#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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTCH2	8643	broad.mit.edu	37	1	45293750	45293750	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:45293750G>A	ENST00000372192.3	-	14	1953	c.1823C>T	c.(1822-1824)gCc>gTc	p.A608V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A608V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	608					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGCTGCTGGCTTCACAGTG	0.627									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1822-1824)gCc>gTc		patched 2							82.0	90.0	87.0					1																	45293750		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293750G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1823C>T	1.37:g.45293750G>A	ENSP00000361266:p.Ala608Val					PTCH2_ENST00000372192.3_Missense_Mutation_p.A608V	p.A608V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			14	1834	-	Acute lymphoblastic leukemia(166;0.155)		608					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1823C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440757	0.43326	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92545	-3.05;-3.06	4.76	3.82	0.43975	.	0.472269	0.17926	N	0.157347	D	0.86594	0.5970	N	0.19112	0.55	0.33470	D	0.586079	B;B	0.16396	0.006;0.017	B;B	0.26094	0.006;0.066	D	0.84484	0.0607	10	0.36615	T	0.2	-36.8093	14.7631	0.69619	0.0:0.1455:0.8545:0.0	.	608;608	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	V	608	ENSP00000389703:A608V;ENSP00000361266:A608V	ENSP00000361266:A608V	A	-	2	0	PTCH2	45066337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.001000	0.63946	0.937000	0.37394	0.557000	0.71058	GCC		0.627	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		16	172	16	172	---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160011538	160011538	+	Missense_Mutation	SNP	G	G	A	rs541734962		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:160011538G>A	ENST00000368089.3	-	2	1011	c.785C>T	c.(784-786)aCc>aTc	p.T262I	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	262					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	CAAGGGACTGGTCTCATCTAC	0.522																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(784-786)aCc>aTc		potassium inwardly-rectifying channel, subfamily J, member 10							116.0	115.0	115.0					1																	160011538		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011538G>A	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.785C>T	1.37:g.160011538G>A	ENSP00000357068:p.Thr262Ile					KCNJ10_ENST00000509700.1_Intron	p.T262I	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	1011	-	all_hematologic(112;0.093)		262					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.785C>T	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134815	0.37728	.	.	ENSG00000177807	ENST00000368089	D	0.91945	-2.94	5.3	4.36	0.52297	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.290238	0.37715	N	0.001969	D	0.83261	0.5216	L	0.41492	1.28	0.36603	D	0.874779	B	0.31625	0.332	B	0.33042	0.157	D	0.83578	0.0116	10	0.51188	T	0.08	.	12.8551	0.57880	0.0:0.0:0.8358:0.1641	.	262	P78508	IRK10_HUMAN	I	262	ENSP00000357068:T262I	ENSP00000357068:T262I	T	-	2	0	KCNJ10	158278162	0.088000	0.21588	1.000000	0.80357	0.974000	0.67602	0.371000	0.20450	1.424000	0.47217	0.655000	0.94253	ACC		0.522	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		5	111	5	111	---	---	---	---
CNST	163882	broad.mit.edu	37	1	246810985	246810985	+	Silent	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:246810985A>G	ENST00000366513.4	+	9	1751	c.1482A>G	c.(1480-1482)ggA>ggG	p.G494G	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.G494G	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	494					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACAGTGATGGAAAATCACCAC	0.473																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(1480-1482)ggA>ggG		consortin, connexin sorting protein							70.0	73.0	72.0					1																	246810985		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810985A>G	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1482A>G	1.37:g.246810985A>G						CNST_ENST00000366512.3_Silent_p.G494G|CNST_ENST00000483271.1_3'UTR	p.G494G	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			9	1751	+			494					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.1482A>G	CCDS1628.1																																																																																				0.473	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		8	78	8	78	---	---	---	---
CACNB4	785	broad.mit.edu	37	2	152732968	152732968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:152732968C>A	ENST00000539935.1	-	5	560	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000360283.6_Nonsense_Mutation_p.E131*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	165					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTTTTTGTTCTTGCTGGATC	0.408																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(391-393)Gaa>Taa		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						135.0	128.0	130.0					2																	152732968		1901	4127	6028	SO:0001587	stop_gained	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152732968C>A	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.493G>T	2.37:g.152732968C>A	ENSP00000438949:p.Glu165*					CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131*|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.E165*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*	p.E131*			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	4	648	-			165			SH3.		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Nonsense_Mutation	SNP	ENST00000539935.1	37	c.391G>T	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	36	5.784627	0.96937	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	.	.	.	5.63	5.63	0.86233	.	0.046855	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-21.2862	20.0499	0.97621	0.0:1.0:0.0:0.0	.	.	.	.	X	165;131;122;160;131;118;147;165;165	.	ENSP00000201943:E165X	E	-	1	0	CACNB4	152441214	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.754000	0.85163	2.798000	0.96311	0.655000	0.94253	GAA		0.408	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		10	16	10	16	---	---	---	---
SAG	6295	broad.mit.edu	37	2	234237163	234237163	+	Silent	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:234237163C>T	ENST00000409110.1	+	8	782	c.552C>T	c.(550-552)gcC>gcT	p.A184A	SAG_ENST00000449594.2_Silent_p.A50A	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	184					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TACAGCATGCCCCACTTGAGA	0.587																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(550-552)gcC>gcT		S-antigen; retina and pineal gland (arrestin)							158.0	144.0	148.0					2																	234237163		2012	4176	6188	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237163C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.552C>T	2.37:g.234237163C>T						SAG_ENST00000449594.2_Silent_p.A50A	p.A184A	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	782	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	184					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.552C>T	CCDS46545.1																																																																																				0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		7	140	7	140	---	---	---	---
IL17RC	84818	broad.mit.edu	37	3	9962224	9962224	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:9962224G>A	ENST00000295981.3	+	6	946	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q|RNU6-882P_ENST00000391025.1_RNA	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	243					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGTGAGGTACGAATCTGGTCC	0.592																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(727-729)cGa>cAa		interleukin 17 receptor C							79.0	65.0	70.0					3																	9962224		2203	4298	6501	SO:0001583	missense	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9962224G>A	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.728G>A	3.37:g.9962224G>A	ENSP00000295981:p.Arg243Gln					IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q	p.R243Q	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN			6	946	+			243					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	c.728G>A	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511914	0.12944	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.5	-4.92	0.03075	.	1.302160	0.05310	N	0.524692	T	0.07908	0.0198	N	0.10874	0.06	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.17465	0.012;0.021;0.003;0.003;0.022;0.022;0.005;0.008;0.021	B;B;B;B;B;B;B;B;B	0.14578	0.005;0.004;0.001;0.001;0.003;0.003;0.003;0.001;0.011	T	0.36237	-0.9756	10	0.28530	T	0.3	0.2378	13.3705	0.60711	0.6826:0.0:0.3174:0.0	.	172;43;172;172;172;172;172;243;172	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	Q	172;147;243;147;172;43;172;172	ENSP00000373323:R172Q;ENSP00000414609:R147Q;ENSP00000295981:R243Q;ENSP00000401128:R147Q;ENSP00000384969:R172Q;ENSP00000395315:R43Q;ENSP00000407894:R172Q;ENSP00000396064:R172Q	ENSP00000295981:R243Q	R	+	2	0	IL17RC	9937224	0.009000	0.17119	0.002000	0.10522	0.419000	0.31324	-0.765000	0.04730	-1.458000	0.01916	-0.244000	0.11960	CGA		0.592	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		6	28	6	28	---	---	---	---
SACM1L	22908	broad.mit.edu	37	3	45745007	45745007	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:45745007C>A	ENST00000389061.5	+	2	314	c.110C>A	c.(109-111)tCc>tAc	p.S37Y	SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	37					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GACCGTGTGTCCACAGAGGTT	0.353																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(109-111)tCc>tAc		SAC1 suppressor of actin mutations 1-like (yeast)							135.0	131.0	133.0					3																	45745007		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45745007C>A	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.110C>A	3.37:g.45745007C>A	ENSP00000373713:p.Ser37Tyr					SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T	p.S37Y	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	2	314	+			37					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.110C>A	CCDS33745.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.27|18.27	3.586607|3.586607	0.66105|0.66105	.|.	.|.	ENSG00000211456|ENSG00000211456	ENST00000438671;ENST00000541314|ENST00000389061	T|T	0.40476|0.47869	1.03|0.83	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71126|0.71126	0.3303|0.3303	M|M	0.81239|0.81239	2.535|2.535	0.37153|0.37153	D|D	0.902221|0.902221	B|D	0.20780|0.65815	0.048|0.995	B|D	0.27500|0.68765	0.08|0.96	T|T	0.77648|0.77648	-0.2509|-0.2509	9|10	0.87932|0.59425	D|D	0|0.04	-11.5372|-11.5372	19.0448|19.0448	0.93015|0.93015	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	19|37	B4DK71|Q9NTJ5	.|SAC1_HUMAN	T|Y	19|37	ENSP00000443373:P19T|ENSP00000373713:S37Y	ENSP00000411966:P19T|ENSP00000373713:S37Y	P|S	+|+	1|2	0|0	SACM1L|SACM1L	45720011|45720011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.097000|7.097000	0.76967|0.76967	2.495000|2.495000	0.84180|0.84180	0.591000|0.591000	0.81541|0.81541	CCA|TCC		0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		36	71	36	71	---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56762964	56762964	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr4:56762964G>C	ENST00000381295.2	+	16	2383	c.2035G>C	c.(2035-2037)Gaa>Caa	p.E679Q	EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	679					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGCTGAATTTGAAGAATTTGC	0.368																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2035-2037)Gaa>Caa		exocyst complex component 1							77.0	75.0	76.0					4																	56762964		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56762964G>C	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2035G>C	4.37:g.56762964G>C	ENSP00000370695:p.Glu679Gln					EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q|EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q	p.E679Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			16	2383	+	Glioma(25;0.08)|all_neural(26;0.101)		679					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2035G>C	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966026	0.92855	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.83092	0.5179	M	0.79258	2.445	0.80722	D	1	D;P	0.89917	1.0;0.909	D;P	0.83275	0.996;0.688	T	0.82422	-0.0465	9	0.48119	T	0.1	.	20.0137	0.97470	0.0:0.0:1.0:0.0	.	664;679	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Q	679;679;664	.	ENSP00000326514:E679Q	E	+	1	0	EXOC1	56457721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.734000	0.93682	0.563000	0.77884	GAA		0.368	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		3	63	3	63	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37017250	37017250	+	Missense_Mutation	SNP	C	C	G	rs149451089		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:37017250C>G	ENST00000282516.8	+	24	5405	c.4906C>G	c.(4906-4908)Cgc>Ggc	p.R1636G	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1636					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTATAGAACGCATTTTAAA	0.333																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(4906-4908)Cgc>Ggc		Nipped-B homolog (Drosophila)							51.0	50.0	50.0					5																	37017250		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37017250C>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4906C>G	5.37:g.37017250C>G	ENSP00000282516:p.Arg1636Gly					NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G	p.R1636G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		24	5405	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1636					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.4906C>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.510051	0.64522	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.65178	-0.14;-0.14	5.45	2.59	0.31030	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	M	0.71581	2.175	0.50632	D	0.999882	P;P	0.51147	0.903;0.942	P;P	0.54210	0.561;0.745	T	0.67465	-0.5664	10	0.25106	T	0.35	.	15.1455	0.72647	0.5027:0.4973:0.0:0.0	.	1636;1636	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	G	1636	ENSP00000282516:R1636G;ENSP00000406266:R1636G	ENSP00000282516:R1636G	R	+	1	0	NIPBL	37053007	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.809000	0.55606	0.309000	0.22966	0.585000	0.79938	CGC		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		8	34	8	34	---	---	---	---
NSA2	10412	broad.mit.edu	37	5	74069862	74069862	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:74069862C>T	ENST00000296802.5	+	5	1061	c.692C>T	c.(691-693)aCa>aTa	p.T231I		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	231					rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GGCCTTGTGACACAAGGAGGC	0.383																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(691-693)aCa>aTa		NSA2 ribosome biogenesis homolog (S. cerevisiae)							99.0	94.0	96.0					5																	74069862		2203	4300	6503	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74069862C>T	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.692C>T	5.37:g.74069862C>T	ENSP00000296802:p.Thr231Ile						p.T231I	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN			5	1061	+			231						Missense_Mutation	SNP	ENST00000296802.5	37	c.692C>T	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183491	0.78677	.	.	ENSG00000164346	ENST00000296802	T	0.52526	0.66	5.32	5.32	0.75619	.	0.044878	0.85682	D	0.000000	T	0.77336	0.4115	M	0.93241	3.395	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.83584	0.0119	10	0.87932	D	0	.	19.3811	0.94536	0.0:1.0:0.0:0.0	.	231	O95478	NSA2_HUMAN	I	231	ENSP00000296802:T231I	ENSP00000296802:T231I	T	+	2	0	NSA2	74105618	1.000000	0.71417	0.998000	0.56505	0.580000	0.36256	7.388000	0.79795	2.645000	0.89757	0.650000	0.86243	ACA		0.383	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		10	148	10	148	---	---	---	---
AKAP12	9590	broad.mit.edu	37	6	151672836	151672836	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:151672836G>C	ENST00000253332.1	+	3	3499	c.3310G>C	c.(3310-3312)Gag>Cag	p.E1104Q	AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q|AKAP12_ENST00000402676.2_Missense_Mutation_p.E1104Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1104					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGCAAAAACTGAGCCTTTTAC	0.502																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3310-3312)Gag>Cag		A kinase (PRKA) anchor protein 12							46.0	47.0	47.0					6																	151672836		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672836G>C	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3310G>C	6.37:g.151672836G>C	ENSP00000253332:p.Glu1104Gln					AKAP12_ENST00000253332.1_Missense_Mutation_p.E1104Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q	p.E1104Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3550	+		Ovarian(120;0.125)	1104					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3310G>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302634	0.60195	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08807	3.05;3.05;3.07;3.07	5.06	5.06	0.68205	.	0.229628	0.22993	N	0.053165	T	0.07188	0.0182	L	0.36672	1.1	0.09310	N	0.999994	D;D;D	0.63880	0.993;0.993;0.988	P;P;P	0.57776	0.827;0.827;0.676	T	0.16512	-1.0400	10	0.45353	T	0.12	.	10.1311	0.42680	0.129:0.0:0.8709:0.0	.	999;1006;1104	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	Q	1104;1104;1006;999	ENSP00000384537:E1104Q;ENSP00000253332:E1104Q;ENSP00000346702:E1006Q;ENSP00000352794:E999Q	ENSP00000253332:E1104Q	E	+	1	0	AKAP12	151714529	0.015000	0.18098	0.015000	0.15790	0.029000	0.11900	1.649000	0.37281	2.356000	0.79943	0.455000	0.32223	GAG		0.502	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			3	51	3	51	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95549369	95549369	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:95549369C>G	ENST00000297591.5	-	4	352	c.277G>C	c.(277-279)Gat>Cat	p.D93H	RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTATTCTCATCATATTCCAGG	0.333																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(277-279)Gat>Cat		KIAA1429							106.0	103.0	104.0					8																	95549369		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95549369C>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.277G>C	8.37:g.95549369C>G	ENSP00000297591:p.Asp93His					KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H	p.D93H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		4	352	-	Breast(36;3.29e-05)		93					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.277G>C	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170322	0.78452	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.46819	0.87;0.86;0.86	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.64015	-0.6506	10	0.52906	T	0.07	-17.5006	18.5965	0.91231	0.0:1.0:0.0:0.0	.	93;93	Q69YN4-4;Q69YN4	.;VIR_HUMAN	H	93	ENSP00000297591:D93H;ENSP00000395600:D93H;ENSP00000398390:D93H	ENSP00000297591:D93H	D	-	1	0	KIAA1429	95618545	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.400000	0.79949	2.387000	0.81309	0.467000	0.42956	GAT		0.333	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		4	145	4	145	---	---	---	---
PLCZ1	89869	broad.mit.edu	37	12	18872504	18872504	+	Missense_Mutation	SNP	G	G	C	rs140550681		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:18872504G>C	ENST00000266505.7	-	5	693	c.430C>G	c.(430-432)Cta>Gta	p.L144V	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L142V|RP11-361I14.2_ENST00000536931.1_RNA					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTAAACAGTAGACATTCACGT	0.264																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(430-432)Cta>Gta		phospholipase C, zeta 1							52.0	53.0	52.0					12																	18872504		2202	4282	6484	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18872504G>C	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.430C>G	12.37:g.18872504G>C	ENSP00000266505:p.Leu144Val					PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|PLCZ1_ENST00000435379.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L142V	p.L144V			Q86YW0	PLCZ1_HUMAN			5	693	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		144						Missense_Mutation	SNP	ENST00000266505.7	37	c.430C>G	CCDS8680.1	.	.	.	.	.	.	.	.	.	.	G	2.456	-0.325151	0.05350	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000541695;ENST00000541966	T;T;T;T	0.27402	2.3;2.3;1.67;2.3	5.28	4.3	0.51218	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.563717	0.18609	N	0.136210	T	0.28732	0.0712	M	0.76574	2.34	0.09310	N	1	P	0.41498	0.752	B	0.42462	0.388	T	0.25082	-1.0142	10	0.17832	T	0.49	.	0.2114	0.00156	0.2431:0.2396:0.2746:0.2427	.	144	Q86YW0	PLCZ1_HUMAN	V	144;142;7;40	ENSP00000266505:L144V;ENSP00000402358:L142V;ENSP00000443349:L7V;ENSP00000444383:L40V	ENSP00000266505:L144V	L	-	1	2	PLCZ1	18763771	0.002000	0.14202	0.501000	0.27601	0.073000	0.16967	0.722000	0.25925	1.131000	0.42111	0.591000	0.81541	CTA		0.264	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401667.3	NM_033123		16	40	16	40	---	---	---	---
CALCOCO1	57658	broad.mit.edu	37	12	54118947	54118947	+	Missense_Mutation	SNP	T	T	C	rs535194693		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:54118947T>C	ENST00000550804.1	-	2	140	c.80A>G	c.(79-81)aAc>aGc	p.N27S	CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.N27S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	27	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.|p300 KIX-binding. {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.N27S(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGGTGTTGGGGATGTA	0.542																																						ENST00000548263.1																			1	Substitution - Missense(1)	p.N27S(1)	ovary(1)	NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(79-81)aAc>aGc		calcium binding and coiled-coil domain 1							205.0	159.0	174.0					12																	54118947		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54118947T>C	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.80A>G	12.37:g.54118947T>C	ENSP00000449960:p.Asn27Ser					CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.N27S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S	p.N27S			Q9P1Z2	CACO1_HUMAN			2	128	-			27			N-terminal AD (CTNNB1 binding site) (By similarity).|p300 KIX-binding (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.80A>G	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150445	0.78001	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623;ENST00000549349;ENST00000549688;ENST00000547885;ENST00000548431	T;T;T;T;T;T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78;2.78	4.86	4.86	0.63082	.	0.000000	0.49305	D	0.000158	T	0.17238	0.0414	L	0.38175	1.15	0.35200	D	0.774219	D;P;P;P;P	0.56746	0.977;0.568;0.943;0.512;0.954	P;B;P;B;P	0.54759	0.76;0.237;0.496;0.152;0.63	T	0.11518	-1.0584	10	0.41790	T	0.15	-23.7115	13.8751	0.63648	0.0:0.0:0.0:1.0	.	27;27;27;27;27	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;.;CACO1_HUMAN	S	27	ENSP00000397189:N27S;ENSP00000262059:N27S;ENSP00000447647:N27S;ENSP00000449960:N27S;ENSP00000450083:N27S;ENSP00000448621:N27S;ENSP00000447117:N27S;ENSP00000449058:N27S;ENSP00000446820:N27S;ENSP00000448026:N27S;ENSP00000450012:N27S;ENSP00000449796:N27S	ENSP00000262059:N27S	N	-	2	0	CALCOCO1	52405214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.578000	0.53892	2.188000	0.69820	0.533000	0.62120	AAC		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		13	83	13	83	---	---	---	---
CYP27B1	1594	broad.mit.edu	37	12	58159257	58159257	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:58159257G>A	ENST00000228606.4	-	3	621	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	CYP27B1_ENST00000546496.1_5'UTR	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	138					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	AGGAGACTGCGGAGCCTTTGC	0.672											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000228606.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.(412-414)Cgc>Tgc		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						31.0	34.0	33.0					12																	58159257		2200	4292	6492	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58159257G>A	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.412C>T	12.37:g.58159257G>A	ENSP00000228606:p.Arg138Cys		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	CYP27B1_ENST00000546496.1_5'UTR	p.R138C	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		3	621	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		138					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.412C>T	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641353	0.87859	.	.	ENSG00000111012	ENST00000228606	D	0.85955	-2.05	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93671	0.6990	10	0.87932	D	0	.	17.3428	0.87301	0.0:0.0:1.0:0.0	.	138	O15528	CP27B_HUMAN	C	138	ENSP00000228606:R138C	ENSP00000228606:R138C	R	-	1	0	CYP27B1	56445524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.158000	0.77470	2.625000	0.88918	0.561000	0.74099	CGC		0.672	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		9	14	9	14	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100452768	100452768	+	Silent	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:100452768A>G	ENST00000279907.7	-	14	2499	c.2287T>C	c.(2287-2289)Ttg>Ctg	p.L763L	UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	763										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTCCGCTTCAATCGGCCAGCC	0.408																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2287-2289)Ttg>Ctg		UHRF1 binding protein 1-like							93.0	99.0	97.0					12																	100452768		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100452768A>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2287T>C	12.37:g.100452768A>G						UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	p.L763L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2499	-			763					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.2287T>C	CCDS31882.1																																																																																				0.408	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		49	127	49	127	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102072013	102072013	+	Silent	SNP	T	T	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:102072013T>A	ENST00000550270.1	+	27	3222	c.3222T>A	c.(3220-3222)ccT>ccA	p.P1074P	MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000452455.2_Silent_p.P1074P|MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000549145.1_Silent_p.P1087P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000547405.1_Silent_p.P1030P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000553190.1_Silent_p.P1056P			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1074	Ig-like C2-type 7.				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						GAGGAAATCCTAAGGTACCAT	0.398																																						ENST00000549145.1																			0				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						c.(3259-3261)ccT>ccA		myosin binding protein C, slow type							189.0	163.0	172.0					12																	102072013		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.chr12:102072013T>A		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.3222T>A	12.37:g.102072013T>A						MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000550270.1_Silent_p.P1074P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000547405.1_Silent_p.P1030P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000452455.2_Silent_p.P1074P	p.P1087P			Q00872	MYPC1_HUMAN			28	3361	+			1074			Ig-like C2-type 7.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.3261T>A	CCDS9085.1																																																																																				0.398	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			53	124	53	124	---	---	---	---
SERPINE3	647174	broad.mit.edu	37	13	51918393	51918393	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr13:51918393A>G	ENST00000521255.1	+	2	322	c.262A>G	c.(262-264)Agg>Ggg	p.R88G	SERPINE3_ENST00000524365.1_Missense_Mutation_p.R88G|SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	88					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CACAGACAAAAGGGTGAAAGA	0.488																																						ENST00000524365.1																			0				ovary(2)	2						c.(262-264)Agg>Ggg		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3							60.0	61.0	61.0					13																	51918393		2034	4184	6218	SO:0001583	missense	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51918393A>G	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.262A>G	13.37:g.51918393A>G	ENSP00000428316:p.Arg88Gly					SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G|SERPINE3_ENST00000521255.1_Missense_Mutation_p.R88G	p.R88G			A8MV23	SERP3_HUMAN			5	887	+			88					B1V8P3	Missense_Mutation	SNP	ENST00000521255.1	37	c.262A>G	CCDS53870.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212422	0.58452	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	D;D;D	0.84442	-1.85;-1.85;-1.85	5.02	2.41	0.29592	Serpin domain (3);	.	.	.	.	T	0.80444	0.4624	L	0.38953	1.18	0.09310	N	1	P;P	0.44521	0.622;0.837	B;B	0.43331	0.217;0.416	T	0.70425	-0.4875	9	0.59425	D	0.04	.	11.3728	0.49711	0.7133:0.2867:0.0:0.0	.	88;88	A8MV23-2;A8MV23	.;SERP3_HUMAN	G	88	ENSP00000430755:R88G;ENSP00000428316:R88G;ENSP00000441468:R88G	ENSP00000441468:R88G	R	+	1	2	SERPINE3	50816394	0.002000	0.14202	0.003000	0.11579	0.949000	0.60115	1.859000	0.39418	0.924000	0.37069	0.533000	0.62120	AGG		0.488	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		3	40	3	40	---	---	---	---
POTEM	641455	broad.mit.edu	37	14	20019998	20019998	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:20019998T>C	ENST00000551509.1	-	1	274	c.223A>G	c.(223-225)Agc>Ggc	p.S75G		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	75										endometrium(4)|kidney(1)|lung(4)	9						CTCTTGCCGCTCCCCCTGCAC	0.587																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(223-225)Agc>Ggc		POTE ankyrin domain family, member M							11.0	21.0	19.0					14																	20019998		316	1135	1451	SO:0001583	missense	641455							g.chr14:20019998T>C		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.223A>G	14.37:g.20019998T>C	ENSP00000452296:p.Ser75Gly						p.S75G	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	274	-			75						Missense_Mutation	SNP	ENST00000551509.1	37	c.223A>G	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	t	3.158	-0.172651	0.06421	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.33438	1.41	.	.	.	.	.	.	.	.	T	0.25606	0.0623	L	0.61218	1.895	0.09310	N	1	B	0.27791	0.189	B	0.29785	0.107	T	0.28459	-1.0043	6	.	.	.	.	.	.	.	.	75	A6NI47	POTEM_HUMAN	G	75	ENSP00000452296:S75G	.	S	-	1	0	POTEM	19089998	0.001000	0.12720	0.005000	0.12908	0.137000	0.21094	0.985000	0.29578	-0.760000	0.04677	0.128000	0.15822	AGC		0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		5	382	5	382	---	---	---	---
THTPA	79178	broad.mit.edu	37	14	24026160	24026160	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:24026160A>G	ENST00000288014.6	+	1	930	c.194A>G	c.(193-195)aAa>aGa	p.K65R	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000404535.3_Missense_Mutation_p.K65R			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	65	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		TGGGAGCTCAAATGTCCTGGA	0.572																																						ENST00000288014.6																			0				large_intestine(1)|prostate(2)	3						c.(193-195)aAa>aGa		thiamine triphosphatase	Thiamine(DB00152)						78.0	64.0	69.0					14																	24026160		2203	4300	6503	SO:0001583	missense	79178				dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	g.chr14:24026160A>G	AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.194A>G	14.37:g.24026160A>G	ENSP00000288014:p.Lys65Arg					RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R|THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R	p.K65R			Q9BU02	THTPA_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	930	+	all_cancers(95;0.000251)		65					D3DS50|G3V4J3	Missense_Mutation	SNP	ENST00000288014.6	37	c.194A>G	CCDS32053.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440092	0.83993	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.91	4.75	0.60458	CYTH domain (2);CYTH-like domain (1);	0.044969	0.85682	D	0.000000	T	0.75213	0.3819	M	0.91249	3.19	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.68353	0.943;0.957	T	0.78807	-0.2059	10	0.62326	D	0.03	-15.56	10.7037	0.45942	0.8571:0.0:0.0:0.1429	.	65;65	G3V4J3;Q9BU02	.;THTPA_HUMAN	R	65	ENSP00000384580:K65R;ENSP00000288014:K65R;ENSP00000452281:K65R;ENSP00000451835:K65R;ENSP00000452465:K65R;ENSP00000450459:K65R	ENSP00000288014:K65R	K	+	2	0	THTPA	23096000	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.474000	0.73578	1.033000	0.39918	-0.336000	0.08194	AAA		0.572	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413800.2			15	27	15	27	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64604565	64604565	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:64604565A>C	ENST00000344113.4	+	79	14919	c.14707A>C	c.(14707-14709)Aaa>Caa	p.K4903Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.K1288Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4903					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)		GAACGAAGGCAAACAGTTGGT	0.408																																						ENST00000357395.3																			0				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						c.(3862-3864)Aaa>Caa		spectrin repeat containing, nuclear envelope 2							99.0	92.0	94.0					14																	64604565		2203	4300	6503	SO:0001583	missense	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.chr14:64604565A>C	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.14707A>C	14.37:g.64604565A>C	ENSP00000341781:p.Lys4903Gln					ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.K4903Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q	p.K1288Q			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	80	15006	+			4903					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3862A>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973678	0.53720	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.87	5.87	0.94306	.	0.205334	0.33127	N	0.005259	T	0.48978	0.1530	M	0.72118	2.19	0.80722	D	1	P;P;D	0.58268	0.802;0.534;0.982	P;B;P	0.56042	0.511;0.238;0.79	T	0.41998	-0.9477	10	0.33141	T	0.24	.	16.2676	0.82597	1.0:0.0:0.0:0.0	.	1288;4903;4903	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	Q	4903;1288;4903;4820;4820;1537;1288	ENSP00000350719:K4903Q;ENSP00000349969:K1288Q;ENSP00000341781:K4903Q;ENSP00000452570:K4820Q;ENSP00000450831:K1537Q;ENSP00000378249:K1288Q	ENSP00000261678:K4820Q	K	+	1	0	SYNE2	63674318	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.596000	0.90844	2.243000	0.73865	0.533000	0.62120	AAA		0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		28	74	28	74	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70959376	70959376	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr15:70959376T>C	ENST00000322954.6	-	16	3832	c.3647A>G	c.(3646-3648)aAa>aGa	p.K1216R	UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R|UACA_ENST00000560441.1_Missense_Mutation_p.K1201R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1216					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCTAATTTTTTTAATGCTTG	0.338																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3646-3648)aAa>aGa		uveal autoantigen with coiled-coil domains and ankyrin repeats							98.0	96.0	97.0					15																	70959376		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959376T>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3647A>G	15.37:g.70959376T>C	ENSP00000314556:p.Lys1216Arg					UACA_ENST00000560441.1_Missense_Mutation_p.K1201R|UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R	p.K1216R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3832	-			1216					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3647A>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765793	0.31228	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.35789	1.29;1.31;1.78	5.66	3.36	0.38483	.	0.177952	0.39341	N	0.001395	T	0.29491	0.0735	M	0.62723	1.935	0.09310	N	1	B;B;B;P	0.41232	0.005;0.012;0.021;0.743	B;B;B;B	0.38755	0.023;0.01;0.01;0.281	T	0.13872	-1.0493	10	0.23302	T	0.38	-15.2074	4.8805	0.13677	0.0:0.2393:0.1632:0.5975	.	1107;1216;1216;1203	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	R	1216;1203;1107	ENSP00000314556:K1216R;ENSP00000369319:K1203R;ENSP00000438667:K1107R	ENSP00000314556:K1216R	K	-	2	0	UACA	68746430	0.186000	0.23225	0.007000	0.13788	0.919000	0.55068	1.410000	0.34691	0.430000	0.26230	0.533000	0.62120	AAA		0.338	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			18	61	18	61	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963805	27963805	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:27963805G>T	ENST00000269033.3	-	14	1513	c.1362C>A	c.(1360-1362)aaC>aaA	p.N454K	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.5_ENST00000581240.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.N481K	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	454					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCATAGTTTGTTATGCCGCT	0.448																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1360-1362)aaC>aaA		slingshot protein phosphatase 2							206.0	186.0	193.0					17																	27963805		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963805G>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1362C>A	17.37:g.27963805G>T	ENSP00000269033:p.Asn454Lys					SSH2_ENST00000540801.1_Missense_Mutation_p.N481K|RP11-68I3.2_ENST00000581474.1_RNA	p.N454K	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN			14	1513	-			454					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1362C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402368	0.62288	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.43294	0.95;0.95	6.16	1.5	0.22942	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	M	0.66939	2.045	0.80722	D	1	P;P	0.49307	0.843;0.922	P;P	0.53988	0.715;0.739	T	0.58064	-0.7702	10	0.87932	D	0	-21.5391	12.2589	0.54638	0.2651:0.0:0.7349:0.0	.	481;454	F5H527;Q76I76	.;SSH2_HUMAN	K	454;481	ENSP00000269033:N454K;ENSP00000444743:N481K	ENSP00000269033:N454K	N	-	3	2	SSH2	24987931	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.903000	0.39858	0.489000	0.27749	0.650000	0.86243	AAC		0.448	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		12	142	12	142	---	---	---	---
ERBB2	2064	broad.mit.edu	37	17	37881014	37881014	+	Silent	SNP	T	T	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:37881014T>C	ENST00000269571.5	+	20	2502	c.2343T>C	c.(2341-2343)taT>taC	p.Y781Y	ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000445658.2_Silent_p.Y505Y|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000406381.2_Silent_p.Y751Y|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GCTCCCCATATGTCTCCCGCC	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2251-2253)taT>taC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						90.0	87.0	88.0					17																	37881014		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881014T>C	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2343T>C	17.37:g.37881014T>C		TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000269571.5_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y	p.Y751Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	22	2763	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	781			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.2253T>C	CCDS32642.1																																																																																				0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			27	65	27	65	---	---	---	---
POTEC	388468	broad.mit.edu	37	18	14542963	14542963	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr18:14542963C>T	ENST00000358970.5	-	1	182	c.183G>A	c.(181-183)atG>atA	p.M61I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	61										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AACACTTGCCCATCTTGCTCC	0.577																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(181-183)atG>atA		POTE ankyrin domain family, member C							67.0	74.0	72.0					18																	14542963		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542963C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.183G>A	18.37:g.14542963C>T	ENSP00000351856:p.Met61Ile					POTEC_ENST00000389891.4_5'UTR	p.M61I	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	182	-			61						Missense_Mutation	SNP	ENST00000358970.5	37	c.183G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616678	0.28801	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.31510	1.49	0.448	0.448	0.16614	.	.	.	.	.	T	0.33381	0.0861	L	0.46157	1.445	0.09310	N	1	P	0.41159	0.74	P	0.48425	0.577	T	0.22695	-1.0209	8	0.66056	D	0.02	.	.	.	.	.	61	B2RU33	POTEC_HUMAN	I	61	ENSP00000351856:M61I	ENSP00000351856:M61I	M	-	3	0	POTEC	14532963	0.009000	0.17119	0.006000	0.13384	0.029000	0.11900	-0.070000	0.11523	0.479000	0.27511	0.186000	0.17326	ATG		0.577	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		36	316	36	316	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10468472	10468472	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:10468472C>A	ENST00000525621.1	-	17	2915	c.2434G>T	c.(2434-2436)Gag>Tag	p.E812*	TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	812	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGGGGCCTCTCCGTCAAAG	0.642																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2434-2436)Gag>Tag		tyrosine kinase 2							29.0	28.0	28.0					19																	10468472		2202	4300	6502	SO:0001587	stop_gained	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10468472C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2434G>T	19.37:g.10468472C>A	ENSP00000431885:p.Glu812*					TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*	p.E812*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		17	2915	-			812			Protein kinase 1.		Q6QB10|Q96CH0	Nonsense_Mutation	SNP	ENST00000525621.1	37	c.2434G>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	40	8.325824	0.98762	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	.	.	.	4.86	4.86	0.63082	.	0.000000	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-25.1044	15.5125	0.75795	0.0:1.0:0.0:0.0	.	.	.	.	X	627;812;812;559;812	.	ENSP00000264818:E812X	E	-	1	0	TYK2	10329472	1.000000	0.71417	0.944000	0.38274	0.026000	0.11368	5.521000	0.67086	2.521000	0.84997	0.655000	0.94253	GAG		0.642	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			10	21	10	21	---	---	---	---
LRFN3	79414	broad.mit.edu	37	19	36431457	36431457	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:36431457C>G	ENST00000588831.1	+	3	2184	c.1130C>G	c.(1129-1131)gCt>gGt	p.A377G	LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	377	Ig-like.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGCCACAGCTGCTGTGGAG	0.662																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1129-1131)gCt>gGt		leucine rich repeat and fibronectin type III domain containing 3							31.0	28.0	29.0					19																	36431457		2203	4299	6502	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431457C>G	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1130C>G	19.37:g.36431457C>G	ENSP00000466989:p.Ala377Gly					LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G	p.A377G			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	2184	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		377			Ig-like.		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.1130C>G	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767718	0.69878	.	.	ENSG00000126243	ENST00000246529	T	0.69806	-0.43	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36234	N	0.002701	T	0.73513	0.3596	M	0.67700	2.07	0.51482	D	0.999929	B	0.28584	0.216	B	0.42771	0.397	T	0.73414	-0.3990	10	0.45353	T	0.12	.	15.791	0.78364	0.0:1.0:0.0:0.0	.	377	Q9BTN0	LRFN3_HUMAN	G	377	ENSP00000246529:A377G	ENSP00000246529:A377G	A	+	2	0	LRFN3	41123297	0.992000	0.36948	0.930000	0.37139	0.940000	0.58332	3.187000	0.50950	2.320000	0.78422	0.591000	0.81541	GCT		0.662	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		8	29	8	29	---	---	---	---
TSSK2	23617	broad.mit.edu	37	22	19119476	19119476	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:19119476G>C	ENST00000399635.2	+	1	1156	c.564G>C	c.(562-564)caG>caC	p.Q188H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGGTGCTGCAGAGCATCCCCT	0.602																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(562-564)caG>caC		testis-specific serine kinase 2							85.0	87.0	86.0					22																	19119476		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119476G>C	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.564G>C	22.37:g.19119476G>C	ENSP00000382544:p.Gln188His					DGCR14_ENST00000252137.6_3'UTR	p.Q188H	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1156	+	Colorectal(54;0.0993)		188			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.564G>C	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795978	0.50208	.	.	ENSG00000206203	ENST00000399635	T	0.66815	-0.23	5.34	4.32	0.51571	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000231	T	0.68192	0.2974	L	0.31294	0.92	0.28323	N	0.922162	D	0.62365	0.991	D	0.69654	0.965	T	0.61978	-0.6951	10	0.72032	D	0.01	.	7.3191	0.26517	0.2568:0.0:0.7432:0.0	.	188	Q96PF2	TSSK2_HUMAN	H	188	ENSP00000382544:Q188H	ENSP00000382544:Q188H	Q	+	3	2	TSSK2	17499476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.782000	0.26788	1.239000	0.43787	0.655000	0.94253	CAG		0.602	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			34	96	34	96	---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24460518	24460518	+	Silent	SNP	G	G	A			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:24460518G>A	ENST00000398319.2	+	15	2290	c.1905G>A	c.(1903-1905)ctG>ctA	p.L635L	CABIN1_ENST00000405822.2_Silent_p.L585L|CABIN1_ENST00000263119.5_Silent_p.L635L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	635					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAGGCCCTGGAGAACTATG	0.532																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1903-1905)ctG>ctA		calcineurin binding protein 1							225.0	214.0	218.0					22																	24460518		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24460518G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1905G>A	22.37:g.24460518G>A						CABIN1_ENST00000405822.2_Silent_p.L585L|CABIN1_ENST00000263119.5_Silent_p.L635L	p.L635L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			15	2290	+			635					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.1905G>A	CCDS13823.1																																																																																				0.532	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		9	329	9	329	---	---	---	---
KRT18	3875	broad.mit.edu	37	12	53344130	53344156	+	In_Frame_Del	DEL	GACAATGCCCGCATCGTTCTGCAGATT	GACAATGCCCGCATCGTTCTGCAGATT	-	rs59979366|rs200694483|rs370728079	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT	ENST00000388835.3	+	2	646_672	c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	c.(436-462)gacaatgcccgcatcgttctgcagattdel	p.DNARIVLQI146del	KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000550600.1_In_Frame_Del_p.DNARIVLQI146del|KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	146	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAATACTGTGGACAATGCCCGCATCGTTCTGCAGATTGACAATGCCC	0.498																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11	GRCh37	CM057881	KRT18	M	rs59979366	c.(436-462)gacaatgcccgcatcgttctgcagattdel		keratin 18																																				SO:0001651	inframe_deletion	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	12.37:g.53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT	ENSP00000373487:p.Asp146_Ile154del					KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del|KRT18_ENST00000388835.3_In_Frame_Del_p.DNARIVLQI146del	p.DNARIVLQI146del			P05783	K1C18_HUMAN			3	490_516	+			146			Coil 1B.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	In_Frame_Del	DEL	ENST00000388835.3	37	c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	CCDS31809.1																																																																																				0.498	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		7	759	7	759	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153072793	153072793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrX:153072793delC	ENST00000164640.4	-	3	519	c.328delG	c.(328-330)gcgfs	p.A110fs	PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	110						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATAAACTCCGCCGGGTCATAA	0.667																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(328-330)gcgfs		PDZ domain containing 4							25.0	24.0	24.0					X																	153072793		2200	4296	6496	SO:0001589	frameshift_variant	57595					cell cortex		g.chrX:153072793delC	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.328delG	X.37:g.153072793delC	ENSP00000164640:p.Ala110fs					PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000475140.1_5'UTR	p.A110fs	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			3	519	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		110					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Frame_Shift_Del	DEL	ENST00000164640.4	37	c.328delG	CCDS14732.1																																																																																				0.667	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		9	18	9	18	---	---	---	---
