41790	T	0.15	.	13.6403	0.62246	0.0:0.155:0.845:0.0	.	373;373	A5PKY3;O15040	.;TCPR2_HUMAN	Q	373	ENSP00000352510:E373Q	ENSP00000352510:E373Q	E	+	1	0	TECPR2	101967918	0.568000	0.26635	0.019000	0.16419	0.028000	0.11728	1.922000	0.40045	1.323000	0.45263	-0.182000	0.12963	GAG		0.557	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2		NM_014844		25	70	0	0	0	0.01892	0	25	70		
XRCC3	7517	broad.mit.edu	37	14	104177481	104177481	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr14:104177481G>C	ENST00000553264.1	-	0	740				RP11-73M18.9_ENST00000602383.1_lincRNA|AL049840.1_ENST00000429169.1_5'Flank|XRCC3_ENST00000554913.1_De_novo_Start_OutOfFrame|XRCC3_ENST00000555055.1_De_novo_Start_OutOfFrame|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000352127.7_De_novo_Start_OutOfFrame|XRCC3_ENST00000445556.1_De_novo_Start_OutOfFrame			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3						cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CAGAACAATGGATGCAAATTC	0.527								Direct reversal of damage;Homologous recombination																														uc001yny.3		NaN																	0					0						c.(-58--54)ATCCA>ATGCA	Direct_reversal_of_damage|Homologous_recombination	X-ray repair cross complementing protein 3							80.0	68.0	71.0					14																	104177481		692	1591	2283			7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104177481G>C	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.-57C>G	14.37:g.104177481G>C						XRCC3_uc001ynx.3_Translation_Start_Site|XRCC3_uc001ynz.3_Translation_Start_Site|XRCC3_uc001yoa.3_Translation_Start_Site|XRCC3_uc001yob.1_RNA		NM_005432	NP_005423	O43542	XRCC3_HUMAN		Epithelial(152;0.239)	4	324	-		Melanoma(154;0.155)|all_epithelial(191;0.19)						O43568|Q9BU18	Translation_Start_Site	SNP	ENST00000553264.1	37	c.-56C>G	CCDS9984.1																																																																																				0.527	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1		NM_005432		5	9	0	0	0	0.014758	0	5	9		
FMN1	342184	broad.mit.edu	37	15	33192230	33192230	+	Missense_Mutation	SNP	C	C	T	rs374358070		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:33192230C>T	ENST00000559047.1	-	11	3603	c.3604G>A	c.(3604-3606)Gat>Aat	p.D1202N	FMN1_ENST00000334528.9_Missense_Mutation_p.D979N|FMN1_ENST00000561249.1_Missense_Mutation_p.D1104N			Q68DA7	FMN1_HUMAN	formin 1	1202	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTATATCCATCGGCTTGTCCC	0.393																																						uc001zhf.3		NaN																	0				ovary(1)	1						c.(2935-2937)GAT>AAT		formin 1		C	ASN/ASP	2,3658		0,2,1828	201.0	204.0	203.0		2935	5.9	1.0	15		203	0,8164		0,0,4082	no	missense	FMN1	NM_001103184.2	23	0,2,5910	TT,TC,CC		0.0,0.0546,0.0169	probably-damaging	979/1197	33192230	2,11822	1830	4082	5912	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33192230C>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3604G>A	15.37:g.33192230C>T	ENSP00000454047:p.Asp1202Asn						p.D979N	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	10	2935	-		all_lung(180;1.14e-07)	1202			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2935G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.060819	0.93846	5.46E-4	0.0	ENSG00000248905	ENST00000334528	T	0.17528	2.27	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.88775	2.98	.	.	.	D	0.89917	1.0	D	0.97110	1.0	T	0.53816	-0.8385	9	0.52906	T	0.07	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	979	Q68DA7-5	.	N	979	ENSP00000333950:D979N	ENSP00000333950:D979N	D	-	1	0	FMN1	30979522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.941000	0.99782	0.655000	0.94253	GAT		0.393	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1		NM_001103184		42	112	0	0	0	0.009718	0	42	112		
EIF2AK4	440275	broad.mit.edu	37	15	40235658	40235658	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:40235658A>G	ENST00000263791.5	+	3	375	c.332A>G	c.(331-333)gAa>gGa	p.E111G	EIF2AK4_ENST00000560648.1_Missense_Mutation_p.E111G|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E111G|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E111G	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	111	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCTCGCCTAGAAGAACTGGCC	0.338																																						uc001zkm.1		NaN																	0				lung(2)|stomach(1)|skin(1)	4						c.(331-333)GAA>GGA		eukaryotic translation initiation factor 2 alpha							107.0	104.0	105.0					15																	40235658		1817	4084	5901	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40235658A>G	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.332A>G	15.37:g.40235658A>G	ENSP00000263791:p.Glu111Gly					EIF2AK4_uc001zkl.2_Missense_Mutation_p.E111G	p.E111G	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	3	382	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	111			RWD.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.332A>G	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577871	0.45902	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.24151	1.87;1.87	6.07	6.07	0.98685	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.366490	0.30584	N	0.009308	T	0.30665	0.0772	M	0.62154	1.92	0.25688	N	0.985723	B;B	0.27380	0.035;0.177	B;B	0.31869	0.137;0.135	T	0.24404	-1.0161	10	0.45353	T	0.12	-17.2452	12.9822	0.58570	0.8656:0.1344:0.0:0.0	.	111;111	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	G	111	ENSP00000263791:E111G;ENSP00000372174:E111G	ENSP00000263791:E111G	E	+	2	0	EIF2AK4	38022950	1.000000	0.71417	0.901000	0.35422	0.895000	0.52256	2.006000	0.40874	2.326000	0.78906	0.533000	0.62120	GAA		0.338	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1				15	42	0	0	0	0.004007	0	15	42		
BMF	90427	broad.mit.edu	37	15	40396430	40396430	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:40396430C>T	ENST00000354670.4	-	4	638	c.404G>A	c.(403-405)cGa>cAa	p.R135Q	BMF_ENST00000561282.1_Missense_Mutation_p.R135Q|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Intron|BMF_ENST00000561360.1_Missense_Mutation_p.R135Q|BMF_ENST00000220446.4_Intron|BMF_ENST00000559701.1_Intron|BMF_ENST00000397573.1_Missense_Mutation_p.R135Q	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	135					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CTGAAGCTTTCGGGCAATCTG	0.597																																						uc001zkv.2		NaN																	0				ovary(1)	1						c.(403-405)CGA>CAA		Bcl2 modifying factor isoform bmf-1							167.0	150.0	156.0					15																	40396430		2203	4300	6503	SO:0001583	missense	90427				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	g.chr15:40396430C>T	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.404G>A	15.37:g.40396430C>T	ENSP00000346697:p.Arg135Gln					BMF_uc001zkt.2_Intron|BMF_uc001zku.2_Intron|BMF_uc001zkw.2_Missense_Mutation_p.R135Q	p.R135Q	NM_033503	NP_277038	Q96LC9	BMF_HUMAN		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)	3	490	-		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	135			BH3.		Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Missense_Mutation	SNP	ENST00000354670.4	37	c.404G>A	CCDS10052.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699162	0.68501	.	.	ENSG00000104081	ENST00000354670;ENST00000397573	.	.	.	5.91	4.99	0.66335	.	0.106389	0.40469	N	0.001091	T	0.33904	0.0879	N	0.12746	0.255	0.80722	D	1	B	0.31125	0.309	B	0.21360	0.034	T	0.27262	-1.0079	9	0.52906	T	0.07	-0.1014	15.3667	0.74529	0.0:0.9324:0.0:0.0675	.	135	Q96LC9	BMF_HUMAN	Q	135	.	ENSP00000346697:R135Q	R	-	2	0	BMF	38183722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.502000	0.53332	2.802000	0.96397	0.655000	0.94253	CGA		0.597	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1		NM_033503		28	93	0	0	0	0.005443	0	28	93		
MGA	23269	broad.mit.edu	37	15	42042440	42042440	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:42042440C>G	ENST00000570161.1	+	16	6635	c.6635C>G	c.(6634-6636)tCa>tGa	p.S2212*	MGA_ENST00000219905.7_Nonsense_Mutation_p.S2212*|MGA_ENST00000545763.1_Nonsense_Mutation_p.S2003*|MGA_ENST00000566586.1_Nonsense_Mutation_p.S2003*|MGA_ENST00000389936.4_Nonsense_Mutation_p.S2173*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGGAAAATTCAGATGTGTTT	0.398																																						uc010ucy.1		NaN																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(6634-6636)TCA>TGA		MAX-interacting protein isoform 1							148.0	145.0	146.0					15																	42042440		1862	4107	5969	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042440C>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6635C>G	15.37:g.42042440C>G	ENSP00000457035:p.Ser2212*					MGA_uc010ucz.1_Nonsense_Mutation_p.S2003*|MGA_uc010uda.1_Nonsense_Mutation_p.S828*|MGA_uc001zoi.2_Nonsense_Mutation_p.S426*	p.S2212*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6816	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2173			Basic motif.		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.6635C>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	36	5.684964	0.96784	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	4.94	4.94	0.65067	.	0.562459	0.14595	N	0.310028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.5426	0.61684	0.0:1.0:0.0:0.0	.	.	.	.	X	2212;2173;2003	.	ENSP00000219905:S2212X	S	+	2	0	MGA	39829732	0.969000	0.33509	0.996000	0.52242	0.893000	0.52053	0.688000	0.25422	2.565000	0.86533	0.467000	0.42956	TCA		0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		31	66	0	0	0	0.013726	0	31	66		
STRC	161497	broad.mit.edu	37	15	43896298	43896298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:43896298C>T	ENST00000450892.2	-	22	4348	c.4271G>A	c.(4270-4272)tGg>tAg	p.W1424*	STRC_ENST00000541030.1_Nonsense_Mutation_p.W651*|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1424					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTCTGCTCCCAGCTCTGCTG	0.582																																						uc001zsf.2		NaN																	0					0						c.(4270-4272)TGG>TAG		stereocilin precursor							23.0	23.0	23.0					15																	43896298		2199	4297	6496	SO:0001587	stop_gained	161497				sensory perception of sound	cell surface		g.chr15:43896298C>T	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4271G>A	15.37:g.43896298C>T	ENSP00000401513:p.Trp1424*					STRC_uc010bdl.2_Nonsense_Mutation_p.W651*|STRC_uc001zse.2_5'UTR	p.W1424*	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	22	4349	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1424						Nonsense_Mutation	SNP	ENST00000450892.2	37	c.4271G>A	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	42	9.748207	0.99253	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4902	15.0506	0.71865	0.0:1.0:0.0:0.0	.	.	.	.	X	1424;1424;651	.	ENSP00000299992:W1424X	W	-	2	0	STRC	41683590	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.394000	0.59671	2.699000	0.92147	0.556000	0.70494	TGG		0.582	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1		NM_153700		8	27	0	0	0	0.008291	0	8	27		
DUOX2	50506	broad.mit.edu	37	15	45396470	45396470	+	Missense_Mutation	SNP	C	C	T	rs375229316		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:45396470C>T	ENST00000603300.1	-	19	2630	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	DUOX2_ENST00000389039.6_Missense_Mutation_p.E810K	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	810					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCGGCAAACTCGGCCCTGCTC	0.627																																						uc010bea.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(2428-2430)GAG>AAG		dual oxidase 2 precursor		C	LYS/GLU	0,4396		0,0,2198	43.0	38.0	40.0		2428	5.5	1.0	15		40	1,8595	1.2+/-3.3	0,1,4297	no	missense	DUOX2	NM_014080.4	56	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	810/1549	45396470	1,12991	2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45396470C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2428G>A	15.37:g.45396470C>T	ENSP00000475084:p.Glu810Lys					DUOX2_uc001zun.2_Missense_Mutation_p.E810K	p.E810K	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	19	2631	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	810			Cytoplasmic (Potential).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.2428G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	36	5.658026	0.96734	0.0	1.16E-4	ENSG00000140279	ENST00000389039	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85335	0.1092	9	0.87932	D	0	-25.8304	18.4539	0.90713	0.0:1.0:0.0:0.0	.	810;372	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	K	810	.	ENSP00000373691:E810K	E	-	1	0	DUOX2	43183762	1.000000	0.71417	0.960000	0.40013	0.953000	0.61014	7.794000	0.85869	2.579000	0.87056	0.563000	0.77884	GAG		0.627	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_014080		12	14	0	0	0	0.016723	0	12	14		
TMC3	342125	broad.mit.edu	37	15	81625286	81625286	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr15:81625286C>T	ENST00000359440.5	-	22	2912	c.2777G>A	c.(2776-2778)cGa>cAa	p.R926Q	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.R927Q	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGCATATTGTCGCACGTTCCT	0.512																																						uc002bgo.1		NaN																	0				ovary(1)|liver(1)	2						c.(2776-2778)CGA>CAA		transmembrane channel-like 3							52.0	53.0	53.0					15																	81625286		1954	4134	6088	SO:0001583	missense	342125					integral to membrane		g.chr15:81625286C>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2777G>A	15.37:g.81625286C>T	ENSP00000352413:p.Arg926Gln					TMC3_uc010blr.1_RNA	p.R926Q	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			22	2777	-			926			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.2777G>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	c	11.15	1.555432	0.27739	.	.	ENSG00000188869	ENST00000359440	T	0.69926	-0.44	5.42	-2.41	0.06562	.	0.669097	0.11726	N	0.535357	T	0.48059	0.1479	N	0.25426	0.745	0.09310	N	1	B	0.30193	0.272	B	0.17433	0.018	T	0.06006	-1.0851	10	0.29301	T	0.29	-0.0189	13.6151	0.62103	0.0:0.6086:0.0:0.3914	.	926	Q7Z5M5	TMC3_HUMAN	Q	926	ENSP00000352413:R926Q	ENSP00000352413:R926Q	R	-	2	0	TMC3	79412341	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.417000	0.07088	-1.207000	0.02637	-1.733000	0.00692	CGA		0.512	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3		NM_181841		17	36	0	0	0	0.006122	0	17	36		
WDR90	197335	broad.mit.edu	37	16	708543	708543	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:708543G>A	ENST00000293879.4	+	23	2785	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.E929K			Q96KV7	WDR90_HUMAN	WD repeat domain 90	929										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGTCCACCCTGAGCCCTGCCC	0.662																																						uc002cii.1		NaN																	0				ovary(1)	1						c.(2785-2787)GAG>AAG		WD repeat domain 90							58.0	68.0	64.0					16																	708543		2137	4238	6375	SO:0001583	missense	197335							g.chr16:708543G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2785G>A	16.37:g.708543G>A	ENSP00000293879:p.Glu929Lys					WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.E456K|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.E103K|WDR90_uc002cin.1_5'Flank	p.E929K	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			23	2839	+		Hepatocellular(780;0.0218)	929			WD 10.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2785G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	4.007	-0.001352	0.07819	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.50813	0.73;3.55	5.11	-4.31	0.03698	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.344690	0.05039	U	0.475922	T	0.22627	0.0546	N	0.20685	0.6	0.09310	N	1	B;B	0.21905	0.019;0.062	B;B	0.18263	0.015;0.021	T	0.21109	-1.0255	10	0.05351	T	0.99	.	2.8444	0.05539	0.4187:0.2647:0.224:0.0926	.	929;929	F8VUX9;Q96KV7	.;WDR90_HUMAN	K	929	ENSP00000448122:E929K;ENSP00000293879:E929K	ENSP00000293879:E929K	E	+	1	0	WDR90	648544	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.110000	0.15437	-1.063000	0.03177	-0.965000	0.02619	GAG		0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1		NM_145294		29	67	0	0	0	0.009535	0	29	67		
RBBP6	5930	broad.mit.edu	37	16	24578570	24578570	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:24578570C>T	ENST00000319715.4	+	15	2128	c.1696C>T	c.(1696-1698)Ccg>Tcg	p.P566S	RBBP6_ENST00000348022.2_Missense_Mutation_p.P566S|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	566					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		tcctttgtatccgcctcctcc	0.567																																						uc002dmh.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1696-1698)CCG>TCG		retinoblastoma-binding protein 6 isoform 1							193.0	175.0	181.0					16																	24578570		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24578570C>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1696C>T	16.37:g.24578570C>T	ENSP00000317872:p.Pro566Ser					RBBP6_uc010vcb.1_Missense_Mutation_p.P433S|RBBP6_uc002dmi.2_Missense_Mutation_p.P566S|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.P433S	p.P566S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	15	2736	+			566					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.1696C>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965210	0.53507	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.22336	1.96;2.15	5.8	5.8	0.92144	.	0.000000	0.56097	D	0.000023	T	0.38480	0.1042	L	0.29908	0.895	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.10109	-1.0644	10	0.62326	D	0.03	-14.0257	20.0522	0.97631	0.0:1.0:0.0:0.0	.	566;566	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	S	566	ENSP00000317872:P566S;ENSP00000316291:P566S	ENSP00000317872:P566S	P	+	1	0	RBBP6	24486071	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.938000	0.63519	2.737000	0.93849	0.563000	0.77884	CCG		0.567	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2		NM_006910		21	84	0	0	0	0.008871	0	21	84		
NSMCE1	197370	broad.mit.edu	37	16	27246536	27246536	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:27246536C>T	ENST00000361439.4	-	3	320	c.221G>A	c.(220-222)gGa>gAa	p.G74E		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	74	Interaction with NDNL2.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						TTCCGTGACTCCTCTCTTTAT	0.493											OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002doi.1		NaN																	0					0						c.(220-222)GGA>GAA		non-SMC element 1 homolog							84.0	88.0	86.0					16																	27246536		2105	4238	6343	SO:0001583	missense	197370				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding	g.chr16:27246536C>T	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.221G>A	16.37:g.27246536C>T	ENSP00000355077:p.Gly74Glu		OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	NSMCE1_uc002doj.1_RNA	p.G74E	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN			3	319	-			74					D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	ENST00000361439.4	37	c.221G>A	CCDS10628.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785943	0.90282	.	.	ENSG00000169189	ENST00000361439	T	0.30182	1.54	5.4	5.4	0.78164	.	0.098532	0.64402	D	0.000001	T	0.43590	0.1254	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13202	-1.0518	10	0.02654	T	1	.	17.0726	0.86578	0.0:1.0:0.0:0.0	.	74	Q8WV22	NSE1_HUMAN	E	74	ENSP00000355077:G74E	ENSP00000355077:G74E	G	-	2	0	NSMCE1	27154037	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	5.456000	0.66665	2.699000	0.92147	0.637000	0.83480	GGA		0.493	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3		NM_145080		10	34	0	0	0	0.008291	0	10	34		
TAOK2	9344	broad.mit.edu	37	16	29998793	29998793	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:29998793G>A	ENST00000308893.4	+	16	4243	c.3200G>A	c.(3199-3201)gGc>gAc	p.G1067D	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.G894D|TAOK2_ENST00000543033.1_Missense_Mutation_p.G954D	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1067					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGCGGGGGGCAGATGGGTG	0.692																																						uc002dva.1		NaN																	0				ovary(1)	1						c.(3199-3201)GGC>GAC		TAO kinase 2 isoform 2							18.0	25.0	22.0					16																	29998793		2184	4291	6475	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998793G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3200G>A	16.37:g.29998793G>A	ENSP00000310094:p.Gly1067Asp					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.G1074D|TAOK2_uc002dvd.1_Missense_Mutation_p.G894D	p.G1067D	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			16	3983	+			1067					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.3200G>A	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676105	0.47886	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.71222	-0.5;-0.55	4.8	4.8	0.61643	.	1.365850	0.04334	N	0.352921	T	0.74382	0.3709	N	0.14661	0.345	0.29041	N	0.885077	D;D;D	0.61080	0.982;0.989;0.982	P;D;P	0.63957	0.617;0.92;0.617	T	0.68538	-0.5382	9	.	.	.	.	14.8685	0.70437	0.0:0.0:1.0:0.0	.	1258;894;1067	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	D	1067;954	ENSP00000310094:G1067D;ENSP00000440336:G954D	.	G	+	2	0	TAOK2	29906294	0.032000	0.19561	0.997000	0.53966	0.666000	0.39218	1.049000	0.30392	2.504000	0.84457	0.563000	0.77884	GGC		0.692	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2		NM_016151		6	31	0	0	0	0.00308	0	6	31		
HSD3B7	80270	broad.mit.edu	37	16	30997087	30997087	+	Silent	SNP	C	C	T	rs377494419		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:30997087C>T	ENST00000297679.5	+	2	201	c.108C>T	c.(106-108)ctC>ctT	p.L36L	HSD3B7_ENST00000262520.6_Silent_p.L36L|HSD3B7_ENST00000353250.5_Silent_p.L36L|AC135048.1_ENST00000602217.1_Silent_p.P149P	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	36					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCCCGGCTCGGGGAGCTGC	0.642																																						uc002eaf.2		NaN																	0					0						c.(106-108)CTC>CTT		hydroxy-delta-5-steroid dehydrogenase, 3 beta-		C	,,	0,4386		0,0,2193	20.0	26.0	24.0		108,108,108	1.6	0.1	16		24	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	HSD3B7	NM_001142777.1,NM_001142778.1,NM_025193.3	,,	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	,,	36/197,36/197,36/370	30997087	1,12983	2193	4299	6492	SO:0001819	synonymous_variant	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30997087C>T	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.108C>T	16.37:g.30997087C>T						HSD3B7_uc010cac.2_Silent_p.L36L|HSD3B7_uc002eag.2_Silent_p.L36L|HSD3B7_uc002eah.2_Silent_p.L36L	p.L36L	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN			2	214	+			36					Q96M28|Q9BSN9	Silent	SNP	ENST00000297679.5	37	c.108C>T	CCDS10698.1																																																																																				0.642	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2				5	6	0	0	0	0.014758	0	5	6		
SLC12A3	6559	broad.mit.edu	37	16	56901090	56901090	+	Missense_Mutation	SNP	G	G	A	rs199745548		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:56901090G>A	ENST00000563236.1	+	2	416	c.391G>A	c.(391-393)Gag>Aag	p.E131K	SLC12A3_ENST00000566786.1_Missense_Mutation_p.E130K|SLC12A3_ENST00000262502.5_Missense_Mutation_p.E130K|SLC12A3_ENST00000438926.2_Missense_Mutation_p.E131K			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	131					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GAAGAACCCCGAGGAGCCAGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		15646	0.0		0.001	False		,,,				2504	0.0					uc010ccm.2		NaN																	0				ovary(2)|breast(1)	3						c.(391-393)GAG>AAG		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						42.0	47.0	45.0					16																	56901090		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56901090G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.391G>A	16.37:g.56901090G>A	ENSP00000456149:p.Glu131Lys					SLC12A3_uc002ekd.3_Missense_Mutation_p.E131K|SLC12A3_uc010ccn.2_Missense_Mutation_p.E130K	p.E131K	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			2	420	+			131			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.391G>A	CCDS58464.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.846	-0.740279	0.03088	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	D	0.84660	-1.88	5.69	5.69	0.88448	.	0.405962	0.28219	N	0.016148	T	0.66208	0.2766	N	0.02765	-0.5	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.34900	-0.9810	10	0.02654	T	1	.	16.7771	0.85553	0.0:0.1285:0.8715:0.0	.	130;131;131	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	K	130;131	ENSP00000262502:E131K	ENSP00000262502:E131K	E	+	1	0	SLC12A3	55458591	0.626000	0.27120	0.052000	0.19188	0.032000	0.12392	2.941000	0.49011	2.699000	0.92147	0.655000	0.94253	GAG		0.652	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1				3	8	0	0	0	0.004672	0	3	8		
GINS3	64785	broad.mit.edu	37	16	58438619	58438619	+	Missense_Mutation	SNP	G	G	C	rs144642422		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:58438619G>C	ENST00000318129.5	+	3	845	c.637G>C	c.(637-639)Gat>Cat	p.D213H	GINS3_ENST00000328514.7_Missense_Mutation_p.D135H|GINS3_ENST00000426538.2_Missense_Mutation_p.D252H	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	213					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						AAAATTCACTGATATGGAAGA	0.478																																						uc002enh.3		NaN																	0					0						c.(637-639)GAT>CAT		GINS complex subunit 3 isoform b							36.0	34.0	34.0					16																	58438619		2198	4300	6498	SO:0001583	missense	64785				DNA replication	nucleus		g.chr16:58438619G>C	BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.637G>C	16.37:g.58438619G>C	ENSP00000318196:p.Asp213His					GINS3_uc010cdj.2_Missense_Mutation_p.D252H|GINS3_uc002enj.3_Missense_Mutation_p.D135H|GINS3_uc002eni.3_3'UTR	p.D213H	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN			3	845	+			213					B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	ENST00000318129.5	37	c.637G>C	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045622	0.55110	.	.	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	.	.	.	6.17	3.1	0.35709	.	0.234215	0.49916	D	0.000139	T	0.47154	0.1430	N	0.19112	0.55	0.39299	D	0.964879	D;P;P	0.56035	0.974;0.573;0.946	P;B;P	0.53593	0.73;0.317;0.479	T	0.50355	-0.8838	9	0.66056	D	0.02	-4.8549	10.0098	0.41979	0.2188:0.0:0.7812:0.0	.	252;135;213	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	H	252;135;213	.	ENSP00000318196:D213H	D	+	1	0	GINS3	56996120	0.999000	0.42202	0.277000	0.24703	0.336000	0.28762	3.254000	0.51477	0.432000	0.26286	0.655000	0.94253	GAT		0.478	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2		NM_022770		7	19	0	0	0	0.001984	0	7	19		
PARD6A	50855	broad.mit.edu	37	16	67696467	67696467	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:67696467C>T	ENST00000219255.3	+	3	1038	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	PARD6A_ENST00000458121.2_Silent_p.L319L|ACD_ENST00000219251.8_5'Flank|ACD_ENST00000393919.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank|PARD6A_ENST00000602551.1_Silent_p.L290L			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	320					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGCTCTCTGCCCTCCCT	0.637																																						uc002ett.2		NaN																	0				ovary(1)	1						c.(958-960)CTG>TTG		par-6 partitioning defective 6 homolog alpha							22.0	26.0	25.0					16																	67696467		2198	4300	6498	SO:0001819	synonymous_variant	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67696467C>T		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.958C>T	16.37:g.67696467C>T						ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.L319L|PARD6A_uc002etu.2_Silent_p.L144L	p.L320L	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	1049	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	320					O14911|Q9NPJ7	Silent	SNP	ENST00000219255.3	37	c.958C>T	CCDS10843.1																																																																																				0.637	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2		NM_016948		9	19	0	0	0	0.010729	0	9	19		
ESRP2	80004	broad.mit.edu	37	16	68264333	68264333	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr16:68264333C>G	ENST00000565858.1	-	14	2139	c.2053G>C	c.(2053-2055)Gct>Cct	p.A685P	RP11-96D1.10_ENST00000571975.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.A675P|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	685					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTCATACCAGCCGTGTATGGG	0.617																																						uc010cfa.1		NaN																	0				ovary(1)	1						c.(2053-2055)GCT>CCT		RNA binding motif protein 35B							97.0	102.0	100.0					16																	68264333		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68264333C>G	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.2053G>C	16.37:g.68264333C>G	ENSP00000454554:p.Ala685Pro					ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.A675P	p.A685P	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN			14	2241	-			685					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.2053G>C		.	.	.	.	.	.	.	.	.	.	C	18.87	3.714506	0.68730	.	.	ENSG00000103067	ENST00000473183	T	0.13420	2.59	5.93	4.0	0.46444	.	0.262921	0.44902	D	0.000405	T	0.22205	0.0535	L	0.53249	1.67	0.34477	D	0.70343	P;P	0.52692	0.955;0.951	P;P	0.55871	0.616;0.786	T	0.28554	-1.0040	10	0.72032	D	0.01	-4.8402	5.8188	0.18516	0.1362:0.6407:0.0:0.2231	.	685;675	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	P	675	ENSP00000418748:A675P	ENSP00000418748:A675P	A	-	1	0	ESRP2	66821834	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.061000	0.30542	0.859000	0.35456	0.561000	0.74099	GCT		0.617	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1		NM_024939		24	55	0	0	0	0.014323	0	24	55		
KIAA0100	9703	broad.mit.edu	37	17	26940312	26940312	+	IGR	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26940312C>G	ENST00000528896.2	-	0	7407				SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'UTR|RP11-192H23.4_ENST00000577790.1_Intron|SGK494_ENST00000301037.5_Missense_Mutation_p.D126H|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.D126H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGGGTGCAATCTAGCACCTTG	0.458											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hbr.1		NaN																	0					0						c.(376-378)GAT>CAT		uncharacterized serine/threonine-protein kinase							90.0	83.0	86.0					17																	26940312		2203	4300	6503	SO:0001628	intergenic_variant	124923							g.chr17:26940312C>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26940312C>G			OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	SGK494_uc010waq.1_Missense_Mutation_p.D126H|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	p.D126H	NM_144610	NP_653211					3	408	-								A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.376G>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441322	0.63067	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T;T;T;T	0.65178	3.09;3.09;-0.14;3.09;-0.14	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053358	0.64402	D	0.000001	T	0.65091	0.2658	N	0.12569	0.235	0.58432	D	0.999999	D;P	0.89917	1.0;0.642	D;P	0.97110	1.0;0.542	T	0.70722	-0.4794	10	0.52906	T	0.07	-13.2112	16.8076	0.85709	0.0:1.0:0.0:0.0	.	126;126	E9PMD0;Q96LW2	.;SG494_HUMAN	H	126	ENSP00000431165:D126H;ENSP00000436369:D126H;ENSP00000301037:D126H;ENSP00000437573:D126H;ENSP00000434603:D126H	ENSP00000301037:D126H	D	-	1	0	AC005726.6;RP11-192H23.4	23964439	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	6.581000	0.74045	2.480000	0.83734	0.561000	0.74099	GAT		0.458	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		23	39	0	0	0	0.021523	0	23	39		
KIAA0100	9703	broad.mit.edu	37	17	26940461	26940461	+	IGR	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26940461C>T	ENST00000528896.2	-	0	7407				SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'UTR|RP11-192H23.4_ENST00000577790.1_Silent_p.L106L|SGK494_ENST00000301037.5_Silent_p.L107L|RP11-192H23.4_ENST00000534850.1_Silent_p.L107L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GACTTACCTTCAGCTGCTGCT	0.502											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hbr.1		NaN																	0					0						c.(319-321)CTG>CTA		uncharacterized serine/threonine-protein kinase							64.0	67.0	66.0					17																	26940461		2203	4300	6503	SO:0001628	intergenic_variant	124923							g.chr17:26940461C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26940461C>T			OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	SGK494_uc010waq.1_Silent_p.L107L|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	p.L107L	NM_144610	NP_653211					2	353	-								A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.321G>A	CCDS32595.1																																																																																				0.502	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		20	41	0	0	0	0.016522	0	20	41		
KIAA0100	9703	broad.mit.edu	37	17	26942708	26942708	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26942708C>A	ENST00000528896.2	-	38	6573	c.6499G>T	c.(6499-6501)Gac>Tac	p.D2167Y	KIAA0100_ENST00000579924.2_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D2024Y|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|SGK494_ENST00000301037.5_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.D2024Y|RP11-192H23.4_ENST00000534850.1_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2167						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTGCGGCTGTCCCTTTTGACA	0.557																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(6499-6501)GAC>TAC		hypothetical protein LOC9703 precursor							67.0	59.0	62.0					17																	26942708		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26942708C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6499G>T	17.37:g.26942708C>A	ENSP00000436773:p.Asp2167Tyr					SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.D496Y	p.D2167Y	NM_014680	NP_055495	Q14667	K0100_HUMAN			38	6598	-	Lung NSC(42;0.00431)		2167					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6499G>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126808	0.77549	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.53206	0.63;0.63	5.78	5.78	0.91487	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69577	-0.5108	10	0.51188	T	0.08	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	2167	Q14667	K0100_HUMAN	Y	2167;2137;2167;2024	ENSP00000436773:D2167Y;ENSP00000446443:D2024Y	ENSP00000005905:D2167Y	D	-	1	0	KIAA0100	23966835	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.341000	0.79300	2.894000	0.99253	0.655000	0.94253	GAC		0.557	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		11	39	1	0	6.40141e-05	0.010729	6.57577e-05	11	39		
KIAA0100	9703	broad.mit.edu	37	17	26942717	26942717	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26942717C>T	ENST00000528896.2	-	38	6564	c.6490G>A	c.(6490-6492)Gtc>Atc	p.V2164I	KIAA0100_ENST00000579924.2_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.V2021I|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|SGK494_ENST00000301037.5_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.V2021I|RP11-192H23.4_ENST00000534850.1_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2164						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCCCTTTTGACAGCCATGGCA	0.567																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(6490-6492)GTC>ATC		hypothetical protein LOC9703 precursor							67.0	59.0	62.0					17																	26942717		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26942717C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6490G>A	17.37:g.26942717C>T	ENSP00000436773:p.Val2164Ile					SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.V493I	p.V2164I	NM_014680	NP_055495	Q14667	K0100_HUMAN			38	6589	-	Lung NSC(42;0.00431)		2164					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6490G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865937	0.71949	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.47528	0.84;0.84	5.78	5.78	0.91487	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	L	0.28608	0.87	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.47724	-0.9095	10	0.22706	T	0.39	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	2164	Q14667	K0100_HUMAN	I	2164;2134;2164;2021	ENSP00000436773:V2164I;ENSP00000446443:V2021I	ENSP00000005905:V2164I	V	-	1	0	KIAA0100	23966844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.341000	0.79300	2.894000	0.99253	0.655000	0.94253	GTC		0.567	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		13	34	0	0	0	0.013537	0	13	34		
KIAA0100	9703	broad.mit.edu	37	17	26943203	26943203	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26943203C>T	ENST00000528896.2	-	37	6375	c.6301G>A	c.(6301-6303)Gac>Aac	p.D2101N	KIAA0100_ENST00000579924.2_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D1958N|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|SGK494_ENST00000301037.5_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.D1958N|RP11-192H23.4_ENST00000534850.1_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2101						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTGTCAATGTCATCCACAGGG	0.478																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(6301-6303)GAC>AAC		hypothetical protein LOC9703 precursor							70.0	57.0	61.0					17																	26943203		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26943203C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6301G>A	17.37:g.26943203C>T	ENSP00000436773:p.Asp2101Asn					SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.D430N	p.D2101N	NM_014680	NP_055495	Q14667	K0100_HUMAN			37	6400	-	Lung NSC(42;0.00431)		2101					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6301G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742223	0.89573	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.51817	0.69;0.69	5.9	5.9	0.94986	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72128	0.3422	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72795	-0.4185	10	0.62326	D	0.03	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	2101	Q14667	K0100_HUMAN	N	2101;2071;2101;1958	ENSP00000436773:D2101N;ENSP00000446443:D1958N	ENSP00000005905:D2101N	D	-	1	0	KIAA0100	23967330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.449000	0.80643	2.797000	0.96272	0.655000	0.94253	GAC		0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		11	28	0	0	0	0.008291	0	11	28		
KIAA0100	9703	broad.mit.edu	37	17	26945827	26945827	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:26945827C>G	ENST00000528896.2	-	32	5879	c.5805G>C	c.(5803-5805)caG>caC	p.Q1935H	KIAA0100_ENST00000579924.2_5'UTR|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.Q1792H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.Q1792H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1935						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGAGGAACCTCTGCAGTTCTA	0.478																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(5803-5805)CAG>CAC		hypothetical protein LOC9703 precursor							139.0	123.0	128.0					17																	26945827		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26945827C>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5805G>C	17.37:g.26945827C>G	ENSP00000436773:p.Gln1935His					KIAA0100_uc002hbt.2_Missense_Mutation_p.Q264H	p.Q1935H	NM_014680	NP_055495	Q14667	K0100_HUMAN			32	5904	-	Lung NSC(42;0.00431)		1935					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.5805G>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779583	0.70107	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.45276	0.9;0.9	5.22	3.17	0.36434	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	L	0.33485	1.01	0.58432	D	0.999996	D	0.69078	0.997	D	0.85130	0.997	T	0.38908	-0.9639	10	0.45353	T	0.12	.	10.0168	0.42018	0.0:0.8294:0.0:0.1706	.	1935	Q14667	K0100_HUMAN	H	1935;1905;1935;1792	ENSP00000436773:Q1935H;ENSP00000446443:Q1792H	ENSP00000005905:Q1935H	Q	-	3	2	KIAA0100	23969954	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.842000	0.48230	0.540000	0.28808	0.561000	0.74099	CAG		0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		24	56	0	0	0	0.005443	0	24	56		
SUPT6H	6830	broad.mit.edu	37	17	27008291	27008291	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:27008291C>G	ENST00000314616.6	+	12	1650	c.1367C>G	c.(1366-1368)tCa>tGa	p.S456*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.S456*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	456	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATGTCCAATCAATGGATGAG	0.443																																						uc002hby.2		NaN																	0				ovary(2)|skin(1)	3						c.(1366-1368)TCA>TGA		suppressor of Ty 6 homolog							137.0	128.0	131.0					17																	27008291		2203	4300	6503	SO:0001587	stop_gained	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27008291C>G	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1367C>G	17.37:g.27008291C>G	ENSP00000319104:p.Ser456*					SUPT6H_uc010crt.2_Nonsense_Mutation_p.S456*	p.S456*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			12	1457	+	Lung NSC(42;0.00431)		456					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	c.1367C>G	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	41	9.142986	0.99080	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.97	5.97	0.96955	.	0.200402	0.44097	D	0.000490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.928	20.428	0.99075	0.0:1.0:0.0:0.0	.	.	.	.	X	456	.	ENSP00000319104:S456X	S	+	2	0	SUPT6H	24032418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.309000	0.78937	2.837000	0.97791	0.655000	0.94253	TCA		0.443	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170		20	41	0	0	0	0.010504	0	20	41		
TP53I13	90313	broad.mit.edu	37	17	27895814	27895814	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:27895814T>C	ENST00000301057.7	+	1	153	c.38T>C	c.(37-39)cTg>cCg	p.L13P	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA|ABHD15_ENST00000307201.4_5'Flank	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	13						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CTGCTTCTCCTGGCAGCCCTC	0.731																																						uc002hee.2		NaN																	0					0						c.(37-39)CTG>CCG		tumor protein p53 inducible protein 13							17.0	21.0	19.0					17																	27895814		1902	4085	5987	SO:0001583	missense	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27895814T>C	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.38T>C	17.37:g.27895814T>C	ENSP00000301057:p.Leu13Pro					ABHD15_uc002hed.1_5'Flank	p.L13P	NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	1	76	+			13					Q7L5U3	Missense_Mutation	SNP	ENST00000301057.7	37	c.38T>C	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	T	9.395	1.076629	0.20227	.	.	ENSG00000167543	ENST00000301057	.	.	.	4.24	4.24	0.50183	.	0.250633	0.24280	N	0.039909	T	0.67392	0.2888	L	0.57536	1.79	0.48395	D	0.99964	D	0.64830	0.994	P	0.58928	0.848	T	0.71467	-0.4584	9	0.87932	D	0	-2.0311	12.6542	0.56778	0.0:0.0:0.0:1.0	.	13	Q8NBR0	P5I13_HUMAN	P	13	.	ENSP00000301057:L13P	L	+	2	0	TP53I13	24919940	0.965000	0.33210	0.645000	0.29479	0.003000	0.03518	0.953000	0.29162	1.946000	0.56461	0.374000	0.22700	CTG		0.731	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2		NM_138349		13	18	0	0	0	0.020292	0	13	18		
AP2B1	163	broad.mit.edu	37	17	33966732	33966732	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:33966732G>A	ENST00000262325.7	+	11	1943	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	AP2B1_ENST00000537622.2_Missense_Mutation_p.E464K|AP2B1_ENST00000592545.1_Missense_Mutation_p.E426K|AP2B1_ENST00000538556.1_Missense_Mutation_p.E407K|AP2B1_ENST00000312678.8_Missense_Mutation_p.E464K|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.E464K	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	464					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CAATGCAGATGAGTTACTAGA	0.438																																						uc002hjr.2		NaN																	0				ovary(1)	1						c.(1390-1392)GAG>AAG		adaptor-related protein complex 2, beta 1							118.0	114.0	116.0					17																	33966732		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33966732G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1390G>A	17.37:g.33966732G>A	ENSP00000262325:p.Glu464Lys					AP2B1_uc002hjq.2_Missense_Mutation_p.E464K|AP2B1_uc010wci.1_Missense_Mutation_p.E426K|AP2B1_uc002hjs.2_Missense_Mutation_p.E407K|AP2B1_uc002hjt.2_Missense_Mutation_p.E464K|AP2B1_uc010ctv.2_Missense_Mutation_p.E464K|AP2B1_uc010wcj.1_Missense_Mutation_p.E201K	p.E464K	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	11	1579	+		Ovarian(249;0.17)	464					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1390G>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568537	0.86439	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.46	5.46	0.80206	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.88906	2.99	0.80722	D	1	D;P;P;B	0.59767	0.986;0.915;0.93;0.388	D;P;P;B	0.67548	0.952;0.875;0.655;0.24	T	0.64529	-0.6386	10	0.59425	D	0.04	-0.0516	18.6591	0.91465	0.0:0.0:1.0:0.0	.	201;426;464;464	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	K	464;464;407;464;201	ENSP00000262325:E464K;ENSP00000314414:E464K;ENSP00000440563:E407K;ENSP00000437413:E464K	ENSP00000262325:E464K	E	+	1	0	AP2B1	30990845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.616000	0.98359	2.710000	0.92621	0.655000	0.94253	GAG		0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1				16	50	0	0	0	0.004007	0	16	50		
AATF	26574	broad.mit.edu	37	17	35310257	35310257	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:35310257G>A	ENST00000225402.5	+	3	606	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	119	Glu-rich.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GGAATATGATGAGGACGACCT	0.498																																					NSCLC(49;901 1159 19183 41572 46244)	uc002hni.2		NaN																	0					0						c.(355-357)GAG>AAG		apoptosis antagonizing transcription factor							112.0	110.0	110.0					17																	35310257		2203	4300	6503	SO:0001583	missense	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35310257G>A	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.355G>A	17.37:g.35310257G>A	ENSP00000225402:p.Glu119Lys					AATF_uc002hnj.2_RNA	p.E119K	NM_012138	NP_036270	Q9NY61	AATF_HUMAN			3	606	+		Breast(25;0.00607)	119			Glu-rich.		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	c.355G>A	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024895	0.54683	.	.	ENSG00000108270	ENST00000225402	T	0.31510	1.49	5.4	5.4	0.78164	.	0.542713	0.21964	N	0.066560	T	0.28499	0.0705	L	0.59436	1.845	0.41831	D	0.990076	B	0.32245	0.361	B	0.24541	0.054	T	0.09552	-1.0669	10	0.11485	T	0.65	-3.0099	16.9464	0.86231	0.0:0.0:1.0:0.0	.	119	Q9NY61	AATF_HUMAN	K	119	ENSP00000225402:E119K	ENSP00000225402:E119K	E	+	1	0	AATF	32384370	0.546000	0.26457	0.001000	0.08648	0.475000	0.33008	2.702000	0.47102	2.529000	0.85273	0.655000	0.94253	GAG		0.498	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1		NM_012138		12	49	0	0	0	0.013537	0	12	49		
CACNB1	782	broad.mit.edu	37	17	37343111	37343111	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:37343111G>A	ENST00000394303.3	-	5	693	c.486C>T	c.(484-486)ccC>ccT	p.P162P	CACNB1_ENST00000344140.5_Silent_p.P162P|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Silent_p.P162P	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	162					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGTTTGACGGGGCTGGGAA	0.592																																					Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(484-486)CCC>CCT		calcium channel, voltage-dependent, beta 1	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						68.0	64.0	65.0					17																	37343111		2203	4300	6503	SO:0001819	synonymous_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37343111G>A		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.486C>T	17.37:g.37343111G>A						CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Silent_p.P162P|CACNB1_uc002hro.2_Silent_p.P162P|CACNB1_uc002hrp.1_Silent_p.P162P|CACNB1_uc010web.1_Silent_p.P115P	p.P162P	NM_000723	NP_000714	Q02641	CACB1_HUMAN			5	639	-			162					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	ENST00000394303.3	37	c.486C>T	CCDS42311.1																																																																																				0.592	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3				22	40	0	0	0	0.014323	0	22	40		
FBXL20	84961	broad.mit.edu	37	17	37431242	37431242	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:37431242G>C	ENST00000264658.6	-	10	1068	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	FBXL20_ENST00000577399.1_Missense_Mutation_p.Q272E|FBXL20_ENST00000394294.3_Missense_Mutation_p.Q238E|FBXL20_ENST00000583610.1_Missense_Mutation_p.Q270E	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	270					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GGGCAGTTCTGACCTAGAGCA	0.418																																						uc010wed.1		NaN																	0				ovary(1)	1						c.(808-810)CAG>GAG		F-box and leucine-rich repeat protein 20							127.0	116.0	120.0					17																	37431242		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37431242G>C	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.808C>G	17.37:g.37431242G>C	ENSP00000264658:p.Gln270Glu					FBXL20_uc002hrt.2_Missense_Mutation_p.Q270E|FBXL20_uc010cvu.2_Missense_Mutation_p.Q238E	p.Q270E	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		10	1029	-			270			LRR 8.		A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.808C>G	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250729	0.22880	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.02579	4.24;4.35	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.03136	0.0092	L	0.35644	1.08	0.80722	D	1	P;B	0.38978	0.652;0.009	B;B	0.34346	0.18;0.014	T	0.50083	-0.8869	10	0.06099	T	0.92	.	19.9446	0.97177	0.0:0.0:1.0:0.0	.	238;270	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	E	270;238	ENSP00000264658:Q270E;ENSP00000377832:Q238E	ENSP00000264658:Q270E	Q	-	1	0	FBXL20	34684768	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.384000	0.97219	2.814000	0.96858	0.591000	0.81541	CAG		0.418	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2		NM_032875		11	48	0	0	0	0.010729	0	11	48		
CDK12	51755	broad.mit.edu	37	17	37618889	37618889	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:37618889G>A	ENST00000447079.4	+	1	598	c.565G>A	c.(565-567)Gag>Aag	p.E189K	CDK12_ENST00000430627.2_Missense_Mutation_p.E189K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	189					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAAAGAACGGGAGCTGAAGTC	0.502			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2		NaN		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(565-567)GAG>AAG		Cdc2-related kinase, arginine/serine-rich							85.0	91.0	89.0					17																	37618889		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37618889G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.565G>A	17.37:g.37618889G>A	ENSP00000398880:p.Glu189Lys	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Missense_Mutation_p.E189K|CDK12_uc002hrw.3_Missense_Mutation_p.E189K	p.E189K	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			1	1151	+			189					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.565G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195282	0.58017	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.41400	1.0;1.0	5.2	5.2	0.72013	.	0.000000	0.45606	D	0.000352	T	0.62146	0.2404	L	0.58101	1.795	0.40544	D	0.981054	D;D;D	0.71674	0.998;0.982;0.998	D;D;D	0.78314	0.986;0.952;0.991	T	0.61874	-0.6973	10	0.42905	T	0.14	-14.8342	18.7275	0.91720	0.0:0.0:1.0:0.0	.	189;189;189	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	189	ENSP00000407720:E189K;ENSP00000398880:E189K	ENSP00000407720:E189K	E	+	1	0	CDK12	34872415	1.000000	0.71417	0.529000	0.27951	0.625000	0.37756	8.765000	0.91724	2.423000	0.82170	0.561000	0.74099	GAG		0.502	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4		NM_016507		8	28	0	0	0	0.004482	0	8	28		
COASY	80347	broad.mit.edu	37	17	40717318	40717318	+	Missense_Mutation	SNP	C	C	G	rs377301164		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:40717318C>G	ENST00000393818.2	+	6	1832	c.1376C>G	c.(1375-1377)gCt>gGt	p.A459G	MLX_ENST00000246912.4_5'Flank|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000449624.1_Missense_Mutation_p.A164G|MLX_ENST00000435881.2_5'Flank|COASY_ENST00000421097.2_Missense_Mutation_p.A459G|COASY_ENST00000590958.1_Missense_Mutation_p.A488G|COASY_ENST00000420359.1_Missense_Mutation_p.A459G	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	459	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		ATGGATCGGGCTGTGGCTGAG	0.577																																						uc002hzz.2		NaN																	0					0						c.(1375-1377)GCT>GGT		coenzyme A synthase isoform a							102.0	103.0	103.0					17																	40717318		2203	4300	6503	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40717318C>G	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1376C>G	17.37:g.40717318C>G	ENSP00000377406:p.Ala459Gly					COASY_uc010cyj.2_Missense_Mutation_p.A488G|COASY_uc002iab.2_Missense_Mutation_p.A164G|COASY_uc002iad.2_Missense_Mutation_p.A459G|COASY_uc002iac.2_Missense_Mutation_p.A459G|COASY_uc002iae.2_Missense_Mutation_p.A254G|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	p.A459G	NM_001042529	NP_001035994	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	7	1533	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	459			DPCK.		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.1376C>G	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207373	0.79240	.	.	ENSG00000068120	ENST00000421097;ENST00000449624;ENST00000420359;ENST00000393818	T;T;T	0.46451	0.87;0.87;0.87	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	M	0.86343	2.81	0.80722	D	1	D;D	0.69078	0.997;0.982	D;P	0.65874	0.939;0.867	T	0.66559	-0.5893	10	0.27785	T	0.31	-10.3933	16.7387	0.85454	0.0:1.0:0.0:0.0	.	488;459	Q13057-2;Q13057	.;COASY_HUMAN	G	488;164;459;459	ENSP00000407740:A164G;ENSP00000413338:A459G;ENSP00000377406:A459G	ENSP00000377406:A459G	A	+	2	0	COASY	37970844	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	6.260000	0.72502	2.649000	0.89929	0.556000	0.70494	GCT		0.577	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1		NM_025233		5	94	0	0	0	0.014758	0	5	94		
ITGA2B	3674	broad.mit.edu	37	17	42463435	42463435	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:42463435A>G	ENST00000262407.5	-	2	284	c.253T>C	c.(253-255)Ttc>Ctc	p.F85L	ITGA2B_ENST00000377068.3_5'Flank|ITGA2B_ENST00000353281.4_Missense_Mutation_p.F85L	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	85					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGGCACAGGAACACGCCGCCC	0.697																																						uc002igt.1		NaN																	0				ovary(2)|lung(1)	3						c.(253-255)TTC>CTC		integrin alpha 2b preproprotein	Tirofiban(DB00775)						20.0	25.0	23.0					17																	42463435		2201	4296	6497	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42463435A>G		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.253T>C	17.37:g.42463435A>G	ENSP00000262407:p.Phe85Leu						p.F85L	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	2	285	-		Prostate(33;0.0181)	85			Extracellular (Potential).|FG-GAP 1.		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.253T>C	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	A	35	5.492635	0.96339	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	D;D	0.91068	-2.78;-2.78	5.22	5.22	0.72569	.	0.000000	0.36932	N	0.002333	D	0.93236	0.7845	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	D	0.92269	0.5823	10	0.37606	T	0.19	.	11.4225	0.49989	1.0:0.0:0.0:0.0	.	85	P08514	ITA2B_HUMAN	L	85	ENSP00000262407:F85L;ENSP00000340536:F85L	ENSP00000262407:F85L	F	-	1	0	ITGA2B	39818961	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.375000	0.66173	2.185000	0.69588	0.459000	0.35465	TTC		0.697	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1				3	10	0	0	0	0.004672	0	3	10		
ITGB3	3690	broad.mit.edu	37	17	45387520	45387520	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45387520T>C	ENST00000559488.1	+	15	2333	c.2317T>C	c.(2317-2319)Tat>Cat	p.Y773H	ITGB3_ENST00000560629.1_Intron|ITGB3_ENST00000435993.2_Intron|RP11-290H9.4_ENST00000575039.1_RNA	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	773					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CAACCCACTGTATAAAGAGGC	0.448																																						uc002ilj.2		NaN																	0				central_nervous_system(5)|large_intestine(1)	6						c.(2317-2319)TAT>CAT		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)						181.0	141.0	154.0					17																	45387520		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45387520T>C		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.2317T>C	17.37:g.45387520T>C	ENSP00000452786:p.Tyr773His					ITGB3_uc010wkr.1_Intron	p.Y773H	NM_000212	NP_000203	P05106	ITB3_HUMAN			15	2337	+			773			Cytoplasmic (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.2317T>C	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782370	0.90282	.	.	ENSG00000178852	ENST00000262017	.	.	.	6.05	6.05	0.98169	Integrin beta subunit, cytoplasmic (2);	0.000000	0.85682	D	0.000000	D	0.85596	0.5733	M	0.92784	3.345	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.88967	0.3398	9	0.87932	D	0	.	15.5757	0.76380	0.0:0.0:0.0:1.0	.	773	P05106	ITB3_HUMAN	H	773	.	ENSP00000262017:Y773H	Y	+	1	0	C17orf57	42742519	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.265000	0.78442	2.320000	0.78422	0.528000	0.53228	TAT		0.448	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3		NM_000212		14	35	0	0	0	0.00499	0	14	35		
KPNB1	3837	broad.mit.edu	37	17	45727754	45727754	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45727754C>G	ENST00000290158.4	+	2	450	c.43C>G	c.(43-45)Cgg>Ggg	p.R15G	RP11-580I16.2_ENST00000580045.1_RNA|KPNB1_ENST00000540627.1_5'Flank|RP11-580I16.2_ENST00000582389.1_RNA|RP11-580I16.2_ENST00000584391.1_RNA|KPNB1_ENST00000535458.2_Intron|KPNB1_ENST00000577918.1_3'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	15					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CCCCCTAGATCGGCTGGAGCT	0.721																																						uc002ilt.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(43-45)CGG>GGG		karyopherin beta 1							16.0	18.0	17.0					17																	45727754		2203	4299	6502	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45727754C>G	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.43C>G	17.37:g.45727754C>G	ENSP00000290158:p.Arg15Gly					KPNB1_uc010wkw.1_5'Flank	p.R15G	NM_002265	NP_002256	Q14974	IMB1_HUMAN			2	379	+			15					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.43C>G	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261102	0.39995	.	.	ENSG00000108424	ENST00000290158	T	0.67345	-0.26	4.85	3.85	0.44370	Armadillo-like helical (1);Armadillo-type fold (1);	0.071934	0.56097	D	0.000024	T	0.41282	0.1152	N	0.08118	0	0.36006	D	0.837728	B	0.21452	0.056	B	0.20955	0.032	T	0.43893	-0.9363	9	0.21014	T	0.42	-5.2417	7.662	0.28409	0.1659:0.7466:0.0:0.0875	.	15	Q14974	IMB1_HUMAN	G	15	ENSP00000290158:R15G	ENSP00000290158:R15G	R	+	1	2	KPNB1	43082753	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	4.029000	0.57253	1.004000	0.39156	0.550000	0.68814	CGG		0.721	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2		NM_002265		4	12	0	0	0	0.009096	0	4	12		
MRPL10	124995	broad.mit.edu	37	17	45901691	45901691	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:45901691G>C	ENST00000351111.2	-	5	671	c.666C>G	c.(664-666)ctC>ctG	p.L222L	OSBPL7_ENST00000392507.3_5'Flank|MRPL10_ENST00000290208.7_Silent_p.L232L|MRPL10_ENST00000414011.1_Silent_p.L232L|OSBPL7_ENST00000007414.3_5'Flank	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	222					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCTGGTGCTGGAGCAGGGAGT	0.607																																						uc002ilz.2		NaN																	0				ovary(1)	1						c.(664-666)CTC>CTG		mitochondrial ribosomal protein L10 precursor							78.0	63.0	68.0					17																	45901691		2203	4300	6503	SO:0001819	synonymous_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45901691G>C	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.666C>G	17.37:g.45901691G>C						OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Silent_p.L183L|MRPL10_uc002ily.2_Silent_p.L232L	p.L222L	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN			5	692	-			222					A6NGJ4|Q96B80|Q96Q55	Silent	SNP	ENST00000351111.2	37	c.666C>G	CCDS11516.1																																																																																				0.607	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1		NM_145255		13	42	0	0	0	0.020292	0	13	42		
ANKFN1	162282	broad.mit.edu	37	17	54526504	54526504	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:54526504G>A	ENST00000318698.2	+	10	1208	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L	ANKFN1_ENST00000566473.2_Silent_p.L391L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	391										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGGAAGGTCTGCTGCAGCAGG	0.468																																						uc002iun.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1171-1173)CTG>CTA		ankyrin-repeat and fibronectin type III domain							113.0	111.0	112.0					17																	54526504		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54526504G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1173G>A	17.37:g.54526504G>A							p.L391L	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			10	1208	+			391						Silent	SNP	ENST00000318698.2	37	c.1173G>A	CCDS32686.1																																																																																				0.468	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1		NM_153228		17	47	0	0	0	0.008871	0	17	47		
BCAS3	54828	broad.mit.edu	37	17	59067473	59067473	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:59067473A>G	ENST00000390652.5	+	15	1394	c.1363A>G	c.(1363-1365)Atg>Gtg	p.M455V	BCAS3_ENST00000408905.3_Missense_Mutation_p.M455V|BCAS3_ENST00000588874.1_Missense_Mutation_p.M226V|BCAS3_ENST00000588462.1_Missense_Mutation_p.M455V|BCAS3_ENST00000407086.3_Missense_Mutation_p.M455V|BCAS3_ENST00000585744.1_Missense_Mutation_p.M226V|BCAS3_ENST00000589222.1_Missense_Mutation_p.M455V	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTGAATCGCATGAGCCGTTT	0.512																																						uc002iyv.3		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1363-1365)ATG>GTG		breast carcinoma amplified sequence 3 isoform 1							79.0	81.0	80.0					17																	59067473		1978	4160	6138	SO:0001583	missense	54828					nucleus		g.chr17:59067473A>G	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1363A>G	17.37:g.59067473A>G	ENSP00000375067:p.Met455Val					BCAS3_uc010wow.1_Missense_Mutation_p.M242V|BCAS3_uc002iyu.3_Missense_Mutation_p.M455V|BCAS3_uc002iyw.3_Missense_Mutation_p.M451V|BCAS3_uc002iyx.1_Missense_Mutation_p.M270V|BCAS3_uc002iyy.3_Missense_Mutation_p.M226V|BCAS3_uc002iyz.3_Missense_Mutation_p.M9V|BCAS3_uc002iza.3_Missense_Mutation_p.M9V	p.M455V	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		15	1472	+			455						Missense_Mutation	SNP	ENST00000390652.5	37	c.1363A>G	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443525	0.43429	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207;ENST00000405217	T;T;T	0.28895	1.6;1.59;1.59	5.38	5.38	0.77491	.	0.037627	0.85682	D	0.000000	T	0.33933	0.0880	N	0.19112	0.55	0.47819	D	0.999523	B;B;B;B;B;B;B	0.34399	0.047;0.032;0.032;0.006;0.452;0.323;0.007	B;B;B;B;P;B;B	0.47786	0.008;0.015;0.015;0.006;0.557;0.354;0.01	T	0.23868	-1.0176	10	0.45353	T	0.12	.	15.6742	0.77303	1.0:0.0:0.0:0.0	.	246;455;455;260;455;455;455	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;.;BCAS3_HUMAN;.	V	455;455;455;455;247;260	ENSP00000375067:M455V;ENSP00000385323:M455V;ENSP00000386173:M455V	ENSP00000353336:M247V	M	+	1	0	BCAS3	56422255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.771000	0.74996	2.153000	0.67306	0.482000	0.46254	ATG		0.512	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1		NM_017679		17	38	0	0	0	0.004007	0	17	38		
LRRC37A3	374819	broad.mit.edu	37	17	62864655	62864655	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:62864655C>G	ENST00000584306.1	-	9	3509		c.e9-1		RN7SL404P_ENST00000582421.1_RNA|LRRC37A3_ENST00000319651.5_Splice_Site|LRRC37A3_ENST00000339474.5_Splice_Site|LRRC37A3_ENST00000400877.3_Splice_Site	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3							integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCCCATGTCTCTGAAGAAGAA	0.353																																						uc002jey.2		NaN																	0					0						c.e9-1		leucine rich repeat containing 37, member A3							43.0	46.0	45.0					17																	62864655		2187	4269	6456	SO:0001630	splice_region_variant	374819					integral to membrane		g.chr17:62864655C>G	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.2979-1G>C	17.37:g.62864655C>G						LRRC37A3_uc010wqg.1_Splice_Site_p.L111_splice|LRRC37A3_uc010wqf.1_Splice_Site_p.L31_splice|LRRC37A3_uc010dek.1_Splice_Site	p.L993_splice	NM_199340	NP_955372	O60309	L37A3_HUMAN			9	3510	-								Q49A01|Q49A80|Q8NB33	Splice_Site	SNP	ENST00000584306.1	37	c.2979_splice	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	c	4.207	0.037260	0.08148	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000319651	.	.	.	2.69	2.69	0.31865	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9171	0.35587	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRC37A3	60295117	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	3.392000	0.52537	1.505000	0.48720	0.205000	0.17691	.		0.353	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1		NM_199340	Intron	21	69	0	0	0	0.005443	0	21	69		
NUP85	79902	broad.mit.edu	37	17	73231679	73231679	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr17:73231679G>A	ENST00000245544.4	+	19	1947	c.1876G>A	c.(1876-1878)Gac>Aac	p.D626N	NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.D580N|NUP85_ENST00000579324.1_Missense_Mutation_p.D514N|NUP85_ENST00000540768.1_Missense_Mutation_p.D229N|NUP85_ENST00000579298.1_Missense_Mutation_p.D581N	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	626					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GCAGGATGATGACATAGAGAC	0.502																																						uc002jng.1		NaN																	0				ovary(1)	1						c.(1876-1878)GAC>AAC		nucleoporin 85							74.0	70.0	72.0					17																	73231679		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73231679G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1876G>A	17.37:g.73231679G>A	ENSP00000245544:p.Asp626Asn					NUP85_uc010dgd.1_Missense_Mutation_p.D581N|NUP85_uc010wrv.1_Missense_Mutation_p.D580N|NUP85_uc002jnh.1_Missense_Mutation_p.D229N	p.D626N	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		19	2136	+	all_lung(278;0.14)|Lung NSC(278;0.168)		626					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.1876G>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318163	0.60524	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000540768	.	.	.	5.91	5.91	0.95273	.	0.093418	0.64402	D	0.000001	T	0.38081	0.1027	N	0.08118	0	0.80722	D	1	P;P	0.46395	0.877;0.877	B;P	0.45829	0.417;0.494	T	0.21245	-1.0251	9	0.23891	T	0.37	-34.1885	15.0617	0.71961	0.0:0.0:0.8582:0.1418	.	580;626	B4DMQ3;Q9BW27	.;NUP85_HUMAN	N	626;580;229	.	ENSP00000245544:D626N	D	+	1	0	NUP85	70743274	1.000000	0.71417	0.781000	0.31783	0.432000	0.31715	5.845000	0.69437	2.793000	0.96121	0.655000	0.94253	GAC		0.502	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1		NM_024844		19	31	0	0	0	0.014323	0	19	31		
COLEC12	81035	broad.mit.edu	37	18	346369	346369	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:346369G>A	ENST00000400256.3	-	5	1460	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	418					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CATAATCACTGATAAGTTGGC	0.378																																						uc002kkm.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1252-1254)TCA>TTA		collectin sub-family member 12							120.0	110.0	113.0					18																	346369		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346369G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1253C>T	18.37:g.346369G>A	ENSP00000383115:p.Ser418Leu						p.S418L	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1468	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	418			Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1253C>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460941	0.63513	.	.	ENSG00000158270	ENST00000400256	T	0.42900	0.96	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.58853	-0.7563	10	0.66056	D	0.02	-11.8532	19.4997	0.95089	0.0:0.0:1.0:0.0	.	418	Q5KU26	COL12_HUMAN	L	418	ENSP00000383115:S418L	ENSP00000383115:S418L	S	-	2	0	COLEC12	336369	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.414000	0.97362	2.611000	0.88343	0.655000	0.94253	TCA		0.378	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1				7	53	0	0	0	0.001984	0	7	53		
MYOM1	8736	broad.mit.edu	37	18	3119940	3119940	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:3119940G>A	ENST00000356443.4	-	20	3378	c.3045C>T	c.(3043-3045)aaC>aaT	p.N1015N	MYOM1_ENST00000400569.3_Silent_p.N1015N|MYOM1_ENST00000261606.7_Silent_p.N919N|MYOM1_ENST00000582016.1_5'Flank	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1015	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCCAGCCATGTTCATGGCTG	0.502																																						uc002klp.2		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3043-3045)AAC>AAT		myomesin 1 isoform a							34.0	37.0	36.0					18																	3119940		1962	4143	6105	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3119940G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3045C>T	18.37:g.3119940G>A						MYOM1_uc002klq.2_Silent_p.N919N	p.N1015N	NM_003803	NP_003794	P52179	MYOM1_HUMAN			20	3379	-			1015			Fibronectin type-III 4.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.3045C>T	CCDS45824.1																																																																																				0.502	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2		NM_003803		3	4	0	0	0	0.014758	0	3	4		
LAMA3	3909	broad.mit.edu	37	18	21395492	21395492	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:21395492G>C	ENST00000313654.9	+	17	2243	c.2002G>C	c.(2002-2004)Gat>Cat	p.D668H	LAMA3_ENST00000399516.3_Missense_Mutation_p.D668H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	668	Domain V.|Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CACCTGTGAAGATGGATATTT	0.453																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2002-2004)GAT>CAT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						106.0	110.0	109.0					18																	21395492		1995	4182	6177	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21395492G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2002G>C	18.37:g.21395492G>C	ENSP00000324532:p.Asp668His					LAMA3_uc002kur.2_Missense_Mutation_p.D668H	p.D668H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			17	2088	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		668			Domain V.|Laminin EGF-like 7.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2002G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467046	0.84533	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.62498	0.02;0.02	5.84	4.97	0.65823	EGF-like, laminin (4);	.	.	.	.	T	0.80314	0.4600	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74023	0.982;0.961	T	0.82497	-0.0428	9	0.48119	T	0.1	.	14.7227	0.69320	0.0691:0.0:0.9309:0.0	.	668;668	Q6VU67;Q16787	.;LAMA3_HUMAN	H	668;668;666	ENSP00000324532:D668H;ENSP00000382432:D668H	ENSP00000324532:D668H	D	+	1	0	LAMA3	19649490	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.366000	0.73095	1.480000	0.48289	0.655000	0.94253	GAT		0.453	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		9	36	0	0	0	0.004482	0	9	36		
LAMA3	3909	broad.mit.edu	37	18	21396406	21396406	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:21396406G>T	ENST00000313654.9	+	18	2343	c.2102G>T	c.(2101-2103)gGa>gTa	p.G701V	LAMA3_ENST00000399516.3_Missense_Mutation_p.G701V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	701	Domain V.|Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGGCCCTCGGGAGTGTGCCAG	0.552																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(2101-2103)GGA>GTA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						153.0	175.0	167.0					18																	21396406		2138	4228	6366	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21396406G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2102G>T	18.37:g.21396406G>T	ENSP00000324532:p.Gly701Val					LAMA3_uc002kur.2_Missense_Mutation_p.G701V	p.G701V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			18	2188	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		701			Domain V.|Laminin EGF-like 8.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2102G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316580	0.60524	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.75938	-0.98;-0.98	5.5	5.5	0.81552	EGF-like, laminin (3);	.	.	.	.	D	0.91529	0.7325	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93951	0.7232	9	0.72032	D	0.01	.	18.3201	0.90236	0.0:0.0:1.0:0.0	.	701;701	Q6VU67;Q16787	.;LAMA3_HUMAN	V	701;701;699	ENSP00000324532:G701V;ENSP00000382432:G701V	ENSP00000324532:G701V	G	+	2	0	LAMA3	19650404	1.000000	0.71417	0.171000	0.22900	0.088000	0.18126	8.562000	0.90719	2.758000	0.94735	0.561000	0.74099	GGA		0.552	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		10	28	1	0	2.68362e-12	0.013537	2.89174e-12	10	28		
SLC14A2	8170	broad.mit.edu	37	18	43205653	43205653	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr18:43205653C>G	ENST00000255226.6	+	3	972	c.156C>G	c.(154-156)ctC>ctG	p.L52L	SLC14A2_ENST00000586448.1_Silent_p.L52L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	52					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAAGGATCTCCGGTCTTCCA	0.468																																						uc010dnj.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(154-156)CTC>CTG		solute carrier family 14 (urea transporter),							46.0	44.0	45.0					18																	43205653		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43205653C>G	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.156C>G	18.37:g.43205653C>G						SLC14A2_uc002lbb.2_Silent_p.L52L|SLC14A2_uc002lbe.2_Silent_p.L52L	p.L52L	NM_007163	NP_009094	Q15849	UT2_HUMAN			4	477	+			52					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.156C>G	CCDS11924.1																																																																																				0.468	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1				10	20	0	0	0	0.010729	0	10	20		
ZNF266	10781	broad.mit.edu	37	19	9528554	9528554	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:9528554G>A	ENST00000592904.1	-	3	2141	c.65C>T	c.(64-66)tCt>tTt	p.S22F	ZNF266_ENST00000590306.1_Missense_Mutation_p.S22F|ZNF266_ENST00000361451.2_Missense_Mutation_p.S22F|ZNF266_ENST00000361151.1_Missense_Mutation_p.S22F|ZNF266_ENST00000588221.1_Missense_Mutation_p.S22F|ZNF266_ENST00000592292.1_Missense_Mutation_p.S22F|ZNF266_ENST00000588933.1_Missense_Mutation_p.S22F			Q14584	ZN266_HUMAN	zinc finger protein 266	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTCCAGCCAAGAGATCAGACT	0.433																																						uc002mll.2		NaN																	0				ovary(1)	1						c.(64-66)TCT>TTT		zinc finger protein 266							194.0	186.0	189.0					19																	9528554		2203	4300	6503	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9528554G>A	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.65C>T	19.37:g.9528554G>A	ENSP00000466714:p.Ser22Phe					ZNF266_uc002mlm.2_Missense_Mutation_p.S22F|ZNF266_uc002mln.2_Missense_Mutation_p.S22F|ZNF266_uc002mlo.2_Missense_Mutation_p.S22F|ZNF266_uc010dwp.2_Missense_Mutation_p.S22F|ZNF266_uc010dwq.2_Missense_Mutation_p.S22F	p.S22F	NM_198058	NP_932175	Q14584	ZN266_HUMAN			2	331	-			22			KRAB.		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.65C>T	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797125	0.70567	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.00864	5.6;5.6	2.41	2.41	0.29592	Krueppel-associated box (2);	.	.	.	.	T	0.02230	0.0069	L	0.41824	1.3	0.09310	N	1	D	0.76494	0.999	D	0.65987	0.94	T	0.55412	-0.8145	9	0.23302	T	0.38	.	8.4272	0.32735	0.0:0.0:1.0:0.0	.	22	Q14584	ZN266_HUMAN	F	22	ENSP00000354680:S22F;ENSP00000355047:S22F	ENSP00000355047:S22F	S	-	2	0	ZNF266	9389554	0.006000	0.16342	0.010000	0.14722	0.961000	0.63080	0.479000	0.22228	1.658000	0.50742	0.591000	0.81541	TCT		0.433	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1				44	89	0	0	0	0.011902	0	44	89		
ZNF121	7675	broad.mit.edu	37	19	9676748	9676748	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:9676748T>A	ENST00000586602.1	-	6	1457	c.1041A>T	c.(1039-1041)aaA>aaT	p.K347N	ZNF121_ENST00000320451.6_Missense_Mutation_p.K347N			P58317	ZN121_HUMAN	zinc finger protein 121	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CACGGAAGGTTTTCCCACATT	0.388																																						uc010xkp.1		NaN																	0				ovary(1)	1						c.(1039-1041)AAA>AAT		zinc finger protein 121							94.0	86.0	89.0					19																	9676748		2203	4300	6503	SO:0001583	missense	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9676748T>A	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.1041A>T	19.37:g.9676748T>A	ENSP00000468643:p.Lys347Asn					ZNF121_uc010dwt.2_Missense_Mutation_p.K347N|ZNF121_uc010xkq.1_Missense_Mutation_p.K347N	p.K347N	NM_001008727	NP_001008727	P58317	ZN121_HUMAN			4	1273	-			347			C2H2-type 10.			Missense_Mutation	SNP	ENST00000586602.1	37	c.1041A>T		.	.	.	.	.	.	.	.	.	.	T	19.17	3.774946	0.70107	.	.	ENSG00000197961	ENST00000320451	T	0.07908	3.15	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33089	0.0851	M	0.93197	3.39	0.24831	N	0.992529	D	0.89917	1.0	D	0.97110	1.0	T	0.04900	-1.0919	9	0.72032	D	0.01	.	6.6743	0.23085	0.0:0.0:0.0:1.0	.	347	P58317	ZN121_HUMAN	N	347	ENSP00000326967:K347N	ENSP00000326967:K347N	K	-	3	2	ZNF121	9537748	0.000000	0.05858	0.034000	0.17996	0.975000	0.68041	-0.397000	0.07269	0.849000	0.35215	0.397000	0.26171	AAA		0.388	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1		NM_001008727		16	36	0	0	0	0.004007	0	16	36		
ANGPTL6	83854	broad.mit.edu	37	19	10204373	10204373	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:10204373T>C	ENST00000253109.4	-	4	1185	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	ANGPTL6_ENST00000589181.1_Intron|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.Y316C	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	316	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)		p.Y316C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GCCCACCTTATAGTGCTGCCA	0.607																																						uc002mmx.1		NaN																	1	Substitution - Missense(1)		pancreas(1)		0						c.(946-948)TAT>TGT		angiopoietin-like 6 precursor							101.0	90.0	94.0					19																	10204373		2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204373T>C	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.947A>G	19.37:g.10204373T>C	ENSP00000253109:p.Tyr316Cys					ANGPTL6_uc002mmy.1_Missense_Mutation_p.Y316C	p.Y316C	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		4	1065	-			316			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.947A>G	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715218	0.68844	.	.	ENSG00000130812	ENST00000253109	D	0.92965	-3.14	4.6	4.6	0.57074	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.64402	D	0.000001	D	0.97663	0.9234	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98602	1.0659	10	0.87932	D	0	.	13.124	0.59342	0.0:0.0:0.0:1.0	.	316	Q8NI99	ANGL6_HUMAN	C	316	ENSP00000253109:Y316C	ENSP00000253109:Y316C	Y	-	2	0	ANGPTL6	10065373	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.822000	0.86651	1.951000	0.56629	0.397000	0.26171	TAT		0.607	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1		NM_031917		12	57	0	0	0	0.010729	0	12	57		
ICAM1	3383	broad.mit.edu	37	19	10395527	10395527	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:10395527C>G	ENST00000264832.3	+	6	1574	c.1249C>G	c.(1249-1251)Cca>Gca	p.P417A	ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.P195A|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	417	Ig-like C2-type 5.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CCAGCAGACTCCAATGTGCCA	0.557																																						uc002mnq.2		NaN																	0				ovary(1)	1						c.(1249-1251)CCA>GCA		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						53.0	55.0	54.0					19																	10395527		2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395527C>G		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1249C>G	19.37:g.10395527C>G	ENSP00000264832:p.Pro417Ala					ICAM1_uc010xle.1_Missense_Mutation_p.P195A|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.P417A	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		6	1568	+			417			Extracellular (Potential).|Ig-like C2-type 5.		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.1249C>G	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	9.615	1.132172	0.21041	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.14766	2.48;2.48	4.16	3.11	0.35812	Immunoglobulin-like fold (1);	2.218660	0.03015	N	0.149897	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B;B	0.17852	0.024;0.001	B;B	0.10450	0.004;0.005	T	0.24154	-1.0168	10	0.62326	D	0.03	-3.5795	10.0034	0.41942	0.0:0.7937:0.2063:0.0	.	195;417	E7ESS4;P05362	.;ICAM1_HUMAN	A	417;195	ENSP00000264832:P417A;ENSP00000413124:P195A	ENSP00000264832:P417A	P	+	1	0	ICAM1	10256527	0.018000	0.18449	0.129000	0.21949	0.008000	0.06430	0.977000	0.29475	1.086000	0.41228	0.462000	0.41574	CCA		0.557	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1				15	34	0	0	0	0.003163	0	15	34		
ICAM1	3383	broad.mit.edu	37	19	10395565	10395565	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:10395565C>G	ENST00000264832.3	+	6	1612	c.1287C>G	c.(1285-1287)ctC>ctG	p.L429L	ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Silent_p.L207L|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	429	Ig-like C2-type 5.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	TGCCCGAGCTCAAGTGTCTAA	0.582																																						uc002mnq.2		NaN																	0				ovary(1)	1						c.(1285-1287)CTC>CTG		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						54.0	55.0	54.0					19																	10395565		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395565C>G		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1287C>G	19.37:g.10395565C>G						ICAM1_uc010xle.1_Silent_p.L207L|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.L429L	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		6	1606	+			429			Extracellular (Potential).|Ig-like C2-type 5.		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.1287C>G	CCDS12231.1																																																																																				0.582	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1				13	25	0	0	0	0.016723	0	13	25		
EPOR	2057	broad.mit.edu	37	19	11488763	11488763	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:11488763C>T	ENST00000222139.6	-	8	1528	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	475					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CCCTTGGGCTCCCTGGGAGTC	0.592											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mrj.1		NaN																	0				ovary(1)	1						c.(1423-1425)GGA>GAA		erythropoietin receptor precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						82.0	90.0	87.0					19																	11488763		2203	4299	6502	SO:0001583	missense	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11488763C>T	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1424G>A	19.37:g.11488763C>T	ENSP00000222139:p.Gly475Glu		OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_uc002mrh.2_Missense_Mutation_p.G134E|EPOR_uc002mri.2_Missense_Mutation_p.G302E|EPOR_uc002mrk.1_Missense_Mutation_p.G302E|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Missense_Mutation_p.G302E	p.G475E	NM_000121	NP_000112	P19235	EPOR_HUMAN			8	1560	-			475			Cytoplasmic (Potential).		B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	c.1424G>A	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	C	7.319	0.616670	0.14129	.	.	ENSG00000187266	ENST00000222139	T	0.44083	0.93	4.29	2.13	0.27403	.	0.540328	0.15448	N	0.261813	T	0.18635	0.0447	N	0.17082	0.46	0.23923	N	0.996454	B	0.13145	0.007	B	0.15484	0.013	T	0.30446	-0.9978	10	0.02654	T	1	-35.3827	3.9863	0.09517	0.0:0.5762:0.1964:0.2274	.	475	P19235	EPOR_HUMAN	E	475	ENSP00000222139:G475E	ENSP00000222139:G475E	G	-	2	0	EPOR	11349763	0.032000	0.19561	0.470000	0.27216	0.903000	0.53119	-0.067000	0.11579	0.419000	0.25927	0.555000	0.69702	GGA		0.592	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1				32	85	0	0	0	0.013726	0	32	85		
C19orf44	84167	broad.mit.edu	37	19	16614092	16614092	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:16614092T>G	ENST00000221671.3	+	3	1132	c.976T>G	c.(976-978)Tta>Gta	p.L326V	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.L326V	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	326										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTCAGTGTCTTTAAAGATGGG	0.562																																						uc002neh.1		NaN																	0					0						c.(976-978)TTA>GTA		hypothetical protein LOC84167							88.0	88.0	88.0					19																	16614092		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16614092T>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.976T>G	19.37:g.16614092T>G	ENSP00000221671:p.Leu326Val					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.L326V|C19orf44_uc002neg.2_Missense_Mutation_p.L326V|C19orf44_uc010eai.1_RNA	p.L326V	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			3	1049	+			326					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.976T>G	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	T	7.131	0.579944	0.13686	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.24	1.62	0.23740	.	1.770020	0.03569	N	0.228344	T	0.25754	0.0627	L	0.29908	0.895	0.09310	N	1	B;B	0.33171	0.248;0.4	B;B	0.33690	0.067;0.168	T	0.16335	-1.0406	9	0.30854	T	0.27	-2.1065	1.8473	0.03162	0.4047:0.1786:0.0:0.4167	.	326;326	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	V	326	.	ENSP00000221671:L326V	L	+	1	2	C19orf44	16475092	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.603000	0.24149	0.312000	0.23038	0.533000	0.62120	TTA		0.562	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1		NM_032207		21	54	0	0	0	0.010504	0	21	54		
PLVAP	83483	broad.mit.edu	37	19	17476312	17476312	+	Missense_Mutation	SNP	G	G	A	rs376519104		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:17476312G>A	ENST00000252590.4	-	3	1023	c.962C>T	c.(961-963)gCg>gTg	p.A321V	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTCTGTTTCGCCTCCTGACT	0.667																																						uc002ngk.1		NaN																	0					0						c.(961-963)GCG>GTG		plasmalemma vesicle associated protein		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	45.0	39.0	41.0		962	4.3	0.2	19		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLVAP	NM_031310.1	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	321/443	17476312	2,13004	2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476312G>A	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.962C>T	19.37:g.17476312G>A	ENSP00000252590:p.Ala321Val						p.A321V	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	1012	-			321			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.962C>T	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696651	0.30142	2.27E-4	1.16E-4	ENSG00000130300	ENST00000252590	.	.	.	5.42	4.3	0.51218	.	0.632389	0.17342	N	0.177726	T	0.50222	0.1603	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.31861	-0.9928	9	0.40728	T	0.16	-30.5233	12.108	0.53823	0.0:0.0:0.8169:0.1831	.	321	Q9BX97	PLVAP_HUMAN	V	321	.	ENSP00000252590:A321V	A	-	2	0	PLVAP	17337312	0.434000	0.25570	0.229000	0.23960	0.026000	0.11368	0.874000	0.28065	2.545000	0.85829	0.462000	0.41574	GCG		0.667	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1		NM_031310		4	33	0	0	0	0.009096	0	4	33		
ZNF208	7757	broad.mit.edu	37	19	22154750	22154750	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:22154750T>C	ENST00000397126.4	-	4	3234	c.3086A>G	c.(3085-3087)tAc>tGc	p.Y1029C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1029					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACATTTGTAGGGTGTCTC	0.418																																						uc002nqp.2		NaN																	0				ovary(5)|skin(2)	7						c.(2701-2703)TAC>TGC		zinc finger protein 208							90.0	98.0	95.0					19																	22154750		2139	4253	6392	SO:0001583	missense	7757							g.chr19:22154750T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3086A>G	19.37:g.22154750T>C	ENSP00000380315:p.Tyr1029Cys					ZNF208_uc002nqo.1_Intron	p.Y901C	NM_007153	NP_009084					6	2851	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2702A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443643	0.25987	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.25414	1.8	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35189	0.0923	.	.	.	0.09310	N	1	D	0.63880	0.993	P	0.55785	0.784	T	0.11518	-1.0584	8	0.66056	D	0.02	.	5.7966	0.18389	0.2378:0.0:0.0:0.7622	.	901	O43345	ZN208_HUMAN	C	1029;901	ENSP00000380315:Y1029C	ENSP00000380315:Y1029C	Y	-	2	0	ZNF208	21946590	0.000000	0.05858	0.008000	0.14137	0.066000	0.16364	-0.675000	0.05227	0.848000	0.35191	0.240000	0.17902	TAC		0.418	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1		NM_007153		24	47	0	0	0	0.01892	0	24	47		
MAP4K1	11184	broad.mit.edu	37	19	39106878	39106878	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:39106878G>A	ENST00000591517.1	-	4	298	c.270C>T	c.(268-270)tgC>tgT	p.C90C	MAP4K1_ENST00000396857.2_Silent_p.C90C|EIF3K_ENST00000588934.1_5'Flank|EIF3K_ENST00000538434.1_5'Flank|MAP4K1_ENST00000586296.1_Silent_p.C90C|EIF3K_ENST00000593149.1_5'Flank|EIF3K_ENST00000248342.4_5'Flank|EIF3K_ENST00000592558.1_5'Flank|MAP4K1_ENST00000423454.2_5'Flank|EIF3K_ENST00000545173.2_5'Flank|MAP4K1_ENST00000589130.1_Silent_p.C86C|MAP4K1_ENST00000589002.1_5'Flank	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAATTCCATGCAGATCCAGA	0.488																																						uc002oix.1		NaN																	0				skin(4)|lung(3)|ovary(1)	8						c.(268-270)TGC>TGT		mitogen-activated protein kinase kinase kinase							73.0	71.0	72.0					19																	39106878		1845	4094	5939	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39106878G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.270C>T	19.37:g.39106878G>A						MAP4K1_uc002oiy.1_Silent_p.C90C|MAP4K1_uc010xug.1_5'Flank|EIF3K_uc010xuh.1_5'Flank|EIF3K_uc002oiz.1_5'Flank|EIF3K_uc010xui.1_5'Flank	p.C90C	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	378	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		90			Protein kinase.			Silent	SNP	ENST00000591517.1	37	c.270C>T	CCDS59385.1																																																																																				0.488	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1		NM_001042600		10	24	0	0	0	0.008291	0	10	24		
ZC3H4	23211	broad.mit.edu	37	19	47572355	47572355	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:47572355C>T	ENST00000253048.5	-	14	2429	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	798							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GTGCCTTCCTCATTCTCCCGG	0.677																																						uc002pga.3		NaN																	0				skin(4)|ovary(2)	6						c.(2392-2394)GAG>AAG		zinc finger CCCH-type containing 4							89.0	102.0	98.0					19																	47572355		2070	4194	6264	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47572355C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2392G>A	19.37:g.47572355C>T	ENSP00000253048:p.Glu798Lys					ZC3H4_uc002pgb.1_Intron	p.E798K	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2430	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	798			Potential.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2392G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526302	0.85600	.	.	ENSG00000130749	ENST00000253048	T	0.20738	2.05	5.56	4.53	0.55603	.	1.334620	0.04886	N	0.448654	T	0.32010	0.0815	M	0.68317	2.08	0.39203	D	0.963172	D	0.59357	0.985	B	0.44224	0.444	T	0.36407	-0.9749	10	0.52906	T	0.07	.	12.7714	0.57423	0.0:0.9195:0.0:0.0805	.	798	Q9UPT8	ZC3H4_HUMAN	K	798	ENSP00000253048:E798K	ENSP00000253048:E798K	E	-	1	0	ZC3H4	52264195	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.475000	0.66787	2.619000	0.88677	0.491000	0.48974	GAG		0.677	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1				38	95	0	0	0	0.00623	0	38	95		
ZNF667	63934	broad.mit.edu	37	19	56953098	56953098	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:56953098C>T	ENST00000504904.3	-	7	1985	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	ZNF667_ENST00000342634.3_Silent_p.K550K|ZNF667_ENST00000292069.6_Silent_p.K422K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	422					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.K422K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CAGAAAACATCTTCCCACATT	0.343																																						uc002qnd.2		NaN																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1264-1266)AAG>AAA		zinc finger protein 667							54.0	53.0	53.0					19																	56953098		2203	4300	6503	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953098C>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1266G>A	19.37:g.56953098C>T						ZNF667_uc010etl.2_Silent_p.K204K|ZNF667_uc002qne.2_Silent_p.K422K|ZNF667_uc010etm.2_Silent_p.K365K	p.K422K	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1428	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	422			C2H2-type 9.		B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.1266G>A	CCDS12944.1																																																																																				0.343	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1		NM_022103		10	19	0	0	0	0.006214	0	10	19		
ZSCAN1	284312	broad.mit.edu	37	19	58564970	58564970	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr19:58564970C>T	ENST00000282326.1	+	6	1025	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	260					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGAGCGGCCGCCACCAGCC	0.627																																						uc002qrc.1		NaN																	0				ovary(2)	2						c.(778-780)CGC>TGC		zinc finger and SCAN domain containing 1							64.0	66.0	65.0					19																	58564970		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58564970C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.778C>T	19.37:g.58564970C>T	ENSP00000282326:p.Arg260Cys						p.R260C	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1025	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	260					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.778C>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	7.605	0.673607	0.14776	.	.	ENSG00000152467	ENST00000282326	T	0.04758	3.56	1.14	-0.0324	0.13905	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	B	0.39503	0.301	T	0.45512	-0.9256	9	0.72032	D	0.01	.	4.2252	0.10577	0.4355:0.5645:0.0:0.0	.	260	Q8NBB4	ZSCA1_HUMAN	C	260	ENSP00000282326:R260C	ENSP00000282326:R260C	R	+	1	0	ZSCAN1	63256782	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	-0.966000	0.03825	0.010000	0.14839	0.491000	0.48974	CGC		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1		NM_182572		6	39	0	0	0	0.001168	0	6	39		
C2orf43	60526	broad.mit.edu	37	2	20901362	20901362	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:20901362C>T	ENST00000237822.3	-	6	833	c.754G>A	c.(754-756)Gat>Aat	p.D252N	C2orf43_ENST00000381090.3_Missense_Mutation_p.D252N|C2orf43_ENST00000403006.2_Missense_Mutation_p.D122N|C2orf43_ENST00000440866.2_3'UTR|C2orf43_ENST00000541941.1_Missense_Mutation_p.D122N|C2orf43_ENST00000435420.2_Missense_Mutation_p.D204N	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	252										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTCGTCATCTCTCTTCACC	0.383																																						uc002rec.2		NaN																	0					0						c.(754-756)GAT>AAT		hypothetical protein LOC60526							300.0	292.0	295.0					2																	20901362		2203	4300	6503	SO:0001583	missense	60526							g.chr2:20901362C>T	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.754G>A	2.37:g.20901362C>T	ENSP00000237822:p.Asp252Asn					C2orf43_uc002rea.1_Missense_Mutation_p.D252N|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_3'UTR|C2orf43_uc010ykb.1_Missense_Mutation_p.D122N|C2orf43_uc010ykc.1_Missense_Mutation_p.D204N|C2orf43_uc010ykd.1_3'UTR|C2orf43_uc010yke.1_Missense_Mutation_p.D210N|C2orf43_uc010ykf.1_Missense_Mutation_p.D122N	p.D252N	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN			6	787	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		252					B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	c.754G>A	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264546	0.80358	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947	T;T;T	0.39056	1.1;1.57;1.1	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	M	0.75264	2.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.60979	-0.7155	10	0.38643	T	0.18	-21.5674	14.956	0.71113	0.0:1.0:0.0:0.0	.	210;204;252;252	B4DS38;B7ZAJ5;Q9H6V9;B5MDU6	.;.;CB043_HUMAN;.	N	122;252;252;204;122;122	ENSP00000384267:D122N;ENSP00000388635:D204N;ENSP00000440570:D122N	ENSP00000237822:D252N	D	-	1	0	C2orf43	20764843	1.000000	0.71417	0.996000	0.52242	0.573000	0.36030	3.839000	0.55835	2.818000	0.97014	0.655000	0.94253	GAT		0.383	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1		NM_021925		40	125	0	0	0	0.013114	0	40	125		
C2orf43	60526	broad.mit.edu	37	2	20901369	20901369	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:20901369C>T	ENST00000237822.3	-	6	826	c.747G>A	c.(745-747)gtG>gtA	p.V249V	C2orf43_ENST00000381090.3_Silent_p.V249V|C2orf43_ENST00000403006.2_Silent_p.V119V|C2orf43_ENST00000440866.2_3'UTR|C2orf43_ENST00000541941.1_Silent_p.V119V|C2orf43_ENST00000435420.2_Silent_p.V201V	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	249										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTCTCTTCACCACCTCCA	0.373																																						uc002rec.2		NaN																	0					0						c.(745-747)GTG>GTA		hypothetical protein LOC60526							295.0	286.0	289.0					2																	20901369		2203	4300	6503	SO:0001819	synonymous_variant	60526							g.chr2:20901369C>T	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.747G>A	2.37:g.20901369C>T						C2orf43_uc002rea.1_Silent_p.V249V|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_3'UTR|C2orf43_uc010ykb.1_Silent_p.V119V|C2orf43_uc010ykc.1_Silent_p.V201V|C2orf43_uc010ykd.1_3'UTR|C2orf43_uc010yke.1_Silent_p.V207V|C2orf43_uc010ykf.1_Silent_p.V119V	p.V249V	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN			6	780	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		249					B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Silent	SNP	ENST00000237822.3	37	c.747G>A	CCDS1702.1																																																																																				0.373	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1		NM_021925		41	127	0	0	0	0.011902	0	41	127		
NCOA1	8648	broad.mit.edu	37	2	24930108	24930108	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:24930108C>G	ENST00000406961.1	+	13	2421	c.1769C>G	c.(1768-1770)tCa>tGa	p.S590*	NCOA1_ENST00000395856.3_Nonsense_Mutation_p.S590*|NCOA1_ENST00000348332.3_Nonsense_Mutation_p.S590*|NCOA1_ENST00000405141.1_Nonsense_Mutation_p.S590*|NCOA1_ENST00000407230.1_Nonsense_Mutation_p.S439*|NCOA1_ENST00000288599.5_Nonsense_Mutation_p.S590*|NCOA1_ENST00000538539.1_Nonsense_Mutation_p.S590*			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	590	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATTGCCTCAATTTTAAAT	0.408			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NaN		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(1768-1770)TCA>TGA		nuclear receptor coactivator 1 isoform 1							47.0	48.0	47.0					2																	24930108		2203	4300	6503	SO:0001587	stop_gained	8648							g.chr2:24930108C>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1769C>G	2.37:g.24930108C>G	ENSP00000385216:p.Ser590*					NCOA1_uc010eye.2_Nonsense_Mutation_p.S590*|NCOA1_uc002rfi.2_Nonsense_Mutation_p.S439*|NCOA1_uc002rfj.2_Nonsense_Mutation_p.S590*|NCOA1_uc002rfl.2_Nonsense_Mutation_p.S590*	p.S590*	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	2027	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		590			Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Nonsense_Mutation	SNP	ENST00000406961.1	37	c.1769C>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	40	8.277490	0.98740	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	.	.	.	5.95	5.95	0.96441	.	0.149436	0.48767	D	0.000178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.1662	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	X	590;590;439;590;590;590;590	.	ENSP00000288599:S590X	S	+	2	0	NCOA1	24783612	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.772000	0.62324	2.824000	0.97209	0.655000	0.94253	TCA		0.408	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223		7	46	0	0	0	0.00308	0	7	46		
FAHD2B	151313	broad.mit.edu	37	2	97757424	97757424	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:97757424C>T	ENST00000414820.1	-	3	290	c.20G>A	c.(19-21)aGa>aAa	p.R7K	FAHD2B_ENST00000272610.3_Missense_Mutation_p.R7K|FAHD2B_ENST00000440566.2_Missense_Mutation_p.R7K|FAHD2B_ENST00000468548.1_Intron			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	7							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GAGTAATCTTCTTCTACCAGA	0.547																																						uc002sxm.2		NaN																	0					0						c.(19-21)AGA>AAA		fumarylacetoacetate hydrolase domain containing							67.0	68.0	67.0					2																	97757424		2203	4300	6503	SO:0001583	missense	151313						hydrolase activity|metal ion binding	g.chr2:97757424C>T		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.20G>A	2.37:g.97757424C>T	ENSP00000410470:p.Arg7Lys						p.R7K	NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN			2	171	-			7					D3DXH7|Q8NDK1	Missense_Mutation	SNP	ENST00000414820.1	37	c.20G>A	CCDS2030.1	.	.	.	.	.	.	.	.	.	.	c	6.491	0.458737	0.12342	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	T;T;T	0.29655	1.56;1.56;1.56	0.596	0.596	0.17496	.	0.299246	0.27219	N	0.020375	T	0.26011	0.0634	M	0.62723	1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19321	-1.0309	10	0.42905	T	0.14	.	6.9897	0.24748	0.0:0.9999:0.0:1.0E-4	.	7	Q6P2I3	FAH2B_HUMAN	K	7	ENSP00000410470:R7K;ENSP00000272610:R7K;ENSP00000444599:R7K	ENSP00000272610:R7K	R	-	2	0	FAHD2B	97121151	0.362000	0.24980	0.285000	0.24819	0.034000	0.12701	0.350000	0.20079	0.569000	0.29329	0.281000	0.19383	AGA		0.547	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1		NM_199336		20	50	0	0	0	0.007413	0	20	50		
MYO7B	4648	broad.mit.edu	37	2	128393891	128393891	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:128393891G>C	ENST00000409816.2	+	43	6069	c.6037G>C	c.(6037-6039)Gag>Cag	p.E2013Q	MYO7B_ENST00000409090.1_Missense_Mutation_p.E866Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.E2013Q|LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000389524.4_Missense_Mutation_p.E2014Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2013	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGCCTTCTTCGAGGTGAAGGT	0.612																																						uc002top.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(6037-6039)GAG>CAG		myosin VIIB							53.0	57.0	56.0					2																	128393891		2047	4190	6237	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128393891G>C		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6037G>C	2.37:g.128393891G>C	ENSP00000386461:p.Glu2013Gln					MYO7B_uc002tos.1_Missense_Mutation_p.E123Q|MYO7B_uc002tot.2_Missense_Mutation_p.E123Q	p.E2013Q	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	44	6090	+	Colorectal(110;0.1)		2013			FERM 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.6037G>C	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.012667	0.93346	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.66	5.66	0.87406	FERM domain (1);Pleckstrin homology-type (1);	0.056353	0.64402	D	0.000001	D	0.88190	0.6370	M	0.85462	2.755	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	D	0.88515	0.3092	10	0.54805	T	0.06	.	19.7481	0.96258	0.0:0.0:1.0:0.0	.	928;2013	B0I1T4;Q6PIF6	.;MYO7B_HUMAN	Q	2014;2013;2013;866	ENSP00000374175:E2014Q;ENSP00000415090:E2013Q;ENSP00000386461:E2013Q;ENSP00000386850:E866Q	ENSP00000374175:E2014Q	E	+	1	0	MYO7B	128110361	1.000000	0.71417	0.995000	0.50966	0.776000	0.43924	7.567000	0.82357	2.668000	0.90789	0.655000	0.94253	GAG		0.612	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3		XM_291001		11	26	0	0	0	0.008291	0	11	26		
LRP1B	53353	broad.mit.edu	37	2	141283479	141283479	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:141283479G>T	ENST00000389484.3	-	49	8931	c.7960C>A	c.(7960-7962)Ctg>Atg	p.L2654M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2654	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.			LP -> CQ (in Ref. 2; AAL38108). {ECO:0000305}.	protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGTTGGCAGAACACACAGT	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7960-7962)CTG>ATG		low density lipoprotein-related protein 1B							121.0	114.0	117.0					2																	141283479		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141283479G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7960C>A	2.37:g.141283479G>T	ENSP00000374135:p.Leu2654Met	TSP Lung(27;0.18)					p.L2654M	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	49	8932	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2654	LP -> CQ (in Ref. 2; AAL38108).		Extracellular (Potential).|LDL-receptor class A 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7960C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836104	0.50951	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95412	-3.7	5.04	3.24	0.37175	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.088719	0.47455	D	0.000225	D	0.95560	0.8557	L	0.50993	1.605	0.28025	N	0.934369	D	0.65815	0.995	D	0.64776	0.929	D	0.90124	0.4201	10	0.41790	T	0.15	.	9.3408	0.38079	0.2266:0.0:0.7734:0.0	.	2654	Q9NZR2	LRP1B_HUMAN	M	2654;2592	ENSP00000374135:L2654M	ENSP00000374135:L2654M	L	-	1	2	LRP1B	140999949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.810000	0.55613	1.492000	0.48499	0.650000	0.86243	CTG		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		12	37	1	0	3.07112e-06	0.010729	3.19203e-06	12	37		
TTN	7273	broad.mit.edu	37	2	179415741	179415741	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:179415741C>A	ENST00000591111.1	-	286	86818	c.86594G>T	c.(86593-86595)aGc>aTc	p.S28865I	TTN_ENST00000342992.6_Missense_Mutation_p.S27938I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S21633I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21566I|TTN_ENST00000460472.2_Missense_Mutation_p.S21441I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S30506I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28865	Fibronectin type-III 110. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGGGCGGGCTTATAGTTCC	0.388																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(83812-83814)AGC>ATC		titin isoform N2-A							72.0	69.0	70.0					2																	179415741		1857	4110	5967	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179415741C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86594G>T	2.37:g.179415741C>A	ENSP00000465570:p.Ser28865Ile					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21633I|TTN_uc010zfi.1_Missense_Mutation_p.S21566I|TTN_uc010zfj.1_Missense_Mutation_p.S21441I	p.S27938I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		285	84037	-			28865					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.83813G>T		.	.	.	.	.	.	.	.	.	.	C	28.6	4.935272	0.92458	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.9	5.9	0.94986	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86289	0.5897	H	0.98027	4.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90591	0.4537	9	0.87932	D	0	.	20.2787	0.98501	0.0:1.0:0.0:0.0	.	21441;21566;21633;28865	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	27938;21441;21633;21566;21438	ENSP00000343764:S27938I;ENSP00000434586:S21441I;ENSP00000340554:S21633I;ENSP00000352154:S21566I	ENSP00000340554:S21633I	S	-	2	0	TTN	179123987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	AGC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		5	20	1	0	0.000602214	0.014758	0.00061384	5	20		
TTN	7273	broad.mit.edu	37	2	179464145	179464145	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:179464145A>T	ENST00000591111.1	-	240	51676	c.51452T>A	c.(51451-51453)aTa>aAa	p.I17151K	TTN_ENST00000342992.6_Missense_Mutation_p.I16224K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I9919K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I9852K|TTN_ENST00000460472.2_Missense_Mutation_p.I9727K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I18792K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17151	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAATTTTATGGGTCCCAC	0.363																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(48670-48672)ATA>AAA		titin isoform N2-A							56.0	54.0	54.0					2																	179464145		1833	4082	5915	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464145A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51452T>A	2.37:g.179464145A>T	ENSP00000465570:p.Ile17151Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I9919K|TTN_uc010zfi.1_Missense_Mutation_p.I9852K|TTN_uc010zfj.1_Missense_Mutation_p.I9727K	p.I16224K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		239	48895	-			17151					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.48671T>A		.	.	.	.	.	.	.	.	.	.	A	14.24	2.475456	0.43942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.58	5.58	0.84498	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78470	0.4288	M	0.84511	2.7	0.80722	D	1	D;D;D;D	0.76494	0.994;0.994;0.994;0.999	D;D;D;D	0.72338	0.94;0.94;0.94;0.977	T	0.82500	-0.0426	9	0.87932	D	0	.	15.7483	0.77965	1.0:0.0:0.0:0.0	.	9727;9852;9919;17151	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	16224;9727;9919;9852;9725	ENSP00000343764:I16224K;ENSP00000434586:I9727K;ENSP00000340554:I9919K;ENSP00000352154:I9852K	ENSP00000340554:I9919K	I	-	2	0	TTN	179172390	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.326000	0.96389	2.129000	0.65627	0.528000	0.53228	ATA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		13	35	0	0	0	0.013537	0	13	35		
ZSWIM2	151112	broad.mit.edu	37	2	187713754	187713754	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:187713754C>G	ENST00000295131.2	-	1	143	c.104G>C	c.(103-105)cGa>cCa	p.R35P		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	35					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GCCCATCTCTCGTAGGAGGTA	0.597																																						uc002upu.1		NaN																	0				ovary(2)|skin(1)	3						c.(103-105)CGA>CCA		zinc finger, SWIM domain containing 2							58.0	54.0	56.0					2																	187713754		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187713754C>G	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.104G>C	2.37:g.187713754C>G	ENSP00000295131:p.Arg35Pro						p.R35P	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		1	144	-			35					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.104G>C	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790800	0.70452	.	.	ENSG00000163012	ENST00000295131	T	0.24908	1.83	4.91	4.91	0.64330	.	0.000000	0.41294	D	0.000912	T	0.38506	0.1043	L	0.34521	1.04	0.26695	N	0.971279	D	0.76494	0.999	D	0.70227	0.968	T	0.12502	-1.0545	10	0.72032	D	0.01	-4.3172	13.7766	0.63057	0.0:1.0:0.0:0.0	.	35	Q8NEG5	ZSWM2_HUMAN	P	35	ENSP00000295131:R35P	ENSP00000295131:R35P	R	-	2	0	ZSWIM2	187421999	0.096000	0.21769	0.254000	0.24359	0.955000	0.61496	1.702000	0.37836	2.701000	0.92244	0.650000	0.86243	CGA		0.597	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1		NM_182521		10	25	0	0	0	0.006214	0	10	25		
ICA1L	130026	broad.mit.edu	37	2	203653802	203653802	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:203653802C>G	ENST00000392237.2	-	12	1151	c.994G>C	c.(994-996)Gat>Cat	p.D332H	ICA1L_ENST00000358299.2_Missense_Mutation_p.D332H	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	332										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGGTAGATCTTTTGCAACT	0.323																																						uc002uzh.1		NaN																	0					0						c.(994-996)GAT>CAT		islet cell autoantigen 1,69kDa-like isoform 1							55.0	61.0	59.0					2																	203653802		2203	4300	6503	SO:0001583	missense	130026							g.chr2:203653802C>G	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.994G>C	2.37:g.203653802C>G	ENSP00000376070:p.Asp332His					ICA1L_uc002uzi.1_Missense_Mutation_p.D332H	p.D332H	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN			12	1158	-			332					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	c.994G>C	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980282	0.34942	.	.	ENSG00000163596	ENST00000392237;ENST00000358299;ENST00000420558	.	.	.	5.78	5.78	0.91487	Islet cell autoantigen Ica1, C-terminal (1);	0.391089	0.26951	N	0.021672	T	0.76350	0.3975	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.77464	-0.2578	9	0.59425	D	0.04	.	15.5028	0.75713	0.0:1.0:0.0:0.0	.	332	Q8NDH6	ICA1L_HUMAN	H	332;332;82	.	ENSP00000351047:D332H	D	-	1	0	ICA1L	203362047	1.000000	0.71417	0.420000	0.26596	0.472000	0.32918	2.070000	0.41491	2.733000	0.93635	0.655000	0.94253	GAT		0.323	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1		NM_138468		14	39	0	0	0	0.003163	0	14	39		
SGPP2	130367	broad.mit.edu	37	2	223423425	223423425	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:223423425C>G	ENST00000321276.7	+	5	1094	c.1008C>G	c.(1006-1008)ctC>ctG	p.L336L		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	336					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGTTGATCCTCTTGGTTCGTC	0.473																																						uc010zlo.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1006-1008)CTC>CTG		sphingosine-1-phosphate phosphotase 2							125.0	115.0	119.0					2																	223423425		2203	4300	6503	SO:0001819	synonymous_variant	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223423425C>G	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.1008C>G	2.37:g.223423425C>G						SGPP2_uc010zlp.1_Silent_p.L208L	p.L336L	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	5	1008	+		Renal(207;0.0376)	336			Helical; (Potential).		A3KPB4|Q8N8Q6	Silent	SNP	ENST00000321276.7	37	c.1008C>G	CCDS2453.1																																																																																				0.473	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2				14	52	0	0	0	0.020292	0	14	52		
SCG2	7857	broad.mit.edu	37	2	224463700	224463700	+	Missense_Mutation	SNP	C	C	G	rs137998511		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:224463700C>G	ENST00000305409.2	-	2	533	c.301G>C	c.(301-303)Gag>Cag	p.E101Q		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAATCCCTCTCGGGCAAGTGG	0.453																																						uc002vnm.2		NaN																	0				ovary(1)	1						c.(301-303)GAG>CAG		secretogranin II precursor							111.0	114.0	113.0					2																	224463700		2203	4300	6503	SO:0001583	missense	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463700C>G	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.301G>C	2.37:g.224463700C>G	ENSP00000304133:p.Glu101Gln						p.E101Q	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	434	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	101					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	c.301G>C	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435771	0.43224	.	.	ENSG00000171951	ENST00000305409;ENST00000450330;ENST00000421386;ENST00000433889	T;T;T	0.01838	4.61;4.61;4.61	5.5	5.5	0.81552	.	0.226073	0.43747	D	0.000526	T	0.09379	0.0231	L	0.59436	1.845	0.42943	D	0.994352	P	0.51147	0.942	P	0.57960	0.83	T	0.04635	-1.0937	10	0.40728	T	0.16	.	19.775	0.96388	0.0:1.0:0.0:0.0	.	101	P13521	SCG2_HUMAN	Q	101	ENSP00000304133:E101Q;ENSP00000394702:E101Q;ENSP00000415468:E101Q	ENSP00000304133:E101Q	E	-	1	0	SCG2	224171944	0.962000	0.33011	0.998000	0.56505	0.110000	0.19582	4.156000	0.58138	2.741000	0.93983	0.585000	0.79938	GAG		0.453	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2		NM_003469		26	51	0	0	0	0.021523	0	26	51		
UBOX5	22888	broad.mit.edu	37	20	3102035	3102035	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:3102035G>A	ENST00000217173.2	-	3	1721	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.S417L	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						ATTACCTGTCGAGCAGTCCAT	0.527																																						uc002whw.2		NaN																	0				ovary(1)|skin(1)	2						c.(1249-1251)TCG>TTG		U-box domain containing 5 isoform a							108.0	93.0	98.0					20																	3102035		2203	4300	6503	SO:0001583	missense	22888					nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr20:3102035G>A	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1250C>T	20.37:g.3102035G>A	ENSP00000217173:p.Ser417Leu					uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.S417L|UBOX5_uc002why.1_Missense_Mutation_p.S417L	p.S417L	NM_014948	NP_055763	O94941	RNF37_HUMAN			3	1420	-			417						Missense_Mutation	SNP	ENST00000217173.2	37	c.1250C>T	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226153	0.58668	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.34472	1.37;1.36	5.29	5.29	0.74685	.	0.614861	0.16011	U	0.233798	T	0.52980	0.1768	L	0.34521	1.04	0.45762	D	0.99865	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.946;0.996	T	0.55431	-0.8142	10	0.87932	D	0	-7.4386	18.9468	0.92625	0.0:0.0:1.0:0.0	.	417;417;417	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	L	417	ENSP00000217173:S417L;ENSP00000311726:S417L	ENSP00000217173:S417L	S	-	2	0	UBOX5	3050035	1.000000	0.71417	0.996000	0.52242	0.309000	0.27889	6.509000	0.73725	2.455000	0.83008	0.655000	0.94253	TCG		0.527	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2		NM_014948		6	43	0	0	0	0.001168	0	6	43		
POFUT1	23509	broad.mit.edu	37	20	30804435	30804435	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:30804435C>T	ENST00000375749.3	+	4	515	c.453C>T	c.(451-453)ttC>ttT	p.F151F	POFUT1_ENST00000375730.3_Silent_p.F151F|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	151					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)	p.F151F(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGGCCCATTCTGGGATCAGT	0.507																																						uc002wxp.2		NaN																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(451-453)TTC>TTT		protein O-fucosyltransferase 1 isoform 1							117.0	113.0	114.0					20																	30804435		2203	4300	6503	SO:0001819	synonymous_variant	23509				fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	g.chr20:30804435C>T	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.453C>T	20.37:g.30804435C>T						POFUT1_uc002wxo.2_Silent_p.F151F|POFUT1_uc010ztt.1_Silent_p.F43F|POFUT1_uc010ztu.1_Intron	p.F151F	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		4	502	+			151					A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Silent	SNP	ENST00000375749.3	37	c.453C>T	CCDS13198.1																																																																																				0.507	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1		NM_015352		18	71	0	0	0	0.010504	0	18	71		
EMILIN3	90187	broad.mit.edu	37	20	39990047	39990047	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:39990047C>A	ENST00000332312.3	-	4	2354	c.2162G>T	c.(2161-2163)aGa>aTa	p.R721I		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.R721K(1)|p.R721I(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)				CAGGCCCTCTCTGGGCCTCAG	0.672																																						uc002xjy.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2161-2163)AGA>ATA		elastin microfibril interfacer 3							35.0	28.0	31.0					20																	39990047		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39990047C>A	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.2162G>T	20.37:g.39990047C>A	ENSP00000332806:p.Arg721Ile						p.R721I	NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN			4	2386	-		Myeloproliferative disorder(115;0.00425)	721					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.2162G>T	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	9.435	1.086626	0.20390	.	.	ENSG00000183798	ENST00000332312	T	0.14022	2.54	5.28	-0.442	0.12253	.	0.660717	0.15939	N	0.237266	T	0.07728	0.0194	L	0.36672	1.1	0.19300	N	0.999979	B	0.18610	0.029	B	0.14023	0.01	T	0.31052	-0.9957	9	.	.	.	-6.8163	1.9571	0.03378	0.1208:0.2557:0.3681:0.2555	.	721	Q9NT22	EMIL3_HUMAN	I	721	ENSP00000332806:R721I	.	R	-	2	0	EMILIN3	39423461	0.000000	0.05858	0.459000	0.27081	0.733000	0.41908	0.319000	0.19522	0.217000	0.20800	0.561000	0.74099	AGA		0.672	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2		XM_029741		14	15	1	0	4.3838e-07	0.016723	4.61085e-07	14	15		
PKIG	11142	broad.mit.edu	37	20	43246949	43246949	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:43246949C>G	ENST00000372889.1	+	6	760	c.175C>G	c.(175-177)Cca>Gca	p.P59A	PKIG_ENST00000372891.3_Missense_Mutation_p.P59A|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372892.3_Missense_Mutation_p.P59A|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372887.1_Intron|ADA_ENST00000464097.1_5'Flank|PKIG_ENST00000349959.3_Missense_Mutation_p.P59A|PKIG_ENST00000372886.1_Missense_Mutation_p.P59A|PKIG_ENST00000372894.3_Missense_Mutation_p.P59A	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	59					negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165)		cAMP-dependent protein kinase inhibitor activity (GO:0004862)			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			GGGAAGCGCCCCAGACAAGGA	0.547																																						uc002xmg.2		NaN																	0					0						c.(175-177)CCA>GCA		cAMP-dependent protein kinase inhibitor gamma							143.0	148.0	146.0					20																	43246949		2203	4300	6503	SO:0001583	missense	11142						cAMP-dependent protein kinase inhibitor activity|protein binding	g.chr20:43246949C>G	AB019517	CCDS13334.1	20q13.12-q13.13	2008-07-03			ENSG00000168734	ENSG00000168734			9019	protein-coding gene	gene with protein product		604932				10880337	Standard	NM_181805		Approved		uc002xmi.3	Q9Y2B9	OTTHUMG00000033065	ENST00000372889.1:c.175C>G	20.37:g.43246949C>G	ENSP00000361980:p.Pro59Ala					PKIG_uc002xmh.2_Missense_Mutation_p.P59A|PKIG_uc002xmi.2_Missense_Mutation_p.P59A	p.P59A	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)		6	704	+		Myeloproliferative disorder(115;0.0122)	59						Missense_Mutation	SNP	ENST00000372889.1	37	c.175C>G	CCDS13334.1	.	.	.	.	.	.	.	.	.	.	C	0.362	-0.939075	0.02322	.	.	ENSG00000168734	ENST00000372894;ENST00000372892;ENST00000372891;ENST00000372889;ENST00000372886;ENST00000349959	.	.	.	5.45	-7.95	0.01148	.	0.775846	0.11755	N	0.532641	T	0.20251	0.0487	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29027	-1.0025	8	0.18710	T	0.47	2.4314	10.9574	0.47366	0.0:0.1577:0.6182:0.2241	.	59	Q9Y2B9	IPKG_HUMAN	A	59	.	ENSP00000338067:P59A	P	+	1	0	PKIG	42680363	0.000000	0.05858	0.005000	0.12908	0.312000	0.27988	-1.259000	0.02861	-0.966000	0.03587	-0.300000	0.09419	CCA		0.547	PKIG-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127804.1				29	152	0	0	0	0.007291	0	29	152		
SNX21	90203	broad.mit.edu	37	20	44469809	44469809	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:44469809G>C	ENST00000491381.1	+	4	1047	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	SNX21_ENST00000372542.1_Missense_Mutation_p.E318Q|SNX21_ENST00000342644.5_Intron|SNX21_ENST00000344780.4_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	327					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				ACCCTTTCTGGAGGCCCATGT	0.657																																						uc002xpv.1		NaN																	0				breast(1)|pancreas(1)	2						c.(979-981)GAG>CAG		sorting nexin 21 isoform a							40.0	43.0	42.0					20																	44469809		2203	4300	6503	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469809G>C	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.979G>C	20.37:g.44469809G>C	ENSP00000418593:p.Glu327Gln					SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.E138Q|SNX21_uc002xpx.2_Missense_Mutation_p.E317Q|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.E138Q|SNX21_uc002xpz.1_Missense_Mutation_p.E138Q	p.E327Q	NM_033421	NP_219489	Q969T3	SNX21_HUMAN			4	1068	+		Myeloproliferative disorder(115;0.0122)	327					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.979G>C	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288833	0.23478	.	.	ENSG00000124104	ENST00000491381;ENST00000372542	T;T	0.64618	-0.11;-0.11	4.34	4.34	0.51931	.	0.256944	0.40908	D	0.000995	T	0.42314	0.1197	L	0.28115	0.83	0.80722	D	1	B;B	0.22800	0.005;0.075	B;B	0.14023	0.005;0.01	T	0.30794	-0.9966	9	.	.	.	-22.6364	6.3101	0.21161	0.101:0.2066:0.6924:0.0	.	318;327	Q5JZH3;Q969T3	.;SNX21_HUMAN	Q	327;318	ENSP00000418593:E327Q;ENSP00000361620:E318Q	.	E	+	1	0	SNX21	43903216	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.659000	0.46741	2.253000	0.74438	0.462000	0.41574	GAG		0.657	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1		NM_033421		32	46	0	0	0	0.010818	0	32	46		
SPATA2	9825	broad.mit.edu	37	20	48522407	48522407	+	Nonsense_Mutation	SNP	G	G	A	rs145093250		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:48522407G>A	ENST00000422556.1	-	3	1661	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	SPATA2_ENST00000543716.1_Nonsense_Mutation_p.Q301*|SPATA2_ENST00000289431.5_Nonsense_Mutation_p.Q438*	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	438					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCGAGGCCCTGAGTCTGGCCT	0.662																																						uc010gie.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1312-1314)CAG>TAG		spermatogenesis associated 2							70.0	63.0	65.0					20																	48522407		2203	4300	6503	SO:0001587	stop_gained	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522407G>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.1312C>T	20.37:g.48522407G>A	ENSP00000416799:p.Gln438*					SPATA2_uc002xuw.2_Nonsense_Mutation_p.Q438*|SPATA2_uc010zyn.1_Nonsense_Mutation_p.Q301*	p.Q438*	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1662	-	Hepatocellular(150;0.133)		438					E1P626|O94857	Nonsense_Mutation	SNP	ENST00000422556.1	37	c.1312C>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	G	38	7.153500	0.98099	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	.	.	.	4.82	4.82	0.62117	.	0.286265	0.29280	N	0.012614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-0.3044	11.5502	0.50716	0.0814:0.0:0.9185:0.0	.	.	.	.	X	438;438;301	.	ENSP00000289431:Q438X	Q	-	1	0	SPATA2	47955814	1.000000	0.71417	0.991000	0.47740	0.819000	0.46315	5.346000	0.65992	2.491000	0.84063	0.455000	0.32223	CAG		0.662	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1		NM_006038		14	52	0	0	0	0.016723	0	14	52		
DIDO1	11083	broad.mit.edu	37	20	61511415	61511415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61511415G>A	ENST00000266070.4	-	16	6218	c.5893C>T	c.(5893-5895)Cag>Tag	p.Q1965*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1965*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1965	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGAACTGCTGAGGCTGAATG	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(5893-5895)CAG>TAG		death inducer-obliterator 1 isoform c							129.0	151.0	144.0					20																	61511415		2203	4298	6501	SO:0001587	stop_gained	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511415G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5893C>T	20.37:g.61511415G>A	ENSP00000266070:p.Gln1965*					DIDO1_uc002yds.1_Nonsense_Mutation_p.Q1965*	p.Q1965*	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	6157	-	Breast(26;5.68e-08)		1965			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	c.5893C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	45	11.368726	0.99552	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	4.91	4.91	0.64330	.	0.000000	0.40818	N	0.001012	.	.	.	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-19.4351	14.8908	0.70606	0.0:0.144:0.856:0.0	.	.	.	.	X	1965	.	ENSP00000266070:Q1965X	Q	-	1	0	DIDO1	60981860	1.000000	0.71417	0.537000	0.28052	0.200000	0.23975	4.513000	0.60476	2.414000	0.81942	0.561000	0.74099	CAG		0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		46	198	0	0	0	0.01441	0	46	198		
DIDO1	11083	broad.mit.edu	37	20	61511882	61511882	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61511882G>T	ENST00000266070.4	-	16	5751	c.5426C>A	c.(5425-5427)tCc>tAc	p.S1809Y	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1809Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1809	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGAGAATAAGGAAGGGATGGG	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(5425-5427)TCC>TAC		death inducer-obliterator 1 isoform c							76.0	90.0	85.0					20																	61511882		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511882G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5426C>A	20.37:g.61511882G>T	ENSP00000266070:p.Ser1809Tyr					DIDO1_uc002yds.1_Missense_Mutation_p.S1809Y	p.S1809Y	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5690	-	Breast(26;5.68e-08)		1809			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5426C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990452	0.74589	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.11821	2.74;2.74	5.03	5.03	0.67393	.	0.000000	0.40554	N	0.001065	T	0.34337	0.0894	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.04607	-1.0939	10	0.66056	D	0.02	-34.949	15.5182	0.75842	0.0:0.0:1.0:0.0	.	1809	Q9BTC0	DIDO1_HUMAN	Y	1809	ENSP00000266070:S1809Y;ENSP00000378752:S1809Y	ENSP00000266070:S1809Y	S	-	2	0	DIDO1	60982327	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	4.220000	0.58567	2.306000	0.77630	0.561000	0.74099	TCC		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		20	97	1	0	1.22574e-08	0.014323	1.31543e-08	20	97		
DIDO1	11083	broad.mit.edu	37	20	61512446	61512446	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61512446G>A	ENST00000266070.4	-	16	5187	c.4862C>T	c.(4861-4863)tCg>tTg	p.S1621L	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1621L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1621					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTTCGCCCGAAGCCCAGGG	0.711																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(4861-4863)TCG>TTG		death inducer-obliterator 1 isoform c							8.0	10.0	9.0					20																	61512446		1647	3567	5214	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512446G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4862C>T	20.37:g.61512446G>A	ENSP00000266070:p.Ser1621Leu					DIDO1_uc002yds.1_Missense_Mutation_p.S1621L	p.S1621L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5126	-	Breast(26;5.68e-08)		1621					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4862C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005103	0.35415	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	5.31	2.24	0.28232	.	0.574817	0.14473	N	0.317456	T	0.04815	0.0130	N	0.19112	0.55	0.20074	N	0.999934	B	0.30211	0.273	B	0.17722	0.019	T	0.39418	-0.9615	10	0.39692	T	0.17	0.0103	7.0306	0.24965	0.1523:0.1413:0.7063:0.0	.	1621	Q9BTC0	DIDO1_HUMAN	L	1621	ENSP00000266070:S1621L;ENSP00000378752:S1621L	ENSP00000266070:S1621L	S	-	2	0	DIDO1	60982891	0.906000	0.30813	0.000000	0.03702	0.002000	0.02628	3.802000	0.55553	0.210000	0.20664	0.655000	0.94253	TCG		0.711	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		7	8	0	0	0	0.001984	0	7	8		
DIDO1	11083	broad.mit.edu	37	20	61512978	61512978	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr20:61512978G>A	ENST00000266070.4	-	16	4655	c.4330C>T	c.(4330-4332)Ctg>Ttg	p.L1444L	DIDO1_ENST00000395343.1_Silent_p.L1444L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1444					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTTGGGCAGGTCATCAACA	0.617																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NaN																	0				ovary(3)|skin(3)	6						c.(4330-4332)CTG>TTG		death inducer-obliterator 1 isoform c							94.0	103.0	100.0					20																	61512978		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512978G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4330C>T	20.37:g.61512978G>A						DIDO1_uc002yds.1_Silent_p.L1444L	p.L1444L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4594	-	Breast(26;5.68e-08)		1444					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.4330C>T	CCDS33506.1																																																																																				0.617	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		NM_080796		30	109	0	0	0	0.009535	0	30	109		
DEPDC5	9681	broad.mit.edu	37	22	32174116	32174116	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr22:32174116G>A	ENST00000382112.3	+	7	515	c.445G>A	c.(445-447)Gag>Aag	p.E149K	DEPDC5_ENST00000400242.3_Missense_Mutation_p.E149K|DEPDC5_ENST00000536766.1_Missense_Mutation_p.E121K|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E149K|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E149K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E149K|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E149K|DEPDC5_ENST00000400246.1_Missense_Mutation_p.E149K|DEPDC5_ENST00000400248.2_Missense_Mutation_p.E149K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E149K	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	149					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGTTAAGAATGAGAAGGTCAT	0.383																																						uc003als.2		NaN																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(445-447)GAG>AAG		DEP domain containing 5 isoform 1							220.0	211.0	214.0					22																	32174116		1930	4142	6072	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32174116G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.445G>A	22.37:g.32174116G>A	ENSP00000371546:p.Glu149Lys					DEPDC5_uc011als.1_Missense_Mutation_p.E149K|DEPDC5_uc011alu.1_Missense_Mutation_p.E149K|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E149K|DEPDC5_uc003alr.1_Missense_Mutation_p.E149K|DEPDC5_uc011alt.1_Missense_Mutation_p.E121K	p.E149K	NM_014662	NP_055477	O75140	DEPD5_HUMAN			8	587	+			149					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.445G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171699	0.94807	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.42900	1.53;1.51;0.96;1.92;1.93;1.92;1.53;1.93;1.92;1.93	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	L	0.28115	0.83	0.80722	D	1	D;D;P;B;D;B	0.76494	0.999;0.998;0.562;0.256;0.999;0.178	D;D;P;B;D;B	0.83275	0.996;0.994;0.681;0.376;0.996;0.155	T	0.35475	-0.9787	10	0.17369	T	0.5	.	16.8796	0.86060	0.0:0.0:1.0:0.0	.	149;121;149;149;149;149	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	K	149;121;149;149;149;149;149;149;149;149;149	ENSP00000440210:E149K;ENSP00000441358:E121K;ENSP00000383101:E149K;ENSP00000266091:E149K;ENSP00000383108:E149K;ENSP00000383105:E149K;ENSP00000371539:E149K;ENSP00000371546:E149K;ENSP00000371545:E149K;ENSP00000383107:E149K	ENSP00000266091:E149K	E	+	1	0	DEPDC5	30504116	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.763000	0.85283	2.396000	0.81511	0.561000	0.74099	GAG		0.383	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662		30	65	0	0	0	0.010818	0	30	65		
MGAT3	4248	broad.mit.edu	37	22	39883792	39883792	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr22:39883792G>A	ENST00000341184.6	+	2	655	c.440G>A	c.(439-441)cGg>cAg	p.R147Q		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	147					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TCGGCCCGGCGGCCACCCCGG	0.766																																						uc003axv.3		NaN																	0					0						c.(439-441)CGG>CAG		mannosyl (beta-1,4-)-glycoprotein							2.0	4.0	3.0					22																	39883792		1526	3279	4805	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883792G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.440G>A	22.37:g.39883792G>A	ENSP00000345270:p.Arg147Gln					MGAT3_uc010gxy.2_Missense_Mutation_p.R147Q	p.R147Q	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	679	+	Melanoma(58;0.04)		147			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.440G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838814	0.16891	.	.	ENSG00000128268	ENST00000341184;ENST00000429402	.	.	.	5.3	3.22	0.36961	.	0.339563	0.26421	N	0.024479	T	0.26557	0.0649	N	0.19112	0.55	0.28648	N	0.906798	B	0.10296	0.003	B	0.04013	0.001	T	0.14337	-1.0476	9	0.41790	T	0.15	.	9.7595	0.40524	0.1596:0.0:0.8404:0.0	.	147	Q09327	MGAT3_HUMAN	Q	147	.	ENSP00000345270:R147Q	R	+	2	0	MGAT3	38213738	0.914000	0.31030	0.276000	0.24689	0.169000	0.22640	1.415000	0.34748	0.627000	0.30340	0.467000	0.42956	CGG		0.766	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2		NM_002409		3	0	0	0	0	0.004672	0	3	0		
SRGAP3	9901	broad.mit.edu	37	3	9146379	9146379	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:9146379G>A	ENST00000383836.3	-	3	835	c.408C>T	c.(406-408)atC>atT	p.I136I	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.I136I	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	136	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGAAGAGTCTGATGACATCCT	0.552			T	RAF1	pilocytic astrocytoma																																	uc003brf.1		NaN		Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(406-408)ATC>ATT		SLIT-ROBO Rho GTPase activating protein 3							141.0	138.0	139.0					3																	9146379		2203	4300	6503	SO:0001819	synonymous_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9146379G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.408C>T	3.37:g.9146379G>A						SRGAP3_uc003brg.1_Silent_p.I136I|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brk.2_Silent_p.I136I	p.I136I	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	3	1084	-			136					Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	c.408C>T	CCDS2572.1																																																																																				0.552	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3				28	65	0	0	0	0.00632	0	28	65		
GALNT15	117248	broad.mit.edu	37	3	16254202	16254202	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:16254202G>A	ENST00000339732.5	+	6	1827	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	GALNT15_ENST00000437509.1_Missense_Mutation_p.E442K	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	442					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCGCATTGCTGAGACCTGGCT	0.547																																						uc003car.3		NaN																	0				breast(1)	1						c.(1324-1326)GAG>AAG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							105.0	102.0	103.0					3																	16254202		2203	4300	6503	SO:0001583	missense	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16254202G>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1324G>A	3.37:g.16254202G>A	ENSP00000344260:p.Glu442Lys					GALNTL2_uc003caq.3_Missense_Mutation_p.E175K	p.E442K	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			6	1799	+			442			Lumenal (Potential).		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1324G>A	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357838	0.95854	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.70631	-0.5;-0.5	5.38	5.38	0.77491	.	0.055265	0.64402	D	0.000001	D	0.86879	0.6039	M	0.87971	2.92	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.88926	0.3369	10	0.87932	D	0	.	19.1508	0.93487	0.0:0.0:1.0:0.0	.	442	Q8N3T1	GLTL2_HUMAN	K	442	ENSP00000344260:E442K;ENSP00000395873:E442K	ENSP00000344260:E442K	E	+	1	0	GALNTL2	16229206	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.756000	0.91651	2.524000	0.85096	0.561000	0.74099	GAG		0.547	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2		NM_054110		13	52	0	0	0	0.003163	0	13	52		
EPM2AIP1	9852	broad.mit.edu	37	3	37033451	37033451	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:37033451G>C	ENST00000322716.5	-	1	1344	c.1118C>G	c.(1117-1119)tCa>tGa	p.S373*	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000231790.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	373					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TTGTTTGTCTGAGAAGTGGAC	0.398																																						uc003cgk.2		NaN																	0					0						c.(1117-1119)TCA>TGA		EPM2A interacting protein 1							189.0	191.0	190.0					3																	37033451		1895	4123	6018	SO:0001587	stop_gained	9852					endoplasmic reticulum		g.chr3:37033451G>C	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1118C>G	3.37:g.37033451G>C	ENSP00000406027:p.Ser373*					MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.S373*	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	1345	-			373					O94866|Q9H3L3	Nonsense_Mutation	SNP	ENST00000322716.5	37	c.1118C>G	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	G	37	6.042710	0.97231	.	.	ENSG00000178567	ENST00000322716	.	.	.	4.64	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-19.6256	5.8096	0.18460	0.0989:0.0:0.709:0.1921	.	.	.	.	X	373	.	ENSP00000406027:S373X	S	-	2	0	EPM2AIP1	37008455	0.026000	0.19158	0.999000	0.59377	0.940000	0.58332	0.483000	0.22292	2.395000	0.81488	0.655000	0.94253	TCA		0.398	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1		NM_014805		54	124	0	0	0	0.01441	0	54	124		
NKTR	4820	broad.mit.edu	37	3	42680225	42680225	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:42680225G>A	ENST00000232978.8	+	13	3217	c.3029G>A	c.(3028-3030)cGa>cAa	p.R1010Q	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1010	Arg/Lys-rich (basic).				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GCTCCAAAACGAAAGCAAGCA	0.383																																						uc003clo.2		NaN																	0				ovary(2)|skin(1)	3						c.(3028-3030)CGA>CAA		natural killer-tumor recognition sequence							56.0	61.0	60.0					3																	42680225		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680225G>A		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3029G>A	3.37:g.42680225G>A	ENSP00000232978:p.Arg1010Gln					NKTR_uc003clm.1_Missense_Mutation_p.R757Q|NKTR_uc003clp.2_Missense_Mutation_p.R757Q|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R900Q|NKTR_uc003clr.1_Missense_Mutation_p.R757Q|NKTR_uc003cls.2_Missense_Mutation_p.R710Q	p.R1010Q	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3176	+			1010			Arg/Lys-rich (basic).			Missense_Mutation	SNP	ENST00000232978.8	37	c.3029G>A	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273674	0.40194	.	.	ENSG00000114857	ENST00000232978	T	0.13307	2.6	5.21	5.21	0.72293	.	0.077815	0.52532	D	0.000064	T	0.07503	0.0189	L	0.27944	0.81	0.80722	D	1	P;P	0.44006	0.824;0.73	B;B	0.31101	0.124;0.026	T	0.22695	-1.0209	10	0.34782	T	0.22	-6.8686	9.5593	0.39360	0.1593:0.0:0.8407:0.0	.	710;1010	Q6M1B8;P30414	.;NKTR_HUMAN	Q	1010	ENSP00000232978:R1010Q	ENSP00000232978:R1010Q	R	+	2	0	NKTR	42655229	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	2.501000	0.45389	2.593000	0.87608	0.650000	0.86243	CGA		0.383	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		10	42	0	0	0	0.010729	0	10	42		
ZNF445	353274	broad.mit.edu	37	3	44497015	44497015	+	Silent	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:44497015G>T	ENST00000396077.2	-	3	374	c.27C>A	c.(25-27)gcC>gcA	p.A9A	ZNF445_ENST00000425708.2_Silent_p.A9A	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	9					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAGCTGGATAGGCAGCATGCC	0.557																																						uc003cnf.2		NaN																	0				ovary(1)	1						c.(25-27)GCC>GCA		zinc finger protein 445							50.0	48.0	49.0					3																	44497015		2203	4300	6503	SO:0001819	synonymous_variant	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44497015G>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.27C>A	3.37:g.44497015G>T						ZNF445_uc011azv.1_Silent_p.A9A|ZNF445_uc011azw.1_Silent_p.A9A	p.A9A	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	3	375	-			9					Q3MJD1	Silent	SNP	ENST00000396077.2	37	c.27C>A	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	0.178	-1.065399	0.01934	.	.	ENSG00000185219	ENST00000430301	.	.	.	4.02	-1.09	0.09904	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1478	0.10224	0.2989:0.3337:0.3674:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF445	44472019	0.002000	0.14202	0.005000	0.12908	0.092000	0.18411	0.580000	0.23803	-0.228000	0.09869	-0.251000	0.11542	.		0.557	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2		NM_181489		10	47	1	0	2.17888e-05	0.006214	2.24697e-05	10	47		
C3orf62	375341	broad.mit.edu	37	3	49308828	49308828	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:49308828C>G	ENST00000343010.3	-	3	1625	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q	MIR4271_ENST00000582451.1_RNA|Y_RNA_ENST00000362676.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	197										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AATTCGTTTTCAAATTCTATT	0.423																																						uc003cwn.2		NaN																	0					0						c.(589-591)GAA>CAA		hypothetical protein LOC375341							72.0	76.0	75.0					3																	49308828		2203	4300	6503	SO:0001583	missense	375341							g.chr3:49308828C>G	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.589G>C	3.37:g.49308828C>G	ENSP00000341139:p.Glu197Gln					C3orf62_uc003cwm.2_Missense_Mutation_p.E46Q|hsa-mir-4271|MI0015879_5'Flank	p.E197Q	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	792	-			197					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.589G>C	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938793	0.73557	.	.	ENSG00000188315	ENST00000343010	T	0.60299	0.2	5.3	5.3	0.74995	.	0.000000	0.50627	D	0.000115	T	0.66416	0.2787	L	0.34521	1.04	0.36832	D	0.886925	D	0.89917	1.0	D	0.87578	0.998	T	0.72554	-0.4258	10	0.87932	D	0	-23.8339	14.3179	0.66465	0.0:1.0:0.0:0.0	.	197	Q6ZUJ4	CC062_HUMAN	Q	197	ENSP00000341139:E197Q	ENSP00000341139:E197Q	E	-	1	0	C3orf62	49283832	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	2.613000	0.46351	2.745000	0.94114	0.585000	0.79938	GAA		0.423	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1		NM_198562		11	55	0	0	0	0.008291	0	11	55		
GMPPB	29925	broad.mit.edu	37	3	49756821	49756821	+	3'UTR	SNP	G	G	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:49756821G>T	ENST00000480687.1	-	0	3563				RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Missense_Mutation_p.F26L|AMIGO3_ENST00000320431.7_Missense_Mutation_p.F26L			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACGGGGCGGGAAACCCTCGG	0.642											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cxj.2		NaN																	0				pancreas(1)	1						c.(76-78)TTC>TTA		adhesion molecule with Ig-like domain 3							54.0	60.0	58.0					3																	49756821		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756821G>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2364C>A	3.37:g.49756821G>T			OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.F26L	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	418	-			26			Extracellular (Potential).|LRRNT.		A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.78C>A	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	G	8.959	0.970057	0.18659	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.58060	0.36;0.36	5.8	-4.51	0.03483	.	1.743440	0.02800	N	0.123059	T	0.26011	0.0634	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.39099	-0.9630	10	0.02654	T	1	-3.8921	7.719	0.28721	0.5894:0.0:0.2949:0.1156	.	26	Q86WK7	AMGO3_HUMAN	L	26	ENSP00000323096:F26L;ENSP00000439268:F26L	ENSP00000323096:F26L	F	-	3	2	AMIGO3	49731825	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.229000	0.09098	-1.059000	0.03193	-0.140000	0.14226	TTC		0.642	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1		NM_013334		13	37	1	0	9.31168e-06	0.016723	9.64033e-06	13	37		
DOCK3	1795	broad.mit.edu	37	3	51317569	51317569	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:51317569C>T	ENST00000266037.9	+	27	2879	c.2856C>T	c.(2854-2856)ctC>ctT	p.L952L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	952					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTCACTGCTCCGCCAGATGT	0.517																																						uc011bds.1		NaN																	0					0						c.(2854-2856)CTC>CTT		dedicator of cytokinesis 3							89.0	89.0	89.0					3																	51317569		2098	4231	6329	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51317569C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2856C>T	3.37:g.51317569C>T							p.L952L	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	27	2879	+			952					O15017	Silent	SNP	ENST00000266037.9	37	c.2856C>T	CCDS46835.1																																																																																				0.517	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		NM_004947		3	25	0	0	0	0.009096	0	3	25		
DNAH1	25981	broad.mit.edu	37	3	52398976	52398976	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:52398976G>A	ENST00000420323.2	+	34	5720	c.5459G>A	c.(5458-5460)gGc>gAc	p.G1820D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1820					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGGACTACGGCATCCTGGAT	0.607																																						uc011bef.1		NaN																	0				large_intestine(3)	3						c.(5458-5460)GGC>GAC		dynein, axonemal, heavy chain 1							80.0	83.0	82.0					3																	52398976		2126	4244	6370	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52398976G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5459G>A	3.37:g.52398976G>A	ENSP00000401514:p.Gly1820Asp						p.G1820D	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	34	5720	+			1820					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.5459G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.522709	0.44866	.	.	ENSG00000114841	ENST00000420323	T	0.38240	1.15	4.6	4.6	0.57074	.	0.000000	0.46758	D	0.000262	T	0.38878	0.1057	L	0.55213	1.73	0.58432	D	0.999994	P	0.41475	0.751	B	0.42738	0.396	T	0.16188	-1.0411	10	0.20519	T	0.43	.	17.4432	0.87570	0.0:0.0:1.0:0.0	.	1820	C9JXH6	.	D	1820	ENSP00000401514:G1820D	ENSP00000401514:G1820D	G	+	2	0	DNAH1	52374016	1.000000	0.71417	0.990000	0.47175	0.382000	0.30200	4.422000	0.59854	2.128000	0.65567	0.467000	0.42956	GGC		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512		14	63	0	0	0	0.004007	0	14	63		
TFG	10342	broad.mit.edu	37	3	100467340	100467340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:100467340C>T	ENST00000240851.4	+	8	1508	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	TFG_ENST00000476228.1_Nonsense_Mutation_p.Q386*|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Nonsense_Mutation_p.Q386*|TFG_ENST00000490574.1_Nonsense_Mutation_p.Q390*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	390					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TCCCTTTGGTCAGGGCTATAC	0.498			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc003due.2		NaN		Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL|NSCLC	TFG/ALK(7)	0				haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11						c.(1168-1170)CAG>TAG		TRK-fused							75.0	70.0	72.0					3																	100467340		2203	4299	6502	SO:0001587	stop_gained	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100467340C>T	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.1168C>T	3.37:g.100467340C>T	ENSP00000240851:p.Gln390*					TFG_uc003duf.2_Nonsense_Mutation_p.Q390*|TFG_uc003dug.2_Nonsense_Mutation_p.Q386*|TFG_uc003duh.2_Nonsense_Mutation_p.Q386*|TFG_uc003dui.2_Nonsense_Mutation_p.Q390*	p.Q390*	NM_006070	NP_006061	Q92734	TFG_HUMAN			8	1617	+			390					D3DN49|G5E9V1|Q15656|Q969I2	Nonsense_Mutation	SNP	ENST00000240851.4	37	c.1168C>T	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	C	39	7.291899	0.98192	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-2.9424	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	386;390;390;386	.	ENSP00000240851:Q390X	Q	+	1	0	TFG	101950030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.227000	0.65305	2.937000	0.99478	0.650000	0.86243	CAG		0.498	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1		NM_006070		11	48	0	0	0	0.013537	0	11	48		
CBLB	868	broad.mit.edu	37	3	105459361	105459361	+	Silent	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:105459361C>G	ENST00000264122.4	-	7	1281	c.960G>C	c.(958-960)ctG>ctC	p.L320L	CBLB_ENST00000394027.3_Silent_p.L342L|CBLB_ENST00000403724.1_Silent_p.L320L|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.L320L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	320	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGCCATCAATCAGGGCTTGAA	0.418			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NaN		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(958-960)CTG>CTC		Cas-Br-M (murine) ecotropic retroviral							139.0	121.0	127.0					3																	105459361		2203	4300	6503	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105459361C>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.960G>C	3.37:g.105459361C>G						CBLB_uc011bhi.1_Silent_p.L342L|CBLB_uc003dwd.1_Silent_p.L320L|CBLB_uc003dwe.1_Silent_p.L320L|CBLB_uc011bhj.1_RNA	p.L320L	NM_170662	NP_733762	Q13191	CBLB_HUMAN			7	1282	-			320			Cbl-PTB.|SH2-like.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.960G>C	CCDS2948.1																																																																																				0.418	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2		NM_170662		20	50	0	0	0	0.012319	0	20	50		
DPPA4	55211	broad.mit.edu	37	3	109056349	109056349	+	Missense_Mutation	SNP	C	C	T	rs375057383		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:109056349C>T	ENST00000335658.6	-	1	70	c.16G>A	c.(16-18)Gct>Act	p.A6T	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	6					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTAGAAGAAGCGGAGCCTCGC	0.493																																						uc003dxq.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(16-18)GCT>ACT		developmental pluripotency associated 4		C	THR/ALA	0,4406		0,0,2203	144.0	117.0	126.0		16	-0.5	0.0	3		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	DPPA4	NM_018189.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	6/305	109056349	1,13005	2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109056349C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.16G>A	3.37:g.109056349C>T	ENSP00000335306:p.Ala6Thr					DPPA4_uc011bho.1_Missense_Mutation_p.A6T|DPPA4_uc011bhp.1_Missense_Mutation_p.A6T	p.A6T	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			1	71	-			6					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.16G>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	6.915	0.538437	0.13250	0.0	1.16E-4	ENSG00000121570	ENST00000335658	T	0.25579	1.79	3.21	-0.545	0.11843	.	4.743100	0.00447	N	0.000081	T	0.18718	0.0449	L	0.36672	1.1	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.06405	0.002;0.001	T	0.10314	-1.0635	9	.	.	.	8.5277	2.1544	0.03808	0.2333:0.2867:0.0:0.48	.	6;6	B7Z595;Q7L190	.;DPPA4_HUMAN	T	6	ENSP00000335306:A6T	.	A	-	1	0	DPPA4	110539039	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.032000	0.12266	-0.099000	0.12263	-0.471000	0.05019	GCT		0.493	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1		NM_018189		9	32	0	0	0	0.004482	0	9	32		
POLQ	10721	broad.mit.edu	37	3	121228970	121228970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:121228970G>A	ENST00000264233.5	-	11	1860	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	578					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTCCAAGCTGAACAGACTCT	0.428								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NaN																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(1732-1734)CAG>TAG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							209.0	179.0	189.0					3																	121228970		2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121228970G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1732C>T	3.37:g.121228970G>A	ENSP00000264233:p.Gln578*						p.Q578*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	11	1861	-			578					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.1732C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	37	6.314051	0.97467	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	4.86	1.69	0.24217	.	0.360736	0.28067	N	0.016732	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	4.1779	0.10360	0.0833:0.2979:0.4655:0.1533	.	.	.	.	X	201;578;714	.	ENSP00000264233:Q578X	Q	-	1	0	POLQ	122711660	0.598000	0.26882	0.787000	0.31911	0.916000	0.54674	2.018000	0.40991	0.390000	0.25115	0.460000	0.39030	CAG		0.428	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420		23	62	0	0	0	0.012319	0	23	62		
PLCH1	23007	broad.mit.edu	37	3	155199036	155199036	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:155199036C>T	ENST00000340059.7	-	23	4802	c.4803G>A	c.(4801-4803)aaG>aaA	p.K1601K	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.K1563K|PLCH1_ENST00000460012.1_Silent_p.K1563K|PLCH1_ENST00000334686.6_Silent_p.K1563K|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1601					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAACTTTCTGCTTGTTGGCTT	0.547																																						uc011bok.1		NaN																	0				skin(3)|ovary(1)	4						c.(4801-4803)AAG>AAA		phospholipase C eta 1 isoform a							132.0	129.0	130.0					3																	155199036		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199036C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4803G>A	3.37:g.155199036C>T						PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.K1563K	p.K1601K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5080	-			1601					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.4803G>A	CCDS46939.1																																																																																				0.547	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996		28	52	0	0	0	0.004656	0	28	52		
PLCH1	23007	broad.mit.edu	37	3	155199541	155199541	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:155199541G>C	ENST00000340059.7	-	23	4297	c.4298C>G	c.(4297-4299)tCt>tGt	p.S1433C	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1395C|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1395C|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1395C|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1433					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCTAGATAAGAAATACTTTG	0.413																																						uc011bok.1		NaN																	0				skin(3)|ovary(1)	4						c.(4297-4299)TCT>TGT		phospholipase C eta 1 isoform a							90.0	90.0	90.0					3																	155199541		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199541G>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4298C>G	3.37:g.155199541G>C	ENSP00000345988:p.Ser1433Cys					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.S1395C	p.S1433C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4575	-			1433					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4298C>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592341	0.46214	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.08	4.2	0.49525	.	1.564180	0.03299	N	0.188691	D	0.86948	0.6056	L	0.56769	1.78	0.09310	N	0.999999	D;D	0.71674	0.998;0.997	P;P	0.61592	0.891;0.781	T	0.71227	-0.4655	10	0.66056	D	0.02	.	14.5272	0.67897	0.0:0.0:0.852:0.148	.	1395;1433	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	C	1395;1433;1395;1395	ENSP00000417502:S1395C;ENSP00000345988:S1433C;ENSP00000335469:S1395C;ENSP00000412977:S1395C	ENSP00000335469:S1395C	S	-	2	0	PLCH1	156682235	0.997000	0.39634	0.003000	0.11579	0.987000	0.75469	3.901000	0.56303	1.126000	0.42016	0.585000	0.79938	TCT		0.413	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996		28	46	0	0	0	0.004656	0	28	46		
ACTL6A	86	broad.mit.edu	37	3	179294032	179294032	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:179294032G>A	ENST00000429709.2	+	6	717	c.504G>A	c.(502-504)ctG>ctA	p.L168L	ACTL6A_ENST00000450518.2_Silent_p.L126L|ACTL6A_ENST00000392662.1_Silent_p.L126L|ACTL6A_ENST00000467615.1_3'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	168					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CTACTGGGCTGATTTTGGACA	0.398																																						uc003fjw.2		NaN																	0				ovary(1)	1						c.(502-504)CTG>CTA		actin-like 6A isoform 1							156.0	158.0	158.0					3																	179294032		2203	4300	6503	SO:0001819	synonymous_variant	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179294032G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.504G>A	3.37:g.179294032G>A						ACTL6A_uc003fjx.2_Silent_p.L126L|ACTL6A_uc003fjy.2_Silent_p.L126L	p.L168L	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		6	677	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		168					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Silent	SNP	ENST00000429709.2	37	c.504G>A	CCDS3231.1																																																																																				0.398	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1		NM_004301		13	26	0	0	0	0.004007	0	13	26		
ACTL6A	86	broad.mit.edu	37	3	179294656	179294656	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:179294656G>C	ENST00000429709.2	+	8	936	c.723G>C	c.(721-723)gaG>gaC	p.E241D	ACTL6A_ENST00000450518.2_Missense_Mutation_p.E199D|ACTL6A_ENST00000392662.1_Missense_Mutation_p.E199D|ACTL6A_ENST00000467615.1_3'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	241					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AAAGAAAAGAGAAGTTGCCTC	0.418																																						uc003fjw.2		NaN																	0				ovary(1)	1						c.(721-723)GAG>GAC		actin-like 6A isoform 1							125.0	124.0	124.0					3																	179294656		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179294656G>C	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.723G>C	3.37:g.179294656G>C	ENSP00000397552:p.Glu241Asp					ACTL6A_uc003fjx.2_Missense_Mutation_p.E199D|ACTL6A_uc003fjy.2_Missense_Mutation_p.E199D	p.E241D	NM_004301	NP_004292	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		8	896	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		241					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.723G>C	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744436	0.30865	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.94687	-3.49;-3.38;-3.38	5.24	2.43	0.29744	.	0.000000	0.85682	D	0.000000	D	0.89914	0.6853	L	0.42487	1.325	0.53688	D	0.999976	B	0.09022	0.002	B	0.12156	0.007	D	0.85491	0.1185	10	0.38643	T	0.18	.	9.0323	0.36267	0.283:0.0:0.717:0.0	.	241	O96019	ACL6A_HUMAN	D	241;199;199	ENSP00000397552:E241D;ENSP00000394014:E199D;ENSP00000376430:E199D	ENSP00000376430:E199D	E	+	3	2	ACTL6A	180777350	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.438000	0.35002	1.200000	0.43188	0.650000	0.86243	GAG		0.418	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1		NM_004301		28	54	0	0	0	0.00632	0	28	54		
RTP1	132112	broad.mit.edu	37	3	186917517	186917517	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr3:186917517G>A	ENST00000312295.4	+	2	481	c.451G>A	c.(451-453)Gag>Aag	p.E151K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	151					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGAGAACATCGAGGGCCTGGT	0.682																																						uc003frg.2		NaN																	0				ovary(2)|breast(1)	3						c.(451-453)GAG>AAG		receptor transporting protein 1							26.0	26.0	26.0					3																	186917517		2203	4295	6498	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917517G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.451G>A	3.37:g.186917517G>A	ENSP00000311712:p.Glu151Lys						p.E151K	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	481	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		151			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000312295.4	37	c.451G>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493681	0.84962	.	.	ENSG00000175077	ENST00000312295	T	0.15256	2.44	5.7	5.7	0.88788	.	0.242742	0.48286	D	0.000187	T	0.26557	0.0649	L	0.51422	1.61	0.31532	N	0.661007	D	0.58268	0.982	P	0.52758	0.708	T	0.06516	-1.0822	10	0.22706	T	0.39	.	15.3379	0.74273	0.0:0.0:1.0:0.0	.	151	P59025	RTP1_HUMAN	K	151	ENSP00000311712:E151K	ENSP00000311712:E151K	E	+	1	0	RTP1	188400211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.797000	0.38804	2.711000	0.92665	0.561000	0.74099	GAG		0.682	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2		NM_153708		5	31	0	0	0	0.014758	0	5	31		
SH3TC1	54436	broad.mit.edu	37	4	8214432	8214432	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:8214432G>C	ENST00000245105.3	+	4	319	c.252G>C	c.(250-252)ctG>ctC	p.L84L	SH3TC1_ENST00000539824.1_Silent_p.L8L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	84										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTCCAGACCTGACCCTGCAGC	0.662																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3		NaN																	0				large_intestine(2)|pancreas(1)	3						c.(250-252)CTG>CTC		SH3 domain and tetratricopeptide repeats 1							21.0	25.0	24.0					4																	8214432		2199	4296	6495	SO:0001819	synonymous_variant	54436						binding	g.chr4:8214432G>C	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.252G>C	4.37:g.8214432G>C						SH3TC1_uc003gkw.3_Silent_p.L8L|SH3TC1_uc003gkx.3_RNA	p.L84L	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			4	353	+			84					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.252G>C	CCDS3399.1																																																																																				0.662	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2		NM_018986		7	23	0	0	0	0.001984	0	7	23		
LIN54	132660	broad.mit.edu	37	4	83858433	83858433	+	Silent	SNP	C	C	G	rs369299740		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:83858433C>G	ENST00000340417.3	-	9	1928	c.1551G>C	c.(1549-1551)tcG>tcC	p.S517S	LIN54_ENST00000510557.1_Silent_p.S296S|LIN54_ENST00000505397.1_Silent_p.S517S|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Silent_p.S428S|LIN54_ENST00000446851.2_Silent_p.S296S|LIN54_ENST00000442461.2_Silent_p.S296S|LIN54_ENST00000506560.1_Silent_p.S428S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	517					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.S517S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GCCGACTGGCCGACTCTGATG	0.303																																						uc003hnx.3		NaN																	1	Substitution - coding silent(1)		kidney(1)		0						c.(1549-1551)TCG>TCC		lin-54 homolog isoform a							76.0	81.0	80.0					4																	83858433		2203	4300	6503	SO:0001819	synonymous_variant	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83858433C>G	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1551G>C	4.37:g.83858433C>G						LIN54_uc003hnz.3_Silent_p.S296S|LIN54_uc003hny.3_Silent_p.S116S|LIN54_uc010ijt.2_Silent_p.S428S|LIN54_uc010iju.2_Silent_p.S116S|LIN54_uc010ijv.2_Silent_p.S296S	p.S517S	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN			9	1929	-		Hepatocellular(203;0.114)	517					Q32M68|Q32M69|Q6N071|Q76B60	Silent	SNP	ENST00000340417.3	37	c.1551G>C	CCDS3599.1																																																																																				0.303	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2		NM_194282		10	69	0	0	0	0.006214	0	10	69		
GPRIN3	285513	broad.mit.edu	37	4	90170794	90170794	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:90170794C>T	ENST00000609438.1	-	2	986	c.468G>A	c.(466-468)atG>atA	p.M156I	GPRIN3_ENST00000333209.4_Missense_Mutation_p.M156I	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	156										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTGTGATCTCATCAGGGAAT	0.517																																						uc003hsm.1		NaN																	0				ovary(3)	3						c.(466-468)ATG>ATA		G protein-regulated inducer of neurite outgrowth							154.0	149.0	151.0					4																	90170794		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170794C>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.468G>A	4.37:g.90170794C>T	ENSP00000476603:p.Met156Ile						p.M156I	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	987	-		Hepatocellular(203;0.114)	156					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.468G>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.471079	0.26423	.	.	ENSG00000185477	ENST00000333209	T	0.09350	2.99	4.42	0.676	0.17958	.	0.933487	0.08673	N	0.910697	T	0.05960	0.0155	N	0.14661	0.345	0.09310	N	1	B	0.18610	0.029	B	0.13407	0.009	T	0.42982	-0.9419	10	0.32370	T	0.25	-0.3636	4.8927	0.13735	0.0:0.5176:0.1484:0.3341	.	156	Q6ZVF9	GRIN3_HUMAN	I	156	ENSP00000328672:M156I	ENSP00000328672:M156I	M	-	3	0	GPRIN3	90389817	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.091000	0.15046	0.076000	0.16826	0.650000	0.86243	ATG		0.517	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2		NM_198281		28	63	0	0	0	0.004656	0	28	63		
LEF1	51176	broad.mit.edu	37	4	108999479	108999479	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:108999479G>A	ENST00000265165.1	-	8	1559	c.905C>T	c.(904-906)cCt>cTt	p.P302L	LEF1_ENST00000379951.2_Missense_Mutation_p.P274L|LEF1_ENST00000510624.1_Missense_Mutation_p.P206L|LEF1_ENST00000438313.2_Missense_Mutation_p.P274L|LEF1_ENST00000503879.1_5'UTR	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	302					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGCATTCAGAGGCTTCTTAAT	0.443																																						uc003hyt.1		NaN																	0				large_intestine(1)	1						c.(904-906)CCT>CTT		lymphoid enhancer-binding factor 1 isoform 1							248.0	251.0	250.0					4																	108999479		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:108999479G>A		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.905C>T	4.37:g.108999479G>A	ENSP00000265165:p.Pro302Leu					LEF1_uc011cfj.1_Missense_Mutation_p.P159L|LEF1_uc011cfk.1_Missense_Mutation_p.P206L|LEF1_uc003hyu.1_Missense_Mutation_p.P274L|LEF1_uc003hyv.1_Missense_Mutation_p.P274L|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'UTR|LEF1_uc003hyw.1_RNA	p.P302L	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	8	1560	-			302			HMG box.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.905C>T	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446829	0.96205	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.99220	-5.58;-5.58;-5.58;-5.58	5.89	5.89	0.94794	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	H	0.98155	4.16	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.999;0.994;1.0;1.0	D	0.97423	1.0010	10	0.87932	D	0	.	20.248	0.98401	0.0:0.0:1.0:0.0	.	206;159;274;274;302	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	L	302;274;274;206	ENSP00000265165:P302L;ENSP00000369284:P274L;ENSP00000406176:P274L;ENSP00000422840:P206L	ENSP00000265165:P302L	P	-	2	0	LEF1	109218928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.790000	0.95986	0.655000	0.94253	CCT		0.443	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2				72	166	0	0	0	0.01441	0	72	166		
LEF1	51176	broad.mit.edu	37	4	109084785	109084785	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:109084785G>C	ENST00000265165.1	-	3	1007	c.353C>G	c.(352-354)cCa>cGa	p.P118R	LEF1_ENST00000512172.1_Missense_Mutation_p.P50R|LEF1_ENST00000379951.2_Missense_Mutation_p.P118R|LEF1_ENST00000510624.1_Missense_Mutation_p.P50R|LEF1_ENST00000438313.2_Missense_Mutation_p.P118R	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	118	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		ATTCATATTTGGCATCATTAT	0.428																																						uc003hyt.1		NaN																	0				large_intestine(1)	1						c.(352-354)CCA>CGA		lymphoid enhancer-binding factor 1 isoform 1							184.0	164.0	171.0					4																	109084785		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109084785G>C		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.353C>G	4.37:g.109084785G>C	ENSP00000265165:p.Pro118Arg					LEF1_uc011cfj.1_Missense_Mutation_p.P3R|LEF1_uc011cfk.1_Missense_Mutation_p.P50R|LEF1_uc003hyu.1_Missense_Mutation_p.P118R|LEF1_uc003hyv.1_Missense_Mutation_p.P118R|LEF1_uc010imb.1_RNA	p.P118R	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	3	1008	-			118			Pro-rich.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.353C>G	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677140	0.47886	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	D;D;D;D	0.99515	-6.06;-5.93;-5.91;-5.98	5.74	5.74	0.90152	CTNNB1 binding, N-teminal (1);	0.120444	0.56097	D	0.000034	D	0.99290	0.9752	L	0.61036	1.89	0.38223	D	0.940816	P;B;P;P;P	0.44877	0.611;0.395;0.703;0.845;0.844	B;B;B;P;P	0.55749	0.179;0.249;0.323;0.568;0.783	D	0.99944	1.1441	10	0.87932	D	0	-13.7977	19.9173	0.97066	0.0:0.0:1.0:0.0	.	50;3;118;118;118	E9PDK3;B4DZY5;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;LEF1_HUMAN	R	118;118;118;50;50;50	ENSP00000265165:P118R;ENSP00000369284:P118R;ENSP00000406176:P118R;ENSP00000422840:P50R	ENSP00000265165:P118R	P	-	2	0	LEF1	109304234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.847000	0.69451	2.707000	0.92482	0.563000	0.77884	CCA		0.428	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2				22	70	0	0	0	0.012319	0	22	70		
MARCH1	55016	broad.mit.edu	37	4	165118848	165118848	+	Intron	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:165118848G>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAATGAATCCGTCTGCCCATC	0.552																																						uc011cjk.1		NaN																	0					0						c.(16-18)CGG>TGG		acidic nuclear phosphoprotein 32C							97.0	100.0	99.0					4																	165118848		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118848G>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-86034C>T	4.37:g.165118848G>A						MARCH1_uc003iqs.1_Intron	p.R6W	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	16	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	6					D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.16C>T	CCDS54814.1																																																																																				0.552	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2		NM_017923		38	87	0	0	0	0.006999	0	38	87		
SLC6A19	340024	broad.mit.edu	37	5	1219057	1219057	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:1219057G>A	ENST00000304460.10	+	9	1269	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	405					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTCTTCACCGAGGCCATCAC	0.607																																						uc003jbw.3		NaN																	0					0	GRCh37	CM085709	SLC6A19	M		c.(1213-1215)GAG>AAG		solute carrier family 6, member 19							342.0	258.0	287.0					5																	1219057		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219057G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1213G>A	5.37:g.1219057G>A	ENSP00000305302:p.Glu405Lys						p.E405K	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	1269	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		405			Extracellular (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1213G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	35	5.484249	0.96307	.	.	ENSG00000174358	ENST00000304460	T	0.75154	-0.91	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88684	0.3204	10	0.87932	D	0	.	17.2798	0.87125	0.0:0.0:1.0:0.0	.	405	Q695T7	S6A19_HUMAN	K	405	ENSP00000305302:E405K	ENSP00000305302:E405K	E	+	1	0	SLC6A19	1272057	1.000000	0.71417	0.903000	0.35520	0.955000	0.61496	9.606000	0.98325	2.081000	0.62600	0.491000	0.48974	GAG		0.607	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1		XM_291120		19	36	0	0	0	0.008871	0	19	36		
CTNND2	1501	broad.mit.edu	37	5	11117566	11117566	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:11117566C>A	ENST00000304623.8	-	13	2462	c.2273G>T	c.(2272-2274)aGc>aTc	p.S758I	CTNND2_ENST00000458100.2_Missense_Mutation_p.S325I|CTNND2_ENST00000503622.1_Missense_Mutation_p.S421I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.S758I|CTNND2_ENST00000511377.1_Missense_Mutation_p.S667I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	758					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACCAACCTTGCTATCGATCTC	0.512																																						uc003jfa.1		NaN																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2272-2274)AGC>ATC		catenin (cadherin-associated protein), delta 2							178.0	160.0	166.0					5																	11117566		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11117566C>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2273G>T	5.37:g.11117566C>A	ENSP00000307134:p.Ser758Ile					CTNND2_uc010itt.2_Missense_Mutation_p.S667I|CTNND2_uc011cmy.1_Missense_Mutation_p.S421I|CTNND2_uc011cmz.1_Missense_Mutation_p.S325I|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S325I	p.S758I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			13	2418	-			758			ARM 6.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2273G>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047253	0.93740	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	M	0.68317	2.08	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.78314	0.991;0.991;0.986	D	0.89750	0.3939	10	0.87932	D	0	-25.1836	19.6126	0.95616	0.0:1.0:0.0:0.0	.	421;325;758	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	I	758;758;667;325;421	ENSP00000307134:S758I;ENSP00000352661:S758I;ENSP00000426510:S667I;ENSP00000391155:S325I;ENSP00000426887:S421I	ENSP00000307134:S758I	S	-	2	0	CTNND2	11170566	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.407000	0.80029	2.647000	0.89833	0.650000	0.86243	AGC		0.512	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332		29	87	1	0	2.12542e-12	0.00632	2.29963e-12	29	87		
ADAMTS12	81792	broad.mit.edu	37	5	33588796	33588796	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:33588796C>T	ENST00000504830.1	-	18	3108	c.2773G>A	c.(2773-2775)Gac>Aac	p.D925N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D840N|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	925	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTGGCAGTCTGTGGGCGGG	0.627										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2773-2775)GAC>AAC		ADAM metallopeptidase with thrombospondin type 1							127.0	128.0	128.0					5																	33588796		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33588796C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2773G>A	5.37:g.33588796C>T	ENSP00000422554:p.Asp925Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.D840N	p.D925N	NM_030955	NP_112217	P58397	ATS12_HUMAN			18	2936	-			925			TSP type-1 3.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2773G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932485	0.52866	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60548	0.18;0.18	6.08	4.24	0.50183	.	0.188866	0.56097	D	0.000030	T	0.58047	0.2095	L	0.60455	1.87	0.80722	D	1	P;B	0.46142	0.873;0.261	B;B	0.43916	0.436;0.221	T	0.55636	-0.8110	10	0.27785	T	0.31	.	16.6929	0.85326	0.0:0.7553:0.2447:0.0	.	840;925	P58397-3;P58397	.;ATS12_HUMAN	N	925;840	ENSP00000422554:D925N;ENSP00000344847:D840N	ENSP00000344847:D840N	D	-	1	0	ADAMTS12	33624553	0.998000	0.40836	0.715000	0.30552	0.651000	0.38670	3.921000	0.56454	0.838000	0.34948	-0.282000	0.10007	GAC		0.627	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		29	77	0	0	0	0.00632	0	29	77		
RICTOR	253260	broad.mit.edu	37	5	38955780	38955780	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:38955780C>T	ENST00000357387.3	-	26	2556	c.2526G>A	c.(2524-2526)ttG>ttA	p.L842L	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Silent_p.L842L	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GTTCCTCAATCAAGTCAACAT	0.358																																						uc003jlp.2		NaN																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(2524-2526)TTG>TTA		rapamycin-insensitive companion of mTOR							161.0	151.0	154.0					5																	38955780		2203	4300	6503	SO:0001819	synonymous_variant	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38955780C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2526G>A	5.37:g.38955780C>T						RICTOR_uc003jlo.2_Silent_p.L842L|RICTOR_uc010ivf.2_Silent_p.L557L	p.L842L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			26	2550	-	all_lung(31;0.000396)		842						Silent	SNP	ENST00000357387.3	37	c.2526G>A	CCDS34148.1																																																																																				0.358	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1		NM_152756		12	54	0	0	0	0.013537	0	12	54		
PDE4D	5144	broad.mit.edu	37	5	58270810	58270810	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:58270810T>C	ENST00000340635.6	-	15	2286	c.2111A>G	c.(2110-2112)aAt>aGt	p.N704S	PDE4D_ENST00000507116.1_Missense_Mutation_p.N640S|PDE4D_ENST00000503258.1_Missense_Mutation_p.N574S|PDE4D_ENST00000546160.1_Missense_Mutation_p.N643S|PDE4D_ENST00000502484.2_Missense_Mutation_p.N643S|PDE4D_ENST00000360047.5_Missense_Mutation_p.N568S|PDE4D_ENST00000405755.2_Missense_Mutation_p.N582S|PDE4D_ENST00000317118.8_Missense_Mutation_p.N413S|PDE4D_ENST00000358923.6_Missense_Mutation_p.N402S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	704					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CCATTCACGATTGTCCTCCAA	0.532																																						uc003jsa.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(2110-2112)AAT>AGT		phosphodiesterase 4D isoform 1	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						68.0	70.0	69.0					5																	58270810		2033	4202	6235	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58270810T>C		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2111A>G	5.37:g.58270810T>C	ENSP00000345502:p.Asn704Ser					PDE4D_uc003jrx.2_Missense_Mutation_p.N568S|PDE4D_uc003jry.2_Missense_Mutation_p.N402S|PDE4D_uc003jrz.2_Missense_Mutation_p.N640S|PDE4D_uc003jsb.2_Missense_Mutation_p.N643S|PDE4D_uc003jrt.2_Missense_Mutation_p.N402S|PDE4D_uc003jru.2_Missense_Mutation_p.N480S|PDE4D_uc003jrv.2_Missense_Mutation_p.N574S|PDE4D_uc003jrw.2_Missense_Mutation_p.N582S|PDE4D_uc003jrs.2_Missense_Mutation_p.N413S	p.N704S	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	15	2283	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	704					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.2111A>G	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890928	0.72524	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.08	5.08	0.68730	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.091355	0.64402	D	0.000001	D	0.91872	0.7427	H	0.96691	3.865	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	0.982;0.986;0.982;1.0;1.0;0.982;1.0;1.0	D;D;D;D;D;D;D;D	0.83275	0.918;0.951;0.918;0.996;0.996;0.918;0.972;0.972	D	0.94312	0.7546	10	0.66056	D	0.02	.	14.9976	0.71446	0.0:0.0:0.0:1.0	.	643;704;640;567;582;574;479;413	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	S	704;573;568;640;402;413;574;582;643;643;402	ENSP00000345502:N704S;ENSP00000353152:N568S;ENSP00000424852:N640S;ENSP00000351800:N402S;ENSP00000321739:N413S;ENSP00000425605:N574S;ENSP00000384806:N582S;ENSP00000423094:N643S;ENSP00000442734:N643S;ENSP00000421013:N402S	ENSP00000321739:N413S	N	-	2	0	PDE4D	58306567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.133000	0.65898	0.533000	0.62120	AAT		0.532	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3				8	27	0	0	0	0.00308	0	8	27		
FER	2241	broad.mit.edu	37	5	108290634	108290634	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:108290634G>A	ENST00000281092.4	+	12	1917		c.e12+1		FER_ENST00000536402.1_Intron|FER_ENST00000438717.2_Splice_Site	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ATATGTTGATGTACGTTTCCA	0.343																																					Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NaN																	0				lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.e12+1		fer (fps/fes related) tyrosine kinase							90.0	89.0	89.0					5																	108290634		2202	4299	6501	SO:0001630	splice_region_variant	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108290634G>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1533+1G>A	5.37:g.108290634G>A						FER_uc011cvf.1_Intron|FER_uc011cvg.1_Splice_Site_p.D336_splice	p.D511_splice	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	12	1917	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)						B2RCR4|B4DSQ2|H2FLB8	Splice_Site	SNP	ENST00000281092.4	37	c.1533_splice	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648189	0.87958	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7429	0.91780	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER	108318533	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.833000	0.99426	2.398000	0.81561	0.557000	0.71058	.		0.343	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1		NM_005246	Intron	24	48	0	0	0	0.021523	0	24	48		
PCDHB1	29930	broad.mit.edu	37	5	140432632	140432632	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:140432632A>G	ENST00000306549.3	+	1	1654	c.1577A>G	c.(1576-1578)cAa>cGa	p.Q526R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCCATTCAAGATTTTCAA	0.438																																						uc003lik.1		NaN																	0					0						c.(1576-1578)CAA>CGA		protocadherin beta 1 precursor							77.0	79.0	78.0					5																	140432632		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432632A>G	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1577A>G	5.37:g.140432632A>G	ENSP00000307234:p.Gln526Arg						p.Q526R	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1654	+			526			Cadherin 5.|Extracellular (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1577A>G	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.497778	0.26861	.	.	ENSG00000171815	ENST00000306549	T	0.60424	0.19	6.11	6.11	0.99139	Cadherin (5);Cadherin-like (1);	0.000000	0.43110	D	0.000618	T	0.38904	0.1058	N	0.16307	0.4	0.32275	N	0.5683	B	0.29232	0.238	B	0.32393	0.145	T	0.49322	-0.8952	10	0.21014	T	0.42	.	7.9499	0.30008	0.7899:0.1391:0.0709:0.0	.	526	Q9Y5F3	PCDB1_HUMAN	R	526	ENSP00000307234:Q526R	ENSP00000307234:Q526R	Q	+	2	0	PCDHB1	140412816	0.960000	0.32886	1.000000	0.80357	0.971000	0.66376	7.213000	0.77950	2.343000	0.79666	0.533000	0.62120	CAA		0.438	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340		12	39	0	0	0	0.010729	0	12	39		
PCDHGA11	56105	broad.mit.edu	37	5	140801665	140801665	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:140801665G>A	ENST00000398587.2	+	1	904	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.E291K|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	291	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGCTTCTGAAATATTCCA	0.428																																						uc003lkq.1		NaN																	0					0						c.(871-873)GAA>AAA		protocadherin gamma subfamily A, 11 isoform 1							127.0	128.0	128.0					5																	140801665		1820	4085	5905	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140801665G>A	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.871G>A	5.37:g.140801665G>A	ENSP00000381589:p.Glu291Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.E291K|PCDHGA11_uc003lkp.1_Missense_Mutation_p.E291K	p.E291K	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1129	+			291			Extracellular (Potential).|Cadherin 3.		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.871G>A	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	5.734	0.319969	0.10845	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.51071	0.72;0.72	5.71	1.79	0.24919	Cadherin (4);Cadherin-like (1);	0.729179	0.10294	U	0.692019	T	0.24774	0.0601	N	0.12853	0.265	0.09310	N	1	B;B;B	0.23806	0.004;0.091;0.013	B;B;B	0.17979	0.006;0.019;0.02	T	0.23048	-1.0199	10	0.17832	T	0.49	.	5.6844	0.17794	0.2279:0.2467:0.5254:0.0	.	291;291;291	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	K	291	ENSP00000381589:E291K;ENSP00000428333:E291K	ENSP00000381589:E291K	E	+	1	0	PCDHGA11	140781849	0.003000	0.15002	0.997000	0.53966	0.986000	0.74619	-0.229000	0.09098	0.359000	0.24239	0.655000	0.94253	GAA		0.428	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1		NM_018914		38	92	0	0	0	0.010771	0	38	92		
DIAPH1	1729	broad.mit.edu	37	5	140960344	140960344	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:140960344G>C	ENST00000398557.4	-	8	931	c.791C>G	c.(790-792)tCt>tGt	p.S264C	DIAPH1_ENST00000518047.1_Missense_Mutation_p.S255C|DIAPH1_ENST00000398562.2_Missense_Mutation_p.S255C|DIAPH1_ENST00000253811.6_Missense_Mutation_p.S264C|DIAPH1_ENST00000398566.3_Missense_Mutation_p.S255C|DIAPH1_ENST00000389057.5_Missense_Mutation_p.S255C|DIAPH1_ENST00000389054.3_Missense_Mutation_p.S264C|DIAPH1_ENST00000520569.1_Missense_Mutation_p.S210C	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	264	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAAGAGCAGAAAGCAGCTT	0.418																																						uc003llb.3		NaN																	0				skin(1)	1						c.(790-792)TCT>TGT		diaphanous 1 isoform 1							112.0	108.0	109.0					5																	140960344		1923	4141	6064	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140960344G>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.791C>G	5.37:g.140960344G>C	ENSP00000381565:p.Ser264Cys					DIAPH1_uc003llc.3_Missense_Mutation_p.S255C	p.S264C	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	932	-			264			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.791C>G	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854876	0.91355	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.69	5.69	0.88448	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000002	D	0.95095	0.8411	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95205	0.8320	10	0.87932	D	0	.	18.5725	0.91140	0.0:0.0:1.0:0.0	.	255;264	E9PEZ2;O60610	.;DIAP1_HUMAN	C	264;210;255;255;255;264;264;255	ENSP00000373706:S264C;ENSP00000429282:S210C;ENSP00000381570:S255C;ENSP00000373709:S255C;ENSP00000381572:S255C;ENSP00000381565:S264C;ENSP00000253811:S264C;ENSP00000428268:S255C	ENSP00000253811:S264C	S	-	2	0	DIAPH1	140940528	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.177000	0.94849	2.685000	0.91497	0.555000	0.69702	TCT		0.418	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_005219		15	55	0	0	0	0.003163	0	15	55		
RARS	5917	broad.mit.edu	37	5	167933745	167933745	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:167933745A>G	ENST00000231572.3	+	11	1309	c.1255A>G	c.(1255-1257)Ata>Gta	p.I419V	RARS_ENST00000538719.1_Missense_Mutation_p.I213V	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	419					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CTTCCAGACAATATTTGCTGC	0.398																																						uc003lzx.2		NaN																	0				ovary(2)|skin(1)	3						c.(1255-1257)ATA>GTA		arginyl-tRNA synthetase							179.0	152.0	161.0					5																	167933745		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167933745A>G	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1255A>G	5.37:g.167933745A>G	ENSP00000231572:p.Ile419Val					RARS_uc011deo.1_Missense_Mutation_p.I213V	p.I419V	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	11	1296	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	419					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.1255A>G	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	A	2.022	-0.424614	0.04734	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.63913	-0.07;-0.07	5.46	-9.58	0.00559	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.457965	0.25335	N	0.031410	T	0.28134	0.0694	N	0.02368	-0.58	0.25800	N	0.984519	B	0.02656	0.0	B	0.08055	0.003	T	0.26780	-1.0093	10	0.05620	T	0.96	-0.7239	21.9387	0.99963	0.2773:0.0:0.7227:0.0	.	419	P54136	SYRC_HUMAN	V	419;213	ENSP00000231572:I419V;ENSP00000439108:I213V	ENSP00000231572:I419V	I	+	1	0	RARS	167866323	0.001000	0.12720	0.053000	0.19242	0.995000	0.86356	-0.375000	0.07475	-1.897000	0.01101	-0.256000	0.11100	ATA		0.398	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2		NM_002887		24	30	0	0	0	0.01892	0	24	30		
SH3PXD2B	285590	broad.mit.edu	37	5	171773245	171773245	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:171773245C>T	ENST00000311601.5	-	12	1253	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	SH3PXD2B_ENST00000519643.1_Silent_p.P361P	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	361					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCGGCTTCGGCAGGTTGA	0.597																																						uc003mbr.2		NaN																	0				ovary(3)|skin(1)	4						c.(1081-1083)CCG>CCA		SH3 and PX domains 2B							197.0	188.0	191.0					5																	171773245		2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171773245C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1083G>A	5.37:g.171773245C>T							p.P361P	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		12	1254	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	361					B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.1083G>A	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	c	1.360	-0.589071	0.03799	.	.	ENSG00000174705	ENST00000518522	.	.	.	5.31	-6.2	0.02072	.	.	.	.	.	T	0.38427	0.1040	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40079	-0.9582	4	.	.	.	-18.0031	3.5203	0.07740	0.0872:0.1732:0.4276:0.312	.	.	.	.	Q	32	.	.	R	-	2	0	SH3PXD2B	171705850	0.018000	0.18449	0.853000	0.33588	0.193000	0.23685	-1.054000	0.03496	-1.101000	0.03027	-2.801000	0.00113	CGA		0.597	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1		NM_017963		34	68	0	0	0	0.019004	0	34	68		
NHLRC1	378884	broad.mit.edu	37	6	18122075	18122075	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:18122075C>T	ENST00000340650.3	-	1	776	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	255					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TGCAACCTTTCAGTTCTCCGA	0.632																																						uc003ncl.1		NaN																	0					0						c.(763-765)GAA>AAA		NHL repeat containing 1							43.0	47.0	46.0					6																	18122075		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122075C>T	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.763G>A	6.37:g.18122075C>T	ENSP00000345464:p.Glu255Lys						p.E255K	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	777	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	255			NHL 4.		Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.763G>A	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.998326	0.00435	.	.	ENSG00000187566	ENST00000340650	D	0.90261	-2.64	5.18	3.25	0.37280	Six-bladed beta-propeller, TolB-like (1);	0.532231	0.19499	N	0.112778	T	0.75072	0.3800	L	0.46157	1.445	0.09310	N	1	B	0.20887	0.049	B	0.22386	0.039	T	0.62562	-0.6828	10	0.18276	T	0.48	-9.1564	9.3863	0.38345	0.0:0.3719:0.5416:0.0866	.	255	Q6VVB1	NHLC1_HUMAN	K	255	ENSP00000345464:E255K	ENSP00000345464:E255K	E	-	1	0	NHLRC1	18230054	0.001000	0.12720	0.011000	0.14972	0.065000	0.16274	1.217000	0.32455	1.139000	0.42245	0.655000	0.94253	GAA		0.632	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1				9	23	0	0	0	0.006214	0	9	23		
ZBED9	114821	broad.mit.edu	37	6	28542657	28542657	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:28542657C>G	ENST00000452236.2	-	3	2442	c.1825G>C	c.(1825-1827)Gaa>Caa	p.E609Q	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCTGTGCATTCTTTTTCACAA	0.413																																						uc003nlo.2		NaN																	0				ovary(1)	1						c.(1825-1827)GAA>CAA		SCAN domain containing 3							64.0	60.0	62.0					6																	28542657		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28542657C>G																												ENST00000452236.2:c.1825G>C	6.37:g.28542657C>G	ENSP00000395259:p.Glu609Gln						p.E609Q	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	2443	-			609						Missense_Mutation	SNP	ENST00000452236.2	37	c.1825G>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399758	0.25291	.	.	ENSG00000232040	ENST00000452236	T	0.01313	5.02	3.18	2.28	0.28536	.	.	.	.	.	T	0.00496	0.0016	N	0.25647	0.755	0.22112	N	0.999356	B	0.06786	0.001	B	0.06405	0.002	T	0.47129	-0.9141	9	0.59425	D	0.04	.	8.1955	0.31394	0.0:0.7516:0.2484:0.0	.	609	Q6R2W3	SCND3_HUMAN	Q	609	ENSP00000395259:E609Q	ENSP00000395259:E609Q	E	-	1	0	SCAND3	28650636	0.987000	0.35691	0.942000	0.38095	0.954000	0.61252	1.172000	0.31908	0.645000	0.30675	0.563000	0.77884	GAA		0.413	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3				10	18	0	0	0	0.006214	0	10	18		
TNXB	7148	broad.mit.edu	37	6	32014154	32014155	+	Nonsense_Mutation	DNP	GG	GG	TT	rs374182516		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:32014154_32014155GG>TT	ENST00000375244.3	-	31	10604_10605	c.10403_10404CC>AA	c.(10402-10404)tCC>tAA	p.S3468*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.S3466*|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3513	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTACCGTCCAGGACAGGCGCAG	0.663																																						uc003nzl.2		NaN																	0					0						c.(10396-10398)TCC>TAA		tenascin XB isoform 1 precursor																																				SO:0001587	stop_gained	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32014154_32014155GG>TT	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10403_10404delinsTT	6.37:g.32014154_32014155delinsTT	ENSP00000364393:p.Ser3468*					TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_Translation_Start_Site	p.S3466*	NM_019105	NP_061978	P22105	TENX_HUMAN			31	10599_10600	-			3513			Fibronectin type-III 27.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Nonsense_Mutation	DNP	ENST00000375244.3	37	c.10397_10398CC>AA																																																																																					0.663	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		16	23	0	0	0	0.004672	0	16	23		
FKBP5	2289	broad.mit.edu	37	6	35543683	35543683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:35543683C>A	ENST00000539068.1	-	11	1505	c.1303G>T	c.(1303-1305)Gaa>Taa	p.E435*	FKBP5_ENST00000540787.1_Nonsense_Mutation_p.E256*|FKBP5_ENST00000357266.4_Nonsense_Mutation_p.E435*|FKBP5_ENST00000536438.1_Nonsense_Mutation_p.E435*	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	435					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GTGACCCCTTCTGAAGTCTTC	0.448																																						uc011dte.1		NaN																	0				ovary(1)	1						c.(1303-1305)GAA>TAA		FK506 binding protein 5 isoform 1							333.0	310.0	318.0					6																	35543683		2203	4300	6503	SO:0001587	stop_gained	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35543683C>A	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.1303G>T	6.37:g.35543683C>A	ENSP00000441205:p.Glu435*					FKBP5_uc003okx.2_Nonsense_Mutation_p.E435*|FKBP5_uc011dtf.1_Nonsense_Mutation_p.E256*|FKBP5_uc003oky.2_Nonsense_Mutation_p.E435*	p.E435*	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN			11	1506	-			435					F5H7R1|Q59EB8|Q5TGM6	Nonsense_Mutation	SNP	ENST00000539068.1	37	c.1303G>T	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	C	38	7.228334	0.98150	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400	.	.	.	5.17	2.35	0.29111	.	0.681305	0.14473	N	0.317465	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-9.6623	6.2557	0.20872	0.0:0.6834:0.1536:0.163	.	.	.	.	X	435;435;435;435;256;398	.	ENSP00000338160:E435X	E	-	1	0	FKBP5	35651661	0.015000	0.18098	0.021000	0.16686	0.992000	0.81027	1.193000	0.32162	0.539000	0.28788	0.655000	0.94253	GAA		0.448	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2				48	160	1	0	1.86633e-21	0.01441	2.036e-21	48	160		
LRFN2	57497	broad.mit.edu	37	6	40360393	40360393	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:40360393G>A	ENST00000338305.6	-	3	2201	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	553						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGCACCATGAGGATGACGA	0.632																																						uc003oph.1		NaN																	0				ovary(2)|skin(1)	3						c.(1657-1659)CTC>CTT		leucine rich repeat and fibronectin type III							73.0	57.0	62.0					6																	40360393		2203	4300	6503	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360393G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1659C>T	6.37:g.40360393G>A							p.L553L	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			3	2124	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		553			Helical; (Potential).		A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.1659C>T	CCDS34443.1																																																																																				0.632	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1		XM_166372		11	22	0	0	0	0.008291	0	11	22		
TRERF1	55809	broad.mit.edu	37	6	42224510	42224510	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:42224510C>T	ENST00000372922.4	-	12	3098	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	TRERF1_ENST00000354325.2_Missense_Mutation_p.E763K|TRERF1_ENST00000541110.1_Missense_Mutation_p.E866K|TRERF1_ENST00000340840.2_Missense_Mutation_p.E763K|TRERF1_ENST00000372917.4_Missense_Mutation_p.E763K	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	846	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AAAGCAAATTCAGAATTGGTC	0.438																																						uc003osd.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2536-2538)GAA>AAA		transcriptional regulating factor 1							128.0	123.0	125.0					6																	42224510		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42224510C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2536G>A	6.37:g.42224510C>T	ENSP00000362013:p.Glu846Lys					TRERF1_uc011duq.1_Missense_Mutation_p.E763K|TRERF1_uc003osb.2_Missense_Mutation_p.E602K|TRERF1_uc003osc.2_Missense_Mutation_p.E602K|TRERF1_uc003ose.2_Missense_Mutation_p.E866K	p.E846K	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		12	3099	-	Colorectal(47;0.196)		846			ELM2.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.2536G>A	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653891	0.88056	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.28454	1.61;1.77;1.66;1.77;1.79	5.74	5.74	0.90152	ELM2 domain (1);	0.000000	0.64402	D	0.000010	T	0.58018	0.2093	M	0.85630	2.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.997	D;D;D;D;D	0.85130	0.997;0.994;0.994;0.997;0.992	T	0.62393	-0.6864	10	0.87932	D	0	-17.5712	20.2982	0.98569	0.0:1.0:0.0:0.0	.	763;866;846;602;602	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	K	866;763;846;763;763	ENSP00000439689:E866K;ENSP00000362008:E763K;ENSP00000362013:E846K;ENSP00000339438:E763K;ENSP00000346285:E763K	ENSP00000339438:E763K	E	-	1	0	TRERF1	42332488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.684000	0.84104	2.873000	0.98535	0.563000	0.77884	GAA		0.438	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		15	43	0	0	0	0.00499	0	15	43		
PKHD1	5314	broad.mit.edu	37	6	51768474	51768474	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:51768474G>A	ENST00000371117.3	-	43	7192	c.6917C>T	c.(6916-6918)tCt>tTt	p.S2306F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2306F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2306					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCGGCACCAGAAACCTGGAT	0.413																																						uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(6916-6918)TCT>TTT		fibrocystin isoform 1							186.0	169.0	175.0					6																	51768474		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51768474G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6917C>T	6.37:g.51768474G>A	ENSP00000360158:p.Ser2306Phe					PKHD1_uc010jzn.1_Missense_Mutation_p.S289F|PKHD1_uc003pai.2_Missense_Mutation_p.S2306F	p.S2306F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			43	7193	-	Lung NSC(77;0.0605)		2306			PbH1 3.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6917C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690231	0.29962	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80033	-1.33;-1.33	5.87	3.72	0.42706	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.284783	0.30483	N	0.009523	T	0.58018	0.2093	L	0.41824	1.3	0.34120	D	0.664059	B;B;P	0.39326	0.421;0.163;0.668	B;B;B	0.40444	0.233;0.063;0.329	T	0.54957	-0.8215	10	0.18276	T	0.48	.	10.0699	0.42325	0.0839:0.1422:0.7738:0.0	.	2306;2306;2306	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	2306	ENSP00000360158:S2306F;ENSP00000341097:S2306F	ENSP00000341097:S2306F	S	-	2	0	PKHD1	51876433	1.000000	0.71417	0.990000	0.47175	0.414000	0.31173	2.973000	0.49264	1.419000	0.47118	0.650000	0.86243	TCT		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		23	67	0	0	0	0.016522	0	23	67		
BACH2	60468	broad.mit.edu	37	6	90642373	90642373	+	Silent	SNP	G	G	A	rs368652670		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:90642373G>A	ENST00000257749.4	-	9	2987	c.2280C>T	c.(2278-2280)tgC>tgT	p.C760C	BACH2_ENST00000343122.3_Silent_p.C760C|BACH2_ENST00000537989.1_Silent_p.C760C	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	760						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCCACTGCGCATTGGGAGG	0.637																																						uc011eab.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(2278-2280)TGC>TGT		BTB and CNC homology 1, basic leucine zipper		G	,	1,4405	4.2+/-10.8	0,1,2202	42.0	43.0	42.0		2280,2280	-3.2	0.1	6		42	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BACH2	NM_001170794.1,NM_021813.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	760/842,760/842	90642373	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90642373G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2280C>T	6.37:g.90642373G>A						BACH2_uc003pnw.2_Silent_p.C760C	p.C760C	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	9	3089	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	760					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.2280C>T	CCDS5026.1																																																																																				0.637	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2		NM_021813		11	34	0	0	0	0.013537	0	11	34		
SCAF8	22828	broad.mit.edu	37	6	155153375	155153375	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:155153375C>G	ENST00000367178.3	+	20	3238	c.2662C>G	c.(2662-2664)Cca>Gca	p.P888A	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000417268.1_Missense_Mutation_p.P888A|SCAF8_ENST00000367186.4_Missense_Mutation_p.P954A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	888	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGTACAGCCACCAAATGTTCC	0.458																																						uc003qqa.2		NaN																	0					0						c.(2662-2664)CCA>GCA		RNA-binding motif protein 16							98.0	101.0	100.0					6																	155153375		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155153375C>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2662C>G	6.37:g.155153375C>G	ENSP00000356146:p.Pro888Ala					TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.P954A|RBM16_uc011efk.1_Missense_Mutation_p.P933A|RBM16_uc003qpz.2_Missense_Mutation_p.P888A|RBM16_uc010kji.2_Intron	p.P888A	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	21	2894	+		Ovarian(120;0.196)	888			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.2662C>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620724	0.46736	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.45276	0.92;0.92;0.9	5.58	5.58	0.84498	.	0.412478	0.20034	U	0.100641	T	0.45617	0.1351	M	0.72894	2.215	0.38584	D	0.950251	P;P;P	0.51351	0.944;0.944;0.944	P;P;P	0.49708	0.62;0.62;0.62	T	0.46176	-0.9210	10	0.48119	T	0.1	.	17.7563	0.88450	0.0:1.0:0.0:0.0	.	933;954;888	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	A	888;888;954	ENSP00000356146:P888A;ENSP00000413098:P888A;ENSP00000356154:P954A	ENSP00000356146:P888A	P	+	1	0	SCAF8	155195067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.901000	0.56303	2.632000	0.89209	0.655000	0.94253	CCA		0.458	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1		NM_014892		33	42	0	0	0	0.010818	0	33	42		
SCAF8	22828	broad.mit.edu	37	6	155153393	155153393	+	Missense_Mutation	SNP	C	C	G	rs374454882		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr6:155153393C>G	ENST00000367178.3	+	20	3256	c.2680C>G	c.(2680-2682)Cct>Gct	p.P894A	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000417268.1_Missense_Mutation_p.P894A|SCAF8_ENST00000367186.4_Missense_Mutation_p.P960A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	894	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TCCAAATACTCCTGGACTTCT	0.453																																						uc003qqa.2		NaN																	0					0						c.(2680-2682)CCT>GCT		RNA-binding motif protein 16							105.0	109.0	108.0					6																	155153393		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155153393C>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2680C>G	6.37:g.155153393C>G	ENSP00000356146:p.Pro894Ala					TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.P960A|RBM16_uc011efk.1_Missense_Mutation_p.P939A|RBM16_uc003qpz.2_Missense_Mutation_p.P894A|RBM16_uc010kji.2_Intron	p.P894A	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	21	2912	+		Ovarian(120;0.196)	894			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.2680C>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	c	3.624	-0.077040	0.07184	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.40476	1.06;1.06;1.03	5.58	0.187	0.15109	.	0.485081	0.20282	N	0.095430	T	0.03263	0.0095	N	0.02011	-0.69	0.09310	N	0.999991	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.44174	-0.9345	10	0.02654	T	1	.	7.8228	0.29296	0.0:0.0734:0.4241:0.5025	.	939;960;894	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	A	894;894;960	ENSP00000356146:P894A;ENSP00000413098:P894A;ENSP00000356154:P960A	ENSP00000356146:P894A	P	+	1	0	SCAF8	155195085	0.007000	0.16637	0.367000	0.25926	0.996000	0.88848	-0.113000	0.10774	-0.184000	0.10567	-0.285000	0.09966	CCT		0.453	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1		NM_014892		34	47	0	0	0	0.013726	0	34	47		
MIOS	54468	broad.mit.edu	37	7	7612191	7612191	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:7612191C>G	ENST00000340080.4	+	4	506	c.85C>G	c.(85-87)Cat>Gat	p.H29D	MIOS_ENST00000405785.1_Missense_Mutation_p.H29D	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	29						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAGTCTTTATCATGTGGAATC	0.383																																						uc003srf.2		NaN																	0					0						c.(85-87)CAT>GAT		missing oocyte, meiosis regulator, homolog							144.0	129.0	134.0					7																	7612191		1887	4116	6003	SO:0001583	missense	54468							g.chr7:7612191C>G		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.85C>G	7.37:g.7612191C>G	ENSP00000339881:p.His29Asp					MIOS_uc010ktp.1_Missense_Mutation_p.H29D	p.H29D	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			4	393	+			29					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.85C>G	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595410	0.46318	.	.	ENSG00000164654	ENST00000340080;ENST00000405785;ENST00000433635;ENST00000456533;ENST00000433056;ENST00000445169	T;T	0.40225	1.04;1.04	5.85	5.85	0.93711	.	0.103999	0.64402	D	0.000002	T	0.28928	0.0718	N	0.08118	0	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.06338	-1.0832	10	0.30078	T	0.28	-25.5969	20.5471	0.99284	0.0:1.0:0.0:0.0	.	29	Q9NXC5	MIO_HUMAN	D	29	ENSP00000339881:H29D;ENSP00000384088:H29D	ENSP00000339881:H29D	H	+	1	0	MIOS	7578716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.389000	0.59639	2.941000	0.99782	0.655000	0.94253	CAT		0.383	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1		NM_019005		9	28	0	0	0	0.004482	0	9	28		
GLI3	2737	broad.mit.edu	37	7	42005908	42005908	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:42005908G>A	ENST00000395925.3	-	15	2847	c.2763C>T	c.(2761-2763)ctC>ctT	p.L921L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	921					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGCGGGCGTGAGGCTGAGCA	0.701									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(2761-2763)CTC>CTT		GLI-Kruppel family member GLI3							19.0	25.0	23.0					7																	42005908		2189	4291	6480	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005908G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2763C>T	7.37:g.42005908G>A						GLI3_uc011kbg.1_Silent_p.L862L	p.L921L	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	2854	-			921					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.2763C>T	CCDS5465.1																																																																																				0.701	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		9	23	0	0	0	0.006214	0	9	23		
ASL	435	broad.mit.edu	37	7	65553815	65553815	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:65553815C>T	ENST00000304874.9	+	11	842	c.740C>T	c.(739-741)tCg>tTg	p.S247L	AC068533.7_ENST00000450043.1_Silent_p.F15F|ASL_ENST00000395331.3_Missense_Mutation_p.S247L|ASL_ENST00000380839.4_Missense_Mutation_p.S221L|ASL_ENST00000395332.3_Missense_Mutation_p.S247L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	247					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TTCTGGGCTTCGCTGTGCATG	0.587																																						uc003tuo.2		NaN																	0				breast(2)	2						c.(739-741)TCG>TTG		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						85.0	63.0	71.0					7																	65553815		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65553815C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.740C>T	7.37:g.65553815C>T	ENSP00000307188:p.Ser247Leu					ASL_uc003tup.2_Missense_Mutation_p.S247L|ASL_uc003tur.2_Missense_Mutation_p.S221L|ASL_uc003tuq.2_Missense_Mutation_p.S247L	p.S247L	NM_000048	NP_000039	P04424	ARLY_HUMAN			11	851	+			247					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.740C>T	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	35	5.534777	0.96460	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99252	-5.63;-5.63;-5.63;-5.63;-5.63	5.82	5.82	0.92795	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.065188	0.64402	D	0.000005	D	0.99251	0.9739	M	0.88842	2.985	0.80722	D	1	P;D;D	0.53745	0.55;0.962;0.962	P;P;P	0.50590	0.477;0.645;0.645	D	0.99833	1.1055	10	0.87932	D	0	.	19.0811	0.93182	0.0:1.0:0.0:0.0	.	221;247;247	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	L	247;221;247;182;247	ENSP00000307188:S247L;ENSP00000370219:S221L;ENSP00000378741:S247L;ENSP00000354710:S182L;ENSP00000378740:S247L	ENSP00000307188:S247L	S	+	2	0	ASL	65191250	1.000000	0.71417	0.910000	0.35882	0.876000	0.50452	7.099000	0.76981	2.756000	0.94617	0.561000	0.74099	TCG		0.587	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2		NM_000048		8	34	0	0	0	0.004482	0	8	34		
FZD9	8326	broad.mit.edu	37	7	72849364	72849364	+	Missense_Mutation	SNP	G	G	A	rs559231844		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:72849364G>A	ENST00000344575.3	+	1	1256	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	343					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCTGGCTGCCGGGAAGAAATG	0.637																																					Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2		NaN																	0				central_nervous_system(1)	1						c.(1027-1029)GGG>AGG		frizzled 9 precursor							66.0	63.0	64.0					7																	72849364		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849364G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1027G>A	7.37:g.72849364G>A	ENSP00000345785:p.Gly343Arg						p.G343R	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	1256	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	343			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344575.3	37	c.1027G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707455	0.68615	.	.	ENSG00000188763	ENST00000344575	D	0.82893	-1.66	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.136711	0.48286	U	0.000193	D	0.90817	0.7116	M	0.87971	2.92	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	D	0.91601	0.5295	10	0.87932	D	0	.	9.8917	0.41294	0.0957:0.0:0.9043:0.0	.	343	O00144	FZD9_HUMAN	R	343	ENSP00000345785:G343R	ENSP00000345785:G343R	G	+	1	0	FZD9	72487300	1.000000	0.71417	0.988000	0.46212	0.932000	0.56968	6.798000	0.75155	2.105000	0.64084	0.563000	0.77884	GGG		0.637	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1				10	47	0	0	0	0.006214	0	10	47		
CLIP2	7461	broad.mit.edu	37	7	73771712	73771712	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:73771712G>A	ENST00000395060.1	+	5	1120	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	CLIP2_ENST00000361545.5_Missense_Mutation_p.E374K|CLIP2_ENST00000223398.6_Missense_Mutation_p.E374K			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	374						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCTGCTGGCTGAACGAGACCT	0.612																																						uc003uam.2		NaN																	0				skin(3)	3						c.(1120-1122)GAA>AAA		CAP-GLY domain containing linker protein 2							53.0	36.0	42.0					7																	73771712		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73771712G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1120G>A	7.37:g.73771712G>A	ENSP00000378500:p.Glu374Lys					CLIP2_uc003uan.2_Missense_Mutation_p.E374K	p.E374K	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			6	1447	+			374			Potential.		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.1120G>A	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062332	0.93898	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.70869	-0.52;-0.51;-0.52	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.85414	0.5691	M	0.85945	2.785	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.87660	0.2534	10	0.66056	D	0.02	-26.0325	16.6549	0.85225	0.0:0.0:1.0:0.0	.	374;374	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	K	374	ENSP00000223398:E374K;ENSP00000355151:E374K;ENSP00000378500:E374K	ENSP00000223398:E374K	E	+	1	0	CLIP2	73409648	1.000000	0.71417	0.819000	0.32651	0.804000	0.45430	9.337000	0.96545	2.507000	0.84556	0.561000	0.74099	GAA		0.612	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1		NM_003388		6	9	0	0	0	0.001984	0	6	9		
CLIP2	7461	broad.mit.edu	37	7	73811473	73811473	+	Silent	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:73811473G>C	ENST00000395060.1	+	13	2790	c.2790G>C	c.(2788-2790)ctG>ctC	p.L930L	CLIP2_ENST00000361545.5_Silent_p.L895L|CLIP2_ENST00000223398.6_Silent_p.L930L			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	930						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGAGGGACCTGAGCCGTGAGG	0.627																																						uc003uam.2		NaN																	0				skin(3)	3						c.(2788-2790)CTG>CTC		CAP-GLY domain containing linker protein 2							98.0	89.0	92.0					7																	73811473		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73811473G>C	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2790G>C	7.37:g.73811473G>C						CLIP2_uc003uan.2_Silent_p.L895L	p.L930L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			14	3117	+			930			Potential.		O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.2790G>C	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	9.503	1.103760	0.20632	.	.	ENSG00000106665	ENST00000493166	.	.	.	4.54	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.947	13.2645	0.60125	0.0:0.1607:0.8393:0.0	.	.	.	.	S	180	.	.	X	+	2	2	CLIP2	73449409	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.463000	0.53050	0.891000	0.36235	0.561000	0.74099	TGA		0.627	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1		NM_003388		11	28	0	0	0	0.010729	0	11	28		
ZC3HAV1L	92092	broad.mit.edu	37	7	138711457	138711457	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:138711457G>A	ENST00000275766.1	-	4	894	c.883C>T	c.(883-885)Cca>Tca	p.P295S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	295										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GGTTTACCTGGGCAGGGCTTC	0.502																																						uc003vum.1		NaN																	0					0						c.(883-885)CCA>TCA		zinc finger CCCH-type, antiviral 1-like							78.0	82.0	81.0					7																	138711457		2203	4300	6503	SO:0001583	missense	92092							g.chr7:138711457G>A	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.883C>T	7.37:g.138711457G>A	ENSP00000275766:p.Pro295Ser						p.P295S	NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN			4	895	-			295					Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	c.883C>T	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979529	0.74360	.	.	ENSG00000146858	ENST00000275766	.	.	.	3.4	-0.602	0.11634	.	0.882556	0.09237	N	0.829749	T	0.15912	0.0383	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.20605	-1.0270	9	0.51188	T	0.08	.	2.6365	0.04959	0.1238:0.4323:0.293:0.1509	.	295	Q96H79	ZCCHL_HUMAN	S	295	.	ENSP00000275766:P295S	P	-	1	0	ZC3HAV1L	138361997	0.011000	0.17503	0.024000	0.17045	0.973000	0.67179	-0.073000	0.11468	-0.133000	0.11537	0.561000	0.74099	CCA		0.502	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1		NM_080660		5	93	0	0	0	0.014758	0	5	93		
CUL1	8454	broad.mit.edu	37	7	148487405	148487405	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr7:148487405G>A	ENST00000325222.4	+	16	1957	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	CUL1_ENST00000602748.1_Missense_Mutation_p.E560K|CUL1_ENST00000409469.1_Missense_Mutation_p.E560K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	560					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TATCTAGTTGGAACGTAGTTA	0.428																																						uc010lpg.2		NaN																	0				lung(1)	1						c.(1678-1680)GAA>AAA		cullin 1							118.0	108.0	111.0					7																	148487405		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148487405G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1678G>A	7.37:g.148487405G>A	ENSP00000326804:p.Glu560Lys					CUL1_uc003wey.2_Missense_Mutation_p.E560K|CUL1_uc003wez.2_Missense_Mutation_p.E450K|CUL1_uc003wfa.2_Missense_Mutation_p.E221K	p.E560K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		16	2204	+	Melanoma(164;0.15)		560					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1678G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635593	0.47049	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.74106	-0.81;-0.81	5.24	5.24	0.73138	Cullin, N-terminal (1);Cullin homology (3);	0.049991	0.85682	D	0.000000	D	0.83436	0.5254	M	0.80332	2.49	0.80722	D	1	B;P	0.52316	0.131;0.952	B;P	0.59115	0.206;0.852	T	0.80322	-0.1431	10	0.07813	T	0.8	-32.5402	18.8329	0.92148	0.0:0.0:1.0:0.0	.	487;560	E7EWR0;Q13616	.;CUL1_HUMAN	K	560;560;518;487	ENSP00000387160:E560K;ENSP00000326804:E560K	ENSP00000326804:E560K	E	+	1	0	CUL1	148118338	1.000000	0.71417	0.987000	0.45799	0.138000	0.21146	9.538000	0.98072	2.442000	0.82660	0.655000	0.94253	GAA		0.428	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1		NM_003592		14	35	0	0	0	0.007413	0	14	35		
CSMD1	64478	broad.mit.edu	37	8	3000065	3000065	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:3000065T>C	ENST00000520002.1	-	42	6721	c.6166A>G	c.(6166-6168)Agc>Ggc	p.S2056G	CSMD1_ENST00000602557.1_Missense_Mutation_p.S2056G|CSMD1_ENST00000602723.1_Missense_Mutation_p.S2056G|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2055G|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.S2055G|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2056G|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2055G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2056	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCGTTGTGCTCAGCAGGGCC	0.478																																						uc011kwk.1		NaN																	0				breast(20)|large_intestine(5)	25						c.(6166-6168)AGC>GGC		CUB and Sushi multiple domains 1 precursor							103.0	109.0	107.0					8																	3000065		1982	4160	6142	SO:0001583	missense	64478					integral to membrane		g.chr8:3000065T>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6166A>G	8.37:g.3000065T>C	ENSP00000430733:p.Ser2056Gly					CSMD1_uc011kwj.1_Missense_Mutation_p.S1448G|CSMD1_uc010lrg.2_Missense_Mutation_p.S124G	p.S2056G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	41	6556	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2056			Extracellular (Potential).|CUB 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6166A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.35|17.35	3.367116|3.367116	0.61513|0.61513	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.60920	.|0.15;0.15;0.15;0.15;1.01	5.24|5.24	5.24|5.24	0.73138|0.73138	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81805|0.81805	0.4900|0.4900	M|M	0.93283|0.93283	3.4|3.4	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D;D	.|0.69078	.|0.995;0.997;0.994	.|D;D;D	.|0.79108	.|0.989;0.969;0.992	D|D	0.86996|0.86996	0.2113|0.2113	5|10	.|0.87932	.|D	.|0	.|.	15.4531|15.4531	0.75290|0.75290	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2056;2056;2055	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	G|G	1535|2056;2056;1917;2055;2055;2055	.|ENSP00000383047:S2056G;ENSP00000430733:S2056G;ENSP00000441462:S2055G;ENSP00000446243:S2055G;ENSP00000441675:S2055G	.|ENSP00000320445:S1917G	E|S	-|-	2|1	0|0	CSMD1|CSMD1	2987472|2987472	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.007000|0.007000	0.05969|0.05969	7.815000|7.815000	0.86186|0.86186	2.107000|2.107000	0.64212|0.64212	0.482000|0.482000	0.46254|0.46254	GAG|AGC		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		6	36	0	0	0	0.001168	0	6	36		
SCARA3	51435	broad.mit.edu	37	8	27507313	27507313	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:27507313G>C	ENST00000301904.3	+	2	122	c.102G>C	c.(100-102)caG>caC	p.Q34H	SCARA3_ENST00000337221.4_Missense_Mutation_p.Q34H	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	34					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATGCACCCAGAAGGGTAAGG	0.592																																						uc003xga.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(100-102)CAG>CAC		scavenger receptor class A, member 3 isoform 1							87.0	72.0	77.0					8																	27507313		2203	4300	6503	SO:0001583	missense	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27507313G>C	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.102G>C	8.37:g.27507313G>C	ENSP00000301904:p.Gln34His					SCARA3_uc003xgb.1_Missense_Mutation_p.Q34H	p.Q34H	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	2	243	+		Ovarian(32;2.61e-05)	34			Cytoplasmic (Potential).		Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	c.102G>C	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087486	0.36855	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.91521	2.44;-2.86	5.59	1.66	0.24008	.	0.158603	0.44483	D	0.000460	D	0.85053	0.5609	L	0.27053	0.805	0.30448	N	0.775511	P;P	0.47191	0.891;0.651	P;B	0.47528	0.549;0.347	T	0.81516	-0.0897	10	0.72032	D	0.01	-5.9338	7.1139	0.25407	0.3924:0.0:0.6076:0.0	.	34;34	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	H	34	ENSP00000337985:Q34H;ENSP00000301904:Q34H	ENSP00000301904:Q34H	Q	+	3	2	SCARA3	27563232	0.957000	0.32711	0.992000	0.48379	0.041000	0.13682	0.471000	0.22100	0.011000	0.14865	0.585000	0.79938	CAG		0.592	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2		NM_016240		8	17	0	0	0	0.00308	0	8	17		
PURG	29942	broad.mit.edu	37	8	30890034	30890034	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:30890034C>T	ENST00000475541.1	-	1	1197	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.E89K	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	89						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		ATCCAGACTTCGGCTATCTTT	0.542																																						uc003xin.2		NaN																	0					0						c.(265-267)GAA>AAA		purine-rich element binding protein G isoform A							62.0	58.0	59.0					8																	30890034		2203	4300	6503	SO:0001583	missense	29942					nucleus	DNA binding	g.chr8:30890034C>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.265G>A	8.37:g.30890034C>T	ENSP00000418721:p.Glu89Lys					WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.E89K	p.E89K	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	284	-			89			By similarity.		Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	c.265G>A	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165129	0.94768	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.47869	0.83;0.83	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.982	T	0.80717	-0.1258	10	0.87932	D	0	-8.8122	17.877	0.88828	0.0:1.0:0.0:0.0	.	89;89	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	K	89	ENSP00000345168:E89K;ENSP00000418721:E89K	ENSP00000345168:E89K	E	-	1	0	PURG	31009576	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.629000	0.83207	2.299000	0.77371	0.462000	0.41574	GAA		0.542	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1		NM_013357		16	27	0	0	0	0.003163	0	16	27		
GOT1L1	137362	broad.mit.edu	37	8	37791899	37791899	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:37791899T>A	ENST00000307599.4	-	9	1277	c.1178A>T	c.(1177-1179)gAg>gTg	p.E393V		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	393					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATTGATGCCCTCAGTGATGTA	0.408																																						uc011lbj.1		NaN																	0				ovary(1)	1						c.(1177-1179)GAG>GTG		glutamic-oxaloacetic transaminase 1-like 1							245.0	233.0	237.0					8																	37791899		1901	4134	6035	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37791899T>A	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.1178A>T	8.37:g.37791899T>A	ENSP00000303077:p.Glu393Val						p.E393V	NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		9	1278	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	393					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.1178A>T	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.491449	0.26774	.	.	ENSG00000169154	ENST00000307599	T	0.28666	1.6	5.37	4.21	0.49690	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.705698	0.12324	N	0.479020	T	0.41511	0.1162	M	0.65677	2.01	0.51482	D	0.999925	P	0.38677	0.642	P	0.45829	0.494	T	0.20672	-1.0268	10	0.62326	D	0.03	-0.0579	10.4067	0.44260	0.0:0.0:0.1643:0.8357	.	393	Q8NHS2	AATC2_HUMAN	V	393	ENSP00000303077:E393V	ENSP00000303077:E393V	E	-	2	0	GOT1L1	37911057	0.986000	0.35501	0.173000	0.22940	0.003000	0.03518	2.252000	0.43196	1.048000	0.40298	0.528000	0.53228	GAG		0.408	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1		NM_152413		42	86	0	0	0	0.009718	0	42	86		
POTEA	340441	broad.mit.edu	37	8	43197470	43197470	+	RNA	SNP	C	C	T	rs373140737		TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:43197470C>T	ENST00000522175.2	+	0	1223							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGATTTTAACGGTAGGACCA	0.373																																						uc003xpz.1		NaN																	0				ovary(1)	1						c.(1357-1359)AAC>AAT		POTE ankyrin domain family, member A isoform 2		C	,	0,3718		0,0,1859	120.0	113.0	115.0		1221,1359	-0.5	0.4	8		115	1,8187		0,1,4093	no	coding-synonymous-near-splice,coding-synonymous-near-splice	POTEA	NM_001002920.1,NM_001005365.2	,	0,1,5952	TT,TC,CC		0.0122,0.0,0.0084	,	407/453,453/499	43197470	1,11905	1859	4094	5953			340441							g.chr8:43197470C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43197470C>T						POTEA_uc003xqa.1_Silent_p.N407N	p.N453N	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			11	1402	+			453					A6ND17|A6ND71|Q6S8J6	Silent	SNP	ENST00000522175.2	37	c.1359C>T																																																																																					0.373	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1		NM_001002920		21	35	0	0	0	0.004656	0	21	35		
NPBWR1	2831	broad.mit.edu	37	8	53853373	53853373	+	Silent	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:53853373C>T	ENST00000331251.3	+	1	2383	c.906C>T	c.(904-906)ctC>ctT	p.L302L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	302					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				ACAGCTGCCTCAACCCCTTCC	0.652																																						uc011ldu.1		NaN																	0				ovary(2)|breast(1)	3						c.(904-906)CTC>CTT		G protein-coupled receptor 7							49.0	45.0	46.0					8																	53853373		2203	4300	6503	SO:0001819	synonymous_variant	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53853373C>T	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.906C>T	8.37:g.53853373C>T							p.L302L	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	906	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	302			Cytoplasmic (Potential).		Q6NTC7	Silent	SNP	ENST00000331251.3	37	c.906C>T	CCDS6151.1																																																																																				0.652	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1		NM_005285		11	24	0	0	0	0.016723	0	11	24		
ANKRD46	157567	broad.mit.edu	37	8	101540176	101540176	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:101540176C>G	ENST00000520552.1	-	4	528	c.367G>C	c.(367-369)Gat>Cat	p.D123H	ANKRD46_ENST00000520311.1_Missense_Mutation_p.D123H|ANKRD46_ENST00000519316.1_Intron|ANKRD46_ENST00000335659.3_Missense_Mutation_p.D123H|ANKRD46_ENST00000519597.1_Missense_Mutation_p.D123H	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	123						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CGGATGACATCTTTATTTACT	0.383																																						uc003yjm.2		NaN																	0					0						c.(367-369)GAT>CAT		ankyrin repeat domain 46																																				SO:0001583	missense	157567					integral to membrane		g.chr8:101540176C>G	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.367G>C	8.37:g.101540176C>G	ENSP00000429015:p.Asp123His					ANKRD46_uc003yjn.1_Missense_Mutation_p.D123H|ANKRD46_uc003yjo.1_Missense_Mutation_p.D123H|ANKRD46_uc003yjp.1_Missense_Mutation_p.D123H	p.D123H	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		4	571	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		123			ANK 4.		Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	c.367G>C	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511078	0.64522	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000358990	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.55	5.55	0.83447	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.51500	0.1678	L	0.51914	1.62	0.80722	D	1	D;P	0.65815	0.995;0.856	P;P	0.57204	0.815;0.557	T	0.47837	-0.9086	10	0.52906	T	0.07	-14.4225	19.5173	0.95170	0.0:1.0:0.0:0.0	.	123;123	Q86W74-2;Q86W74	.;ANR46_HUMAN	H	123	ENSP00000429015:D123H;ENSP00000335287:D123H;ENSP00000430056:D123H;ENSP00000428388:D123H;ENSP00000351881:D123H	ENSP00000335287:D123H	D	-	1	0	ANKRD46	101609352	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.723000	0.84788	2.615000	0.88500	0.563000	0.77884	GAT		0.383	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1		NM_198401		22	67	0	0	0	0.01892	0	22	67		
CSMD3	114788	broad.mit.edu	37	8	113358422	113358422	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr8:113358422A>G	ENST00000297405.5	-	41	6590	c.6346T>C	c.(6346-6348)Tca>Cca	p.S2116P	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2076P|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2012P|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2046P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2116	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2116T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGAAGTCTGACATAGCACCA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6346-6348)TCA>CCA		CUB and Sushi multiple domains 3 isoform 1							104.0	104.0	104.0					8																	113358422		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358422A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6346T>C	8.37:g.113358422A>G	ENSP00000297405:p.Ser2116Pro	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S1318P|CSMD3_uc003ynt.2_Missense_Mutation_p.S2076P|CSMD3_uc011lhx.1_Missense_Mutation_p.S2012P	p.S2116P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			41	6505	-			2116			Extracellular (Potential).|CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6346T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.558920	0.65538	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.44	5.44	0.79542	CUB (5);	0.091430	0.47093	D	0.000252	T	0.30978	0.0782	L	0.49126	1.545	0.37570	D	0.919388	P;P;D	0.71674	0.913;0.642;0.998	P;B;D	0.66847	0.69;0.356;0.947	T	0.09862	-1.0655	10	0.22706	T	0.39	.	11.6346	0.51196	0.8517:0.1483:0.0:0.0	.	2012;2116;2076	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	2076;2116;1386;2012;2046	ENSP00000345799:S2076P;ENSP00000297405:S2116P;ENSP00000341558:S1386P;ENSP00000412263:S2012P;ENSP00000343124:S2046P	ENSP00000297405:S2116P	S	-	1	0	CSMD3	113427598	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.078000	0.50096	2.285000	0.76669	0.528000	0.53228	TCA		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		15	43	0	0	0	0.004007	0	15	43		
RPP25L	138716	broad.mit.edu	37	9	34611268	34611268	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:34611268G>A	ENST00000297613.4	-	2	306	c.26C>T	c.(25-27)tCt>tTt	p.S9F	DCTN3_ENST00000479399.1_5'Flank|RPP25L_ENST00000378959.4_Missense_Mutation_p.S9F	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	9						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GAGCTCTACAGAGCCAGCTTT	0.577																																						uc003zuu.2		NaN																	0					0						c.(25-27)TCT>TTT		hypothetical protein LOC138716							68.0	74.0	72.0					9																	34611268		2203	4300	6503	SO:0001583	missense	138716						nucleic acid binding	g.chr9:34611268G>A	BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.26C>T	9.37:g.34611268G>A	ENSP00000297613:p.Ser9Phe					C9orf23_uc003zuv.2_Missense_Mutation_p.S9F	p.S9F	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0385)	2	307	-	all_epithelial(49;0.0863)		9					D3DRM5	Missense_Mutation	SNP	ENST00000297613.4	37	c.26C>T	CCDS6559.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419071	0.62622	.	.	ENSG00000164967	ENST00000378959;ENST00000297613	.	.	.	4.72	4.72	0.59763	.	0.457607	0.23770	N	0.044723	T	0.33731	0.0873	L	0.29908	0.895	0.36965	D	0.89354	P	0.42827	0.791	B	0.40565	0.333	T	0.40608	-0.9554	9	0.59425	D	0.04	-0.7435	6.4759	0.22034	0.1948:0.0:0.8052:0.0	.	9	Q8N5L8	CI023_HUMAN	F	9	.	ENSP00000297613:S9F	S	-	2	0	C9orf23	34601268	0.866000	0.29940	1.000000	0.80357	0.984000	0.73092	1.301000	0.33447	2.448000	0.82819	0.643000	0.83706	TCT		0.577	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1		NM_148179		5	14	0	0	0	0.001168	0	5	14		
OR1N2	138882	broad.mit.edu	37	9	125316096	125316096	+	Silent	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:125316096C>A	ENST00000373688.2	+	1	706	c.648C>A	c.(646-648)atC>atA	p.I216I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGCTGATGATCATCACCATGG	0.502																																						uc011lyx.1		NaN																	0				ovary(2)|skin(2)	4						c.(646-648)ATC>ATA		olfactory receptor, family 1, subfamily N,							259.0	237.0	244.0					9																	125316096		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316096C>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.648C>A	9.37:g.125316096C>A							p.I216I	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			1	648	+			216			Helical; Name=5; (Potential).		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.648C>A	CCDS35123.1																																																																																				0.502	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2				32	63	1	0	4.67007e-22	0.00874	5.11576e-22	32	63		
RABEPK	10244	broad.mit.edu	37	9	127996161	127996161	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:127996161G>A	ENST00000373538.3	+	8	1331	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	RABEPK_ENST00000394125.4_Missense_Mutation_p.E341K|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.E290K	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	341					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGACTCACATGAGGAAAGCCA	0.438																																						uc004bpi.2		NaN																	0				ovary(1)	1						c.(1021-1023)GAG>AAG		Rab9 effector protein with kelch motifs							192.0	175.0	181.0					9																	127996161		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127996161G>A	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.1021G>A	9.37:g.127996161G>A	ENSP00000362639:p.Glu341Lys					RABEPK_uc004bpj.2_Missense_Mutation_p.E290K|RABEPK_uc004bpk.2_Missense_Mutation_p.E341K|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.E341K	p.E341K	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN			9	1194	+			341					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.1021G>A	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	1.275	-0.611913	0.03690	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.42513	1.7;0.97;1.7	4.84	1.64	0.23874	Kelch-type beta propeller (1);	1.253300	0.05098	N	0.486538	T	0.28167	0.0695	L	0.32530	0.975	0.09310	N	0.999998	B;B	0.28713	0.007;0.22	B;B	0.22386	0.008;0.039	T	0.15954	-1.0419	10	0.08837	T	0.75	-7.7623	6.9523	0.24552	0.1019:0.2626:0.6355:0.0	.	290;341	Q7Z6M1-2;Q7Z6M1	.;RABEK_HUMAN	K	341;290;341	ENSP00000377683:E341K;ENSP00000259460:E290K;ENSP00000362639:E341K	ENSP00000259460:E290K	E	+	1	0	RABEPK	127035982	0.009000	0.17119	0.002000	0.10522	0.004000	0.04260	0.498000	0.22530	1.045000	0.40225	-0.145000	0.13849	GAG		0.438	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1		NM_005833		32	65	0	0	0	0.009535	0	32	65		
RABEPK	10244	broad.mit.edu	37	9	127996208	127996208	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:127996208G>A	ENST00000373538.3	+	8	1378	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	RABEPK_ENST00000394125.4_Missense_Mutation_p.M356I|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.M305I	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	356					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TTGGTGGGATGAATACAGAAG	0.408																																						uc004bpi.2		NaN																	0				ovary(1)	1						c.(1066-1068)ATG>ATA		Rab9 effector protein with kelch motifs							214.0	205.0	208.0					9																	127996208		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127996208G>A	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.1068G>A	9.37:g.127996208G>A	ENSP00000362639:p.Met356Ile					RABEPK_uc004bpj.2_Missense_Mutation_p.M305I|RABEPK_uc004bpk.2_Missense_Mutation_p.M356I|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.M356I	p.M356I	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN			9	1241	+			356					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.1068G>A	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830648	0.71258	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.58210	0.97;0.35;0.97	5.54	5.54	0.83059	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	M	0.78801	2.425	0.80722	D	1	P;B	0.37864	0.61;0.067	B;B	0.40228	0.323;0.012	T	0.57940	-0.7724	10	0.25106	T	0.35	-22.942	18.4712	0.90776	0.0:0.0:1.0:0.0	.	305;356	Q7Z6M1-2;Q7Z6M1	.;RABEK_HUMAN	I	356;305;356	ENSP00000377683:M356I;ENSP00000259460:M305I;ENSP00000362639:M356I	ENSP00000259460:M305I	M	+	3	0	RABEPK	127036029	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.061000	0.93913	2.607000	0.88179	0.650000	0.86243	ATG		0.408	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1		NM_005833		37	85	0	0	0	0.007835	0	37	85		
RABEPK	10244	broad.mit.edu	37	9	127996215	127996215	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:127996215G>A	ENST00000373538.3	+	8	1385	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	RABEPK_ENST00000394125.4_Missense_Mutation_p.E359K|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.E308K	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	359					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						GATGAATACAGAAGGGGAAAT	0.398																																						uc004bpi.2		NaN																	0				ovary(1)	1						c.(1075-1077)GAA>AAA		Rab9 effector protein with kelch motifs							212.0	205.0	207.0					9																	127996215		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127996215G>A	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.1075G>A	9.37:g.127996215G>A	ENSP00000362639:p.Glu359Lys					RABEPK_uc004bpj.2_Missense_Mutation_p.E308K|RABEPK_uc004bpk.2_Missense_Mutation_p.E359K|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.E359K	p.E359K	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN			9	1248	+			359					A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.1075G>A	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942158	0.53079	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.40225	1.76;1.04;1.76	5.54	5.54	0.83059	Kelch-type beta propeller (1);	0.242528	0.43110	D	0.000616	T	0.56877	0.2015	M	0.68317	2.08	0.80722	D	1	P;D	0.69078	0.824;0.997	B;D	0.75020	0.19;0.985	T	0.54609	-0.8268	10	0.30854	T	0.27	-27.7971	8.3196	0.32121	0.0832:0.1701:0.7467:0.0	.	308;359	Q7Z6M1-2;Q7Z6M1	.;RABEK_HUMAN	K	359;308;359	ENSP00000377683:E359K;ENSP00000259460:E308K;ENSP00000362639:E359K	ENSP00000259460:E308K	E	+	1	0	RABEPK	127036036	0.968000	0.33430	1.000000	0.80357	0.882000	0.50991	1.873000	0.39558	2.607000	0.88179	0.650000	0.86243	GAA		0.398	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1		NM_005833		36	86	0	0	0	0.007835	0	36	86		
CRAT	1384	broad.mit.edu	37	9	131870096	131870096	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:131870096G>C	ENST00000318080.2	-	2	582	c.288C>G	c.(286-288)aaC>aaG	p.N96K	CRAT_ENST00000464290.1_5'UTR|AL158151.2_ENST00000408594.1_RNA|CRAT_ENST00000393384.3_Missense_Mutation_p.N96K	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	96					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CACTCACCCAGTTCTCCGTCT	0.637																																						uc004bxh.2		NaN																	0				central_nervous_system(1)	1						c.(286-288)AAC>AAG		carnitine acetyltransferase precursor	L-Carnitine(DB00583)						73.0	57.0	63.0					9																	131870096		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131870096G>C	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.288C>G	9.37:g.131870096G>C	ENSP00000315013:p.Asn96Lys					CRAT_uc004bxg.2_Missense_Mutation_p.N75K|CRAT_uc004bxk.3_Missense_Mutation_p.N75K|CRAT_uc004bxj.2_Missense_Mutation_p.N97K	p.N96K	NM_000755	NP_000746	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	2	570	-			96					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.288C>G	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.679527	0.47886	.	.	ENSG00000095321	ENST00000351352;ENST00000318080;ENST00000393384	T;T	0.57107	0.42;0.42	5.36	4.46	0.54185	.	0.044871	0.85682	N	0.000000	T	0.80314	0.4600	H	0.96175	3.78	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86018	0.1505	10	0.87932	D	0	-55.3348	13.1594	0.59537	0.0769:0.0:0.9231:0.0	.	96;96	A6PVN3;P43155	.;CACP_HUMAN	K	96	ENSP00000315013:N96K;ENSP00000377045:N96K	ENSP00000315013:N96K	N	-	3	2	CRAT	130909917	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	6.678000	0.74508	1.261000	0.44149	-0.265000	0.10407	AAC		0.637	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1				9	13	0	0	0	0.008291	0	9	13		
ABL1	25	broad.mit.edu	37	9	133589745	133589745	+	IGR	SNP	A	A	G			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:133589745A>G								EXOSC2 (9497 upstream) : ABL1 (120707 downstream)																							GGGACCAAAGAAGGCCAAGCT	0.498																																						uc004bzv.2		NaN								T|Mis					BCR|ETV6|NUP214		CML|ALL|T-ALL		0				haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(37-39)AGA>AGG		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						96.0	93.0	94.0					9																	133589745		2203	4300	6503	SO:0001628	intergenic_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133589745A>G																													9.37:g.133589745A>G							p.R13R	NM_007313	NP_009297	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	1	478	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	Error:Variant_position_missing_in_P00519_after_alignment						Silent	SNP		37	c.39A>G																																																																																				0	0.498										21	21	0	0	0	0.010504	0	21	21		
PTCHD1	139411	broad.mit.edu	37	X	23398359	23398359	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:23398359G>A	ENST00000379361.4	+	2	1863	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	335	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGTCCCTTTCGTCATGCTAGG	0.483																																						uc004dal.3		NaN																	0				ovary(4)|kidney(1)|skin(1)	6						c.(1003-1005)GTC>ATC		patched domain containing 1							91.0	88.0	89.0					X																	23398359		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398359G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1003G>A	X.37:g.23398359G>A	ENSP00000368666:p.Val335Ile					PTCHD1_uc010nfu.1_Missense_Mutation_p.V335I	p.V335I	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			2	1011	+			335			Helical; (Potential).|SSD.		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.1003G>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876204	0.33162	.	.	ENSG00000165186	ENST00000379361	D	0.84589	-1.87	5.16	4.3	0.51218	Sterol-sensing domain (1);	0.059820	0.64402	D	0.000002	T	0.74076	0.3669	L	0.29908	0.895	0.40557	D	0.981173	B;B	0.17268	0.021;0.0	B;B	0.13407	0.009;0.001	T	0.68561	-0.5376	10	0.42905	T	0.14	-15.4932	5.7716	0.18257	0.1637:0.0:0.6795:0.1567	.	230;335	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	I	335	ENSP00000368666:V335I	ENSP00000368666:V335I	V	+	1	0	PTCHD1	23308280	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.772000	0.26647	1.291000	0.44653	-0.190000	0.12839	GTC		0.483	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2		NM_173495		10	83	0	0	0	0.013537	0	10	83		
RBM10	8241	broad.mit.edu	37	X	47044531	47044531	+	Silent	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:47044531C>A	ENST00000377604.3	+	18	2770	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	RBM10_ENST00000329236.7_Silent_p.I598I|RBM10_ENST00000345781.6_Silent_p.I599I	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	676					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCCAGCCTATCAGCTCCCTGC	0.567																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NaN																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(2026-2028)ATC>ATA		RNA binding motif protein 10 isoform 1							54.0	50.0	51.0					X																	47044531		2203	4300	6503	SO:0001819	synonymous_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47044531C>A	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2028C>A	X.37:g.47044531C>A						RBM10_uc004dhg.2_Silent_p.I598I|RBM10_uc004dhh.2_Silent_p.I675I|RBM10_uc010nhq.2_Silent_p.I599I|RBM10_uc004dhi.2_Silent_p.I741I	p.I676I	NM_005676	NP_005667	P98175	RBM10_HUMAN			18	2407	+			676					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	c.2028C>A	CCDS14274.1																																																																																				0.567	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1		NM_005676		13	26	1	0	3.27435e-08	0.020292	3.49971e-08	13	26		
CFP	5199	broad.mit.edu	37	X	47485822	47485822	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:47485822C>T	ENST00000396992.3	-	7	1157	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Missense_Mutation_p.R346H|CFP_ENST00000377005.2_Missense_Mutation_p.R346H	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	346	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R346H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGTCCTCCCGCGTGACTGCTG	0.622																																						uc004dig.3		NaN																	1	Substitution - Missense(1)		breast(1)	breast(2)|lung(1)	3						c.(1036-1038)CGC>CAC		complement factor properdin precursor							54.0	45.0	48.0					X																	47485822		2203	4300	6503	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47485822C>T	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.1037G>A	X.37:g.47485822C>T	ENSP00000380189:p.Arg346His					CFP_uc004dih.2_Missense_Mutation_p.R346H|CFP_uc004dii.1_Missense_Mutation_p.R282H|CFP_uc010nhu.2_Missense_Mutation_p.R346H	p.R346H	NM_001145252	NP_001138724	P27918	PROP_HUMAN			7	1163	-			346			TSP type-1 5.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.1037G>A	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596291	0.66332	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.80824	-1.42;-1.42;-1.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	M	0.92026	3.265	0.44337	D	0.997221	D;D	0.89917	1.0;0.976	D;P	0.87578	0.998;0.873	D	0.92844	0.6291	10	0.87932	D	0	.	13.2457	0.60022	0.0:1.0:0.0:0.0	.	282;346	B3KVK6;P27918	.;PROP_HUMAN	H	346	ENSP00000380189:R346H;ENSP00000247153:R346H;ENSP00000366204:R346H	ENSP00000247153:R346H	R	-	2	0	CFP	47370766	0.997000	0.39634	0.150000	0.22450	0.883000	0.51084	4.904000	0.63279	2.279000	0.76181	0.468000	0.43344	CGC		0.622	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2		NM_002621		12	23	0	0	0	0.020292	0	12	23		
SMC1A	8243	broad.mit.edu	37	X	53436094	53436094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:53436094C>A	ENST00000322213.4	-	9	1571	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	SMC1A_ENST00000375340.6_Nonsense_Mutation_p.E248*	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	482					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCTAGCTGCTCCATCACCTGG	0.562																																						uc004dsg.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(1444-1446)GAG>TAG		structural maintenance of chromosomes 1A							96.0	70.0	79.0					X																	53436094		2203	4300	6503	SO:0001587	stop_gained	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53436094C>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1444G>T	X.37:g.53436094C>A	ENSP00000323421:p.Glu482*					SMC1A_uc011moe.1_Nonsense_Mutation_p.E460*|SMC1A_uc011mof.1_Nonsense_Mutation_p.E248*	p.E482*	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			9	1513	-			482			Potential.		O14995|Q16351|Q2M228	Nonsense_Mutation	SNP	ENST00000322213.4	37	c.1444G>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	40	8.352244	0.98772	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	16.9938	0.86361	0.0:1.0:0.0:0.0	.	.	.	.	X	482;248	.	ENSP00000323421:E482X	E	-	1	0	SMC1A	53452819	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.758000	0.85224	2.362000	0.80069	0.600000	0.82982	GAG		0.562	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2		NM_006306		13	37	1	0	2.27111e-07	0.013537	2.40792e-07	13	37		
PHF8	23133	broad.mit.edu	37	X	54022189	54022189	+	Silent	SNP	G	G	A			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:54022189G>A	ENST00000357988.5	-	12	1726	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	PHF8_ENST00000338154.6_Silent_p.I420I|PHF8_ENST00000322659.8_Silent_p.I420I|PHF8_ENST00000338946.6_Silent_p.I420I	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	456					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTGTCTCCGGGATCTCATCCT	0.498																																						uc004dsu.2		NaN																	0				ovary(3)	3						c.(1366-1368)ATC>ATT		PHD finger protein 8							91.0	66.0	75.0					X																	54022189		2203	4300	6503	SO:0001819	synonymous_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54022189G>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1368C>T	X.37:g.54022189G>A						PHF8_uc004dst.2_Silent_p.I420I|PHF8_uc004dsv.2_Silent_p.I286I|PHF8_uc004dsw.2_Silent_p.I420I|PHF8_uc004dsx.2_Silent_p.I184I|PHF8_uc004dsy.2_Silent_p.I420I	p.I456I	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN			12	1441	-			456					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	c.1368C>T	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.970|9.970	1.225219|1.225219	0.22457|0.22457	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000443302|ENST00000396282;ENST00000448003	.|.	.|.	.|.	5.47|5.47	3.54|3.54	0.40534|0.40534	.|.	.|.	.|.	.|.	.|.	T|T	0.57301|0.57301	0.2044|0.2044	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49995|0.49995	-0.8879|-0.8879	4|4	.|.	.|.	.|.	-13.4373|-13.4373	7.5856|7.5856	0.27991|0.27991	0.3032:0.0:0.6968:0.0|0.3032:0.0:0.6968:0.0	.|.	.|.	.|.	.|.	S|F	184|324;101	.|.	.|.	P|S	-|-	1|2	0|0	PHF8|PHF8	54038914|54038914	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.541000|0.541000	0.23207|0.23207	0.397000|0.397000	0.25310|0.25310	0.468000|0.468000	0.43344|0.43344	CCC|TCC		0.498	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2		NM_015107		7	20	0	0	0	0.001984	0	7	20		
ZMYM3	9203	broad.mit.edu	37	X	70470474	70470474	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chrX:70470474G>C	ENST00000353904.2	-	5	1068	c.881C>G	c.(880-882)tCa>tGa	p.S294*	ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.S296*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.S296*|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373998.1_Nonsense_Mutation_p.S294*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.S294*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.S296*|ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.S294*	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	294					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGACACACTTGAGCGTAGGGA	0.587																																						uc004dzh.1		NaN																	0				ovary(1)	1						c.(880-882)TCA>TGA		zinc finger protein 261							46.0	35.0	39.0					X																	70470474		2203	4299	6502	SO:0001587	stop_gained	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70470474G>C	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.881C>G	X.37:g.70470474G>C	ENSP00000343909:p.Ser294*					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Nonsense_Mutation_p.S294*|ZMYM3_uc004dzj.1_Nonsense_Mutation_p.S294*|ZMYM3_uc011mpu.1_Nonsense_Mutation_p.S25*|ZMYM3_uc004dzk.3_Nonsense_Mutation_p.S294*|ZMYM3_uc004dzl.3_Nonsense_Mutation_p.S294*|ZMYM3_uc004dzm.3_Nonsense_Mutation_p.S294*	p.S294*	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			5	968	-	Renal(35;0.156)		294					D3DVV3|O15089|Q96E26	Nonsense_Mutation	SNP	ENST00000353904.2	37	c.881C>G	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	36	5.835224	0.97003	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981	.	.	.	4.9	3.99	0.46301	.	0.280054	0.24662	N	0.036624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.6392	8.6888	0.34254	0.0:0.1379:0.5832:0.2788	.	.	.	.	X	294;294;294;296;296;296;294	.	ENSP00000322845:S294X	S	-	2	0	ZMYM3	70387199	0.997000	0.39634	0.998000	0.56505	0.961000	0.63080	2.766000	0.47629	2.271000	0.75665	0.529000	0.55759	TCA		0.587	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1		NM_201599		5	15	0	0	0	0.014758	0	5	15		
TXNIP	10628	broad.mit.edu	37	1	145438899	145438900	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr1:145438899_145438900insT	ENST00000369317.4	+	1	431_432	c.97_98insT	c.(97-99)gtgfs	p.V33fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	33					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCGGGTGATAGTGGAGGTGTGT	0.515																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(97-99)GTGfs		thioredoxin interacting protein																																				SO:0001589	frameshift_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145438899_145438900insT	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.98dupT	1.37:g.145438900_145438900dupT	ENSP00000358323:p.Val33fs					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank	p.V33fs	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			1	438_439	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		33					B4E3D3|Q16226|Q6PML0|Q9BXG9	Frame_Shift_Ins	INS	ENST00000369317.4	37	c.97_98insT	CCDS913.1																																																																																				0.515	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		7	31	NaN	NaN	NaN	NaN	NaN	7	31	---	---
RAB3IL1	5866	broad.mit.edu	37	11	61675683	61675683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr11:61675683delG	ENST00000394836.2	-	2	264	c.107delC	c.(106-108)ccafs	p.P36fs	RAB3IL1_ENST00000301773.5_Frame_Shift_Del_p.P83fs	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	36					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CAGGGCTCCTGGGGACTCCCT	0.721																																						uc001nso.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(106-108)CCAfs		RAB3A interacting protein (rabin3)-like 1							6.0	7.0	7.0					11																	61675683		2143	4229	6372	SO:0001589	frameshift_variant	5866						protein binding	g.chr11:61675683delG	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.107delC	11.37:g.61675683delG	ENSP00000378313:p.Pro36fs					RAB3IL1_uc001nsp.2_Frame_Shift_Del_p.P83fs	p.P36fs	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN			2	265	-			36					Q86V32|Q9P1Q8	Frame_Shift_Del	DEL	ENST00000394836.2	37	c.107delC	CCDS8014.1																																																																																				0.721	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1		NM_013401		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
PAN2	9924	broad.mit.edu	37	12	56720730	56720730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr12:56720730delG	ENST00000425394.2	-	7	1309	c.933delC	c.(931-933)ttcfs	p.F311fs	PAN2_ENST00000548043.1_Frame_Shift_Del_p.F311fs|PAN2_ENST00000440411.3_Frame_Shift_Del_p.F311fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.F311fs	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TGGGTTCACAGAATTGGCACT	0.512																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(931-933)TTCfs		PAN2 polyA specific ribonuclease subunit homolog							44.0	46.0	45.0					12																	56720730		2203	4300	6503	SO:0001589	frameshift_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720730delG	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.933delC	12.37:g.56720730delG	ENSP00000401721:p.Phe311fs					PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Frame_Shift_Del_p.F311fs|PAN2_uc001sky.2_Frame_Shift_Del_p.F311fs	p.F311fs	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			7	1306	-			311						Frame_Shift_Del	DEL	ENST00000425394.2	37	c.933delC	CCDS44922.1																																																																																				0.512	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		17	44	NaN	NaN	NaN	NaN	NaN	17	44	---	---
MTIF3	219402	broad.mit.edu	37	13	28006890	28006890	+	IGR	DEL	A	A	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr13:28006890delA	ENST00000381116.1	-	0	1104				GTF3A_ENST00000470606.1_3'UTR|GTF3A_ENST00000381140.4_Frame_Shift_Del_p.K171fs|MTIF3_ENST00000461838.1_5'Flank			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		AGGATGTGGGAAACACTTTGC	0.532																																						uc001ure.2		NaN																	0					0						c.(511-513)AAAfs		transcription factor IIIA							67.0	59.0	61.0					13																	28006890		1568	3582	5150	SO:0001628	intergenic_variant	2971				regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr13:28006890delA	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28006890delA						GTF3A_uc001urf.2_Intron|GTF3A_uc001urg.2_RNA	p.K171fs	NM_002097	NP_002088	Q92664	TF3A_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)	5	705	+		Lung SC(185;0.0156)	171			C2H2-type 5.		Q05BL8|Q5W0V0|Q86X68	Frame_Shift_Del	DEL	ENST00000381116.1	37	c.511delA	CCDS9322.1																																																																																				0.532	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1		NM_152912		3	5	NaN	NaN	NaN	NaN	NaN	3	5	---	---
B3GNT2	10678	broad.mit.edu	37	2	62449660	62449673	+	Frame_Shift_Del	DEL	TCACGTCGGTGGTT	TCACGTCGGTGGTT	-	rs72893877	byFrequency	TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr2:62449660_62449673delTCACGTCGGTGGTT	ENST00000301998.4	+	2	557_570	c.305_318delTCACGTCGGTGGTT	c.(304-318)gtcacgtcggtggttfs	p.VTSVV102fs	B3GNT2_ENST00000405767.1_Frame_Shift_Del_p.VTSVV102fs	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	102					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GACCTGAGGGTCACGTCGGTGGTTACGGGTTTTA	0.5																																						uc002sbs.2		NaN																	0				ovary(1)	1						c.(304-318)GTCACGTCGGTGGTTfs		UDP-GlcNAc:betaGal																																				SO:0001589	frameshift_variant	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449660_62449673delTCACGTCGGTGGTT	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.305_318delTCACGTCGGTGGTT	2.37:g.62449660_62449673delTCACGTCGGTGGTT	ENSP00000305595:p.Val102fs						p.V102fs	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	543_556	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		102_106			Lumenal (Potential).		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Frame_Shift_Del	DEL	ENST00000301998.4	37	c.305_318delTCACGTCGGTGGTT	CCDS1870.1																																																																																				0.500	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2		NM_006577		21	332	NaN	NaN	NaN	NaN	NaN	21	332	---	---
CENPC	1060	broad.mit.edu	37	4	68358626	68358627	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr4:68358626_68358627insT	ENST00000273853.6	-	15	2629_2630	c.2379_2380insA	c.(2377-2382)aaatctfs	p.S794fs		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	794					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TTCTTATTAGATTTTTTGTTGA	0.297																																						uc003hdd.1		NaN																	0				urinary_tract(1)|lung(1)	2						c.(2377-2382)AAATCTfs		centromere protein C 1																																				SO:0001589	frameshift_variant	1060				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	g.chr4:68358626_68358627insT	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2380dupA	4.37:g.68358632_68358632dupT	ENSP00000273853:p.Ser794fs					CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihl.2_5'UTR	p.K793fs	NM_001812	NP_001803	Q03188	CENPC_HUMAN			15	2562_2563	-			793_794			Nuclear localization signal (Potential).		Q8IW27|Q9P0M5	Frame_Shift_Ins	INS	ENST00000273853.6	37	c.2379_2380insA	CCDS47063.1																																																																																				0.297	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2				2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
C5orf45	51149	broad.mit.edu	37	5	179264671	179264700	+	In_Frame_Del	DEL	TGAAGAGACCTTGGCTGCTCACTGTCCACA	TGAAGAGACCTTGGCTGCTCACTGTCCACA	-	rs61742526|rs200300835	byFrequency	TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr5:179264671_179264700delTGAAGAGACCTTGGCTGCTCACTGTCCACA	ENST00000292586.6	-	7	813_842	c.723_752delTGTGGACAGTGAGCAGCCAAGGTCTCTTCA	c.(721-753)catgtggacagtgagcagccaaggtctcttcag>cag	p.HVDSEQPRSL241del	SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000521333.1_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000523084.1_In_Frame_Del_p.HVDSEQPRSL107del|C5orf45_ENST00000376931.2_In_Frame_Del_p.HVDSEQPRSL186del|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518219.1_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	241								p.P247P(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTT	0.587																																						uc003mla.2		NaN																	1	Substitution - coding silent(1)		ovary(1)		0						c.(721-753)CATGTGGACAGTGAGCAGCCAAGGTCTCTTCAG>CAG		hypothetical protein LOC51149 isoform 1																																				SO:0001651	inframe_deletion	51149							g.chr5:179264671_179264700delTGAAGAGACCTTGGCTGCTCACTGTCCACA		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.723_752delTGTGGACAGTGAGCAGCCAAGGTCTCTTCA	5.37:g.179264671_179264700delTGAAGAGACCTTGGCTGCTCACTGTCCACA	ENSP00000292586:p.His241_Leu250del					SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_In_Frame_Del_p.HVDSEQPRSL186del|C5orf45_uc003mlb.2_In_Frame_Del_p.HVDSEQPRSL107del	p.HVDSEQPRSL241del	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN			7	767_796	-			241_250					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	In_Frame_Del	DEL	ENST00000292586.6	37	c.723_752delTGTGGACAGTGAGCAGCCAAGGTCTCTTCA	CCDS34319.1																																																																																				0.587	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2		NM_016175		7	28	NaN	NaN	NaN	NaN	NaN	7	28	---	---
SPTAN1	6709	broad.mit.edu	37	9	131367428	131367429	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-G2-A2EC-01A-11D-A17V-08	TCGA-G2-A2EC-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1376c881-cea5-4470-8dc1-63c69f201570	f76ab1a8-ac91-4fd9-9fd1-219ead6195ce	g.chr9:131367428_131367429delGA	ENST00000372731.4	+	30	3945_3946	c.3835_3836delGA	c.(3835-3837)gagfs	p.E1279fs	SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.E1279fs|SPTAN1_ENST00000372739.3_Frame_Shift_Del_p.E1279fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1279					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAGGGCTTCGAGAGGGACCTT	0.5																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(3835-3837)GAGfs		spectrin, alpha, non-erythrocytic 1																																				SO:0001589	frameshift_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131367428_131367429delGA	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3835_3836delGA	9.37:g.131367430_131367431delGA	ENSP00000361816:p.Glu1279fs					SPTAN1_uc011mbh.1_Frame_Shift_Del_p.E1291fs|SPTAN1_uc004bvm.3_Frame_Shift_Del_p.E1279fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.E1259fs	p.E1279fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			30	3948_3949	+			1279			Spectrin 14.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Del	DEL	ENST00000372731.4	37	c.3835_3836delGA	CCDS6905.1																																																																																				0.500	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		11	22	NaN	NaN	NaN	NaN	NaN	11	22	---	---
