#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
FBLIM1	54751	broad.mit.edu	37	1	16093947	16093947	+	Silent	SNP	G	G	A	rs138682032		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:16093947G>A	ENST00000375766.3	+	4	967	c.327G>A	c.(325-327)ccG>ccA	p.P109P	FBLIM1_ENST00000375771.1_Silent_p.P109P|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Silent_p.P109P|FBLIM1_ENST00000332305.5_Intron	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	109	Pro-rich.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCCCTCCACCGCCCCCTCCAG	0.657																																						uc001axd.1																			0				skin(1)	1						c.(325-327)CCG>CCA		filamin-binding LIM protein-1 isoform a		A	,,	1,4405		0,1,2202	20.0	19.0	20.0		327,,327	-9.9	0.1	1	dbSNP_134	20	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous	FBLIM1	NM_001024215.1,NM_001024216.1,NM_017556.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	109/375,,109/374	16093947	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16093947G>A		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.327G>A	1.37:g.16093947G>A						FBLIM1_uc001axe.1_Silent_p.P109P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.P109P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	p.P109P	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	5	770	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	109			Pro-rich.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	ENST00000375766.3	37	c.327G>A	CCDS163.1																																																																																				0.657	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215	
AKR7A3	22977	broad.mit.edu	37	1	19615062	19615062	+	Missense_Mutation	SNP	C	C	G	rs199504000		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:19615062C>G	ENST00000361640.4	-	1	682	c.142G>C	c.(142-144)Gtg>Ctg	p.V48L		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	48					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTGTACACGAAGGCCGTG	0.711																																						uc001bbv.1																			0					0						c.(142-144)GTG>CTG		aldo-keto reductase family 7, member A3		G	LEU/VAL	0,4402		0,0,2201	24.0	25.0	25.0		142	-6.3	0.0	1		25	3,8595	2.2+/-6.3	0,3,4296	no	missense	AKR7A3	NM_012067.2	32	0,3,6497	GG,GC,CC		0.0349,0.0,0.0231	benign	48/332	19615062	3,12997	2201	4299	6500	SO:0001583	missense	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19615062C>G	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.142G>C	1.37:g.19615062C>G	ENSP00000355377:p.Val48Leu						p.V48L	NM_012067	NP_036199	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	219	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	48					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	ENST00000361640.4	37	c.142G>C	CCDS193.1	.	.	.	.	.	.	.	.	.	.	c	2.715	-0.267819	0.05754	0.0	3.49E-4	ENSG00000162482	ENST00000361640	T	0.24538	1.85	3.17	-6.35	0.01975	NADP-dependent oxidoreductase domain (3);	0.086043	0.85682	D	0.000000	T	0.10035	0.0246	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09164	-1.0687	9	0.27082	T	0.32	.	3.0874	0.06283	0.1202:0.1309:0.1206:0.6283	.	48	O95154	ARK73_HUMAN	L	48	ENSP00000355377:V48L	ENSP00000355377:V48L	V	-	1	0	AKR7A3	19487649	0.026000	0.19158	0.001000	0.08648	0.030000	0.12068	-1.205000	0.03014	-2.004000	0.00961	-0.700000	0.03674	GTG		0.711	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067	
LRIF1	55791	broad.mit.edu	37	1	111494470	111494470	+	Nonsense_Mutation	SNP	G	G	A	rs375319628		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:111494470G>A	ENST00000369763.4	-	2	1426	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTTTGGATCGCGTCCCACTA	0.353																																						uc001eaa.2																			0					0						c.(1036-1038)CGA>TGA		receptor-interacting factor 1 isoform 1		G	,stop/ARG	0,4406		0,0,2203	82.0	86.0	85.0		,1036	5.7	0.9	1		85	1,8599	1.2+/-3.3	0,1,4299	no	intron,stop-gained	LRIF1	NM_001006945.1,NM_018372.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,346/770	111494470	1,13005	2203	4300	6503	SO:0001587	stop_gained	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494470G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1036C>T	1.37:g.111494470G>A	ENSP00000358778:p.Arg346*					C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.R346*	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	1292	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	346					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Nonsense_Mutation	SNP	ENST00000369763.4	37	c.1036C>T	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	36	5.893624	0.97074	0.0	1.16E-4	ENSG00000121931	ENST00000369763	.	.	.	5.7	5.7	0.88788	.	0.187793	0.37761	N	0.001947	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.0041	17.3445	0.87306	0.0:0.0:1.0:0.0	.	.	.	.	X	346	.	ENSP00000358778:R346X	R	-	1	2	LRIF1	111295993	1.000000	0.71417	0.877000	0.34402	0.209000	0.24338	5.818000	0.69236	2.705000	0.92388	0.591000	0.81541	CGA		0.353	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372	
HIPK1	204851	broad.mit.edu	37	1	114508833	114508833	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:114508833G>T	ENST00000369558.1	+	11	2552	c.2320G>T	c.(2320-2322)Gtc>Ttc	p.V774F	HIPK1_ENST00000340480.4_Missense_Mutation_p.V400F|HIPK1_ENST00000426820.2_Missense_Mutation_p.V774F|HIPK1_ENST00000369559.4_Missense_Mutation_p.V774F|HIPK1_ENST00000369553.1_Missense_Mutation_p.V380F|HIPK1_ENST00000369554.2_Missense_Mutation_p.V729F|HIPK1_ENST00000369561.4_Missense_Mutation_p.V740F|HIPK1_ENST00000369555.2_Missense_Mutation_p.V729F|HIPK1_ENST00000406344.1_Missense_Mutation_p.V380F			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	774					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACAACTCTGTCCAGCCCAC	0.542																																						uc001eem.2																			0				ovary(4)	4						c.(2320-2322)GTC>TTC		homeodomain-interacting protein kinase 1 isoform							108.0	95.0	99.0					1																	114508833		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114508833G>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2320G>T	1.37:g.114508833G>T	ENSP00000358571:p.Val774Phe					HIPK1_uc001eel.2_Missense_Mutation_p.V774F|HIPK1_uc001een.2_Missense_Mutation_p.V774F|HIPK1_uc001eeo.2_Missense_Mutation_p.V400F|HIPK1_uc001eep.2_Missense_Mutation_p.V380F|HIPK1_uc001eeq.2_Missense_Mutation_p.V66F	p.V774F	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2481	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	774					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.2320G>T	CCDS867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.269508|5.269508	0.95429|0.95429	.|.	.|.	ENSG00000163349|ENSG00000163349	ENST00000361587|ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	.|T;T;T;T;T;T;T;T;T;T	.|0.22336	.|1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.38321|0.38321	0.1036|0.1036	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;P	.|0.76494	.|0.999;0.998;0.978;0.587	.|D;D;P;B	.|0.76575	.|0.988;0.964;0.694;0.318	T|T	0.05370|0.05370	-1.0889|-1.0889	5|10	.|0.56958	.|D	.|0.05	.|.	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;380;774;774	.|E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.|.;.;HIPK1_HUMAN;.	F|F	54|845;774;774;729;729;774;740;400;380;380	.|ENSP00000407442:V845F;ENSP00000358572:V774F;ENSP00000409673:V774F;ENSP00000358567:V729F;ENSP00000358568:V729F;ENSP00000358571:V774F;ENSP00000358574:V740F;ENSP00000340956:V400F;ENSP00000358566:V380F;ENSP00000384960:V380F	.|ENSP00000340956:V400F	C|V	+|+	2|1	0|0	HIPK1|HIPK1	114310356|114310356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.006000|3.006000	0.49529|0.49529	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	TGT|GTC		0.542	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
HIPK1	204851	broad.mit.edu	37	1	114508840	114508840	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:114508840C>A	ENST00000369558.1	+	11	2559	c.2327C>A	c.(2326-2328)cCc>cAc	p.P776H	HIPK1_ENST00000340480.4_Missense_Mutation_p.P402H|HIPK1_ENST00000426820.2_Missense_Mutation_p.P776H|HIPK1_ENST00000369559.4_Missense_Mutation_p.P776H|HIPK1_ENST00000369553.1_Missense_Mutation_p.P382H|HIPK1_ENST00000369554.2_Missense_Mutation_p.P731H|HIPK1_ENST00000369561.4_Missense_Mutation_p.P742H|HIPK1_ENST00000369555.2_Missense_Mutation_p.P731H|HIPK1_ENST00000406344.1_Missense_Mutation_p.P382H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	776					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGTCCAGCCCACAGCAATG	0.552																																						uc001eem.2																			0				ovary(4)	4						c.(2326-2328)CCC>CAC		homeodomain-interacting protein kinase 1 isoform							107.0	93.0	98.0					1																	114508840		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114508840C>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2327C>A	1.37:g.114508840C>A	ENSP00000358571:p.Pro776His					HIPK1_uc001eel.2_Missense_Mutation_p.P776H|HIPK1_uc001een.2_Missense_Mutation_p.P776H|HIPK1_uc001eeo.2_Missense_Mutation_p.P402H|HIPK1_uc001eep.2_Missense_Mutation_p.P382H|HIPK1_uc001eeq.2_Missense_Mutation_p.P68H	p.P776H	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2488	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	776					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.2327C>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857441	0.51376	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.18676	0.0448	N	0.14661	0.345	0.80722	D	1	B;B;B;D	0.59357	0.053;0.009;0.054;0.985	B;B;B;P	0.55999	0.043;0.03;0.021;0.789	T	0.01464	-1.1348	10	0.06494	T	0.89	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	68;382;776;776	E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.;.;HIPK1_HUMAN;.	H	847;776;776;731;731;776;742;402;382;382	ENSP00000407442:P847H;ENSP00000358572:P776H;ENSP00000409673:P776H;ENSP00000358567:P731H;ENSP00000358568:P731H;ENSP00000358571:P776H;ENSP00000358574:P742H;ENSP00000340956:P402H;ENSP00000358566:P382H;ENSP00000384960:P382H	ENSP00000340956:P402H	P	+	2	0	HIPK1	114310363	0.983000	0.35010	1.000000	0.80357	0.978000	0.69477	2.509000	0.45459	2.752000	0.94435	0.655000	0.94253	CCC		0.552	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
GBAP1	2630	broad.mit.edu	37	1	155186783	155186783	+	RNA	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:155186783C>T	ENST00000486869.1	-	0	520					NR_002188.2				glucosidase, beta, acid pseudogene 1																		TGAAACGGGACGCTGGGCCAA	0.582																																						uc001fjd.2																			0					0						c.(376-378)CGT>CAT		SubName: Full=cDNA FLJ56170, highly similar to Glucosylceramidase (EC 3.2.1.45);																																						2630							g.chr1:155186783C>T	J03060		1q22	2012-11-19	2010-01-19	2010-01-19	ENSG00000160766	ENSG00000160766			4178	pseudogene	pseudogene			"""glucosidase, beta; acid, pseudogene"""	GBAP			Standard	NR_002188		Approved		uc001fjd.3		OTTHUMG00000176393		1.37:g.155186783C>T						RAG1AP1_uc010pey.1_Intron|GBAP1_uc001fjf.3_Missense_Mutation_p.R87H|GBAP1_uc001fje.3_Missense_Mutation_p.R48H	p.R126H							5	521	-									Missense_Mutation	SNP	ENST00000486869.1	37	c.377G>A		.	.	.	.	.	.	.	.	.	.	.	1.086	-0.665486	0.03428	.	.	ENSG00000160766	ENST00000368374;ENST00000313929	.	.	.	3.51	2.58	0.30949	.	0.071973	0.56097	D	0.000033	T	0.12178	0.0296	.	.	.	0.29001	N	0.887447	B;P;B	0.46912	0.018;0.886;0.083	B;B;B	0.36186	0.005;0.219;0.048	T	0.06092	-1.0846	7	0.39692	T	0.17	.	6.7903	0.23695	0.0:0.8657:0.0:0.1343	.	87;48;126	C4AM82;B3KQW3;B4DHT6	.;.;.	H	87	.	ENSP00000316400:R87H	R	-	2	0	GBAP1	153453407	0.763000	0.28462	0.126000	0.21872	0.004000	0.04260	0.566000	0.23593	0.803000	0.34113	0.563000	0.77884	CGT		0.582	GBAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000087219.2	NR_002188.2	
SMG5	23381	broad.mit.edu	37	1	156235769	156235769	+	Missense_Mutation	SNP	T	T	C	rs151295845		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:156235769T>C	ENST00000361813.5	-	12	1802	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	553					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAGTGGGCCATTGAGGGAATC	0.607													T|||	1	0.000199681	0.0	0.0	5008	,	,		17501	0.001		0.0	False		,,,				2504	0.0					uc001foc.3																			0				ovary(2)|skin(2)|pancreas(1)	5						c.(1657-1659)AAT>AGT		SMG5 homolog nonsense mediated mRNA decay		T	SER/ASN	0,4406		0,0,2203	52.0	51.0	51.0		1658	2.0	1.0	1	dbSNP_134	51	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SMG5	NM_015327.2	46	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging	553/1017	156235769	3,13003	2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156235769T>C	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1658A>G	1.37:g.156235769T>C	ENSP00000355261:p.Asn553Ser					SMG5_uc009wrv.2_Missense_Mutation_p.N38S	p.N553S	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			12	1807	-	Hepatocellular(266;0.158)		553					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.1658A>G	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748584	0.49257	0.0	3.49E-4	ENSG00000198952	ENST00000361813	T	0.32988	1.43	5.51	1.99	0.26369	.	0.127889	0.52532	D	0.000077	T	0.09291	0.0229	L	0.29908	0.895	0.80722	D	1	P	0.47762	0.9	B	0.40940	0.344	T	0.08126	-1.0737	10	0.33141	T	0.24	-7.8878	8.3463	0.32275	0.0:0.2294:0.0:0.7706	.	553	Q9UPR3	SMG5_HUMAN	S	553	ENSP00000355261:N553S	ENSP00000355261:N553S	N	-	2	0	SMG5	154502393	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	5.919000	0.70005	0.384000	0.24942	0.533000	0.62120	AAT		0.607	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327	
CADM3	57863	broad.mit.edu	37	1	159162382	159162382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:159162382C>T	ENST00000368125.4	+	3	401	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CADM3_ENST00000368124.4_Nonsense_Mutation_p.R116*	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	82	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGAGATAATCGAATTCAGCT	0.512																																						uc001ftl.2																			0				ovary(2)	2						c.(244-246)CGA>TGA		cell adhesion molecule 3 isoform 2							119.0	106.0	110.0					1																	159162382		2203	4300	6503	SO:0001587	stop_gained	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162382C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.244C>T	1.37:g.159162382C>T	ENSP00000357107:p.Arg82*					CADM3_uc009wsx.1_Nonsense_Mutation_p.R116*|CADM3_uc009wsy.1_Nonsense_Mutation_p.R82*|CADM3_uc001ftk.2_Nonsense_Mutation_p.R116*	p.R82*	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			3	386	+	all_hematologic(112;0.0429)		82			Ig-like V-type.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Nonsense_Mutation	SNP	ENST00000368125.4	37	c.244C>T	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	37	6.043642	0.97231	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	.	.	.	5.22	4.25	0.50352	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3294	0.43814	0.2853:0.7147:0.0:0.0	.	.	.	.	X	116;82;82	.	ENSP00000357106:R116X	R	+	1	2	CADM3	157429006	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.783000	0.26802	2.708000	0.92522	0.650000	0.86243	CGA		0.512	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
PVRL4	81607	broad.mit.edu	37	1	161049728	161049728	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:161049728C>T	ENST00000368012.3	-	2	393	c.91G>A	c.(91-93)Gcg>Acg	p.A31T		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	31					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTCACCCGCGGGGCACCGG	0.627																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			0				ovary(2)	2						c.(91-93)GCG>ACG		poliovirus receptor-related 4 precursor							29.0	33.0	32.0					1																	161049728		2199	4298	6497	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161049728C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.91G>A	1.37:g.161049728C>T	ENSP00000356991:p.Ala31Thr						p.A31T	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		2	390	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		31					B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.91G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211897	0.58452	.	.	ENSG00000143217	ENST00000368012	T	0.40756	1.02	5.51	4.59	0.56863	Immunoglobulin-like (1);	0.104110	0.42682	D	0.000671	T	0.20780	0.0500	N	0.19112	0.55	0.49687	D	0.99981	D	0.53885	0.963	P	0.48270	0.572	T	0.02519	-1.1147	10	0.33141	T	0.24	.	12.4339	0.55588	0.0:0.8314:0.1686:0.0	.	31	Q96NY8	PVRL4_HUMAN	T	31	ENSP00000356991:A31T	ENSP00000356991:A31T	A	-	1	0	PVRL4	159316352	0.471000	0.25862	0.041000	0.18516	0.707000	0.40811	1.112000	0.31172	1.297000	0.44761	0.650000	0.86243	GCG		0.627	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916	
XCL1	6375	broad.mit.edu	37	1	168550427	168550427	+	Missense_Mutation	SNP	C	C	T	rs141027416		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:168550427C>T	ENST00000367818.3	+	3	479	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	105					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					ACCCAGCAATCGACCAATACA	0.522																																						uc001gfo.1																			0					0						c.(313-315)TCG>TTG		chemokine (C motif) ligand 1		C	LEU/SER	0,4406		0,0,2203	266.0	229.0	241.0		314	4.8	0.0	1	dbSNP_134	241	2,8598	2.2+/-6.3	0,2,4298	no	missense	XCL1	NM_002995.2	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	105/115	168550427	2,13004	2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168550427C>T	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.314C>T	1.37:g.168550427C>T	ENSP00000356792:p.Ser105Leu						p.S105L	NM_002995	NP_002986	P47992	XCL1_HUMAN			3	334	+	all_hematologic(923;0.208)		105					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.314C>T	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828983	0.50845	0.0	2.33E-4	ENSG00000143184	ENST00000367818	T	0.04049	3.72	4.83	4.83	0.62350	Chemokine interleukin-8-like domain (1);	0.527319	0.18984	N	0.125799	T	0.03053	0.0090	L	0.59436	1.845	0.28795	N	0.899091	P	0.43662	0.814	B	0.35073	0.195	T	0.27088	-1.0084	9	0.87932	D	0	-2.1747	13.611	0.62078	0.0:1.0:0.0:0.0	.	105	P47992	XCL1_HUMAN	L	105	ENSP00000356792:S105L	ENSP00000356792:S105L	S	+	2	0	XCL1	166817051	0.004000	0.15560	0.019000	0.16419	0.078000	0.17371	1.855000	0.39378	2.660000	0.90430	0.655000	0.94253	TCG		0.522	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995	
SELE	6401	broad.mit.edu	37	1	169697312	169697312	+	Missense_Mutation	SNP	C	C	T	rs139137736		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:169697312C>T	ENST00000333360.7	-	8	1305	c.1166G>A	c.(1165-1167)cGt>cAt	p.R389H	SELE_ENST00000367782.4_Missense_Mutation_p.R389H|SELE_ENST00000367775.1_Intron|SELE_ENST00000367781.4_Intron|SELE_ENST00000367776.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.R389H|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	389	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GGACCCATAACGGAAACTGCC	0.522																																						uc001ggm.3																			0				ovary(3)|skin(2)	5						c.(1165-1167)CGT>CAT		selectin E precursor		C	HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	124.0	123.0	123.0		1166	0.1	0.0	1	dbSNP_134	123	0,8600		0,0,4300	yes	missense	SELE	NM_000450.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	389/611	169697312	2,13004	2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169697312C>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1166G>A	1.37:g.169697312C>T	ENSP00000331736:p.Arg389His					C1orf112_uc001ggj.2_Intron	p.R389H	NM_000450	NP_000441	P16581	LYAM2_HUMAN			8	1323	-	all_hematologic(923;0.208)		389			Sushi 4.|Extracellular (Potential).		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1166G>A	CCDS1283.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.863	0.528548	0.13127	4.54E-4	0.0	ENSG00000007908	ENST00000367782;ENST00000333360;ENST00000367777	T;T;T	0.65364	-0.15;-0.15;-0.15	5.58	0.0696	0.14375	Complement control module (2);Sushi/SCR/CCP (3);	0.736767	0.11450	N	0.562896	T	0.20740	0.0499	N	0.17312	0.475	0.21527	N	0.999652	B	0.12013	0.005	B	0.14023	0.01	T	0.23691	-1.0181	10	0.49607	T	0.09	-0.7423	5.783	0.18318	0.0:0.1448:0.2635:0.5916	.	389	P16581	LYAM2_HUMAN	H	389	ENSP00000356756:R389H;ENSP00000331736:R389H;ENSP00000356751:R389H	ENSP00000331736:R389H	R	-	2	0	SELE	167963936	0.003000	0.15002	0.016000	0.15963	0.021000	0.10359	0.006000	0.13152	0.079000	0.16929	-0.290000	0.09829	CGT		0.522	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
OR2M3	127062	broad.mit.edu	37	1	248367150	248367150	+	Missense_Mutation	SNP	C	C	T	rs147728074		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:248367150C>T	ENST00000456743.1	+	1	819	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261W(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.502													c|||	1	0.000199681	0.0	0.0	5008	,	,		18234	0.001		0.0	False		,,,				2504	0.0					uc010pzg.1																			1	Substitution - Missense(1)		prostate(1)	ovary(1)|skin(1)	2						c.(781-783)CGG>TGG		olfactory receptor, family 2, subfamily M,		C	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	201.0	184.0	190.0		781	-5.1	0.0	1	dbSNP_134	190	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2M3	NM_001004689.1	101	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	benign	261/313	248367150	6,13000	2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367150C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.781C>T	1.37:g.248367150C>T	ENSP00000389625:p.Arg261Trp						p.R261W	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	781	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		261			Extracellular (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.781C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	6.490	0.458682	0.12342	0.001135	1.16E-4	ENSG00000228198	ENST00000456743	T	0.37915	1.17	2.54	-5.08	0.02929	GPCR, rhodopsin-like superfamily (1);	0.725918	0.10711	U	0.642863	T	0.35422	0.0931	M	0.78285	2.405	0.09310	N	1	B	0.19073	0.033	B	0.25884	0.064	T	0.30001	-0.9993	10	0.44086	T	0.13	.	8.501	0.33159	0.6653:0.2427:0.0:0.092	.	261	Q8NG83	OR2M3_HUMAN	W	261	ENSP00000389625:R261W	ENSP00000389625:R261W	R	+	1	2	OR2M3	246433773	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.842000	0.01681	-1.886000	0.01116	-0.507000	0.04495	CGG		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
SLIT1	6585	broad.mit.edu	37	10	98808848	98808848	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr10:98808848G>A	ENST00000266058.4	-	14	1574	c.1329C>T	c.(1327-1329)tgC>tgT	p.C443C	SLIT1_ENST00000371070.4_Silent_p.C443C|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	443	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTTACAGTCGCAAATGAAAG	0.617																																						uc001kmw.2																			0				ovary(4)	4						c.(1327-1329)TGC>TGT		slit homolog 1 precursor							63.0	57.0	59.0					10																	98808848		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98808848G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1329C>T	10.37:g.98808848G>A						SLIT1_uc009xvh.1_Silent_p.C453C	p.C443C	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	14	1581	-		Colorectal(252;0.162)	443			LRRCT 2.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.1329C>T	CCDS7453.1																																																																																				0.617	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
RBMXL2	27288	broad.mit.edu	37	11	7111073	7111073	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:7111073G>A	ENST00000306904.5	+	1	909	c.722G>A	c.(721-723)cGc>cAc	p.R241H		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	241	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACACCCACCGCGATTACGGC	0.662																																						uc001mfc.2																			0					0						c.(721-723)CGC>CAC		testes-specific heterogenous nuclear							22.0	24.0	23.0					11																	7111073		2193	4277	6470	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111073G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.722G>A	11.37:g.7111073G>A	ENSP00000304139:p.Arg241His						p.R241H	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	909	+			241			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.722G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893755	0.33442	.	.	ENSG00000170748	ENST00000306904	T	0.79554	-1.28	3.08	2.17	0.27698	.	0.000000	0.85682	U	0.000000	T	0.65144	0.2663	N	0.19112	0.55	0.45704	D	0.998616	B	0.15473	0.013	B	0.10450	0.005	T	0.60419	-0.7267	10	0.52906	T	0.07	.	8.6182	0.33845	0.1218:0.0:0.8782:0.0	.	241	O75526	HNRGT_HUMAN	H	241	ENSP00000304139:R241H	ENSP00000304139:R241H	R	+	2	0	RBMXL2	7067649	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	4.475000	0.60210	0.856000	0.35383	-0.444000	0.05651	CGC		0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469	
ABCC8	6833	broad.mit.edu	37	11	17419338	17419338	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:17419338T>C	ENST00000389817.3	-	31	3828	c.3760A>G	c.(3760-3762)Atc>Gtc	p.I1254V	ABCC8_ENST00000302539.4_Missense_Mutation_p.I1255V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1254	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CATGCACCGATGTACTCCTGG	0.632																																						uc001mnc.2																			0				ovary(1)	1						c.(3760-3762)ATC>GTC		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						80.0	76.0	78.0					11																	17419338		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17419338T>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3760A>G	11.37:g.17419338T>C	ENSP00000374467:p.Ile1254Val						p.I1254V	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	31	3886	-			1254			Helical; Name=16; (By similarity).|ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3760A>G	CCDS31437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.268|3.268	-0.149787|-0.149787	0.06585|0.06585	.|.	.|.	ENSG00000006071|ENSG00000006071	ENST00000528374|ENST00000389817;ENST00000302539	.|D;D	.|0.90620	.|-2.7;-2.7	5.18|5.18	5.18|5.18	0.71444|0.71444	.|ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	.|0.072865	.|0.64402	.|D	.|0.000013	T|T	0.82089|0.82089	0.4961|0.4961	N|N	0.20574|0.20574	0.59|0.59	0.50813|0.50813	D|D	0.999896|0.999896	.|B	.|0.13594	.|0.008	.|B	.|0.23150	.|0.044	T|T	0.75651|0.75651	-0.3244|-0.3244	5|10	.|0.02654	.|T	.|1	.|.	15.3143|15.3143	0.74062|0.74062	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1254	.|Q09428	.|ABCC8_HUMAN	R|V	77|1254;1255	.|ENSP00000374467:I1254V;ENSP00000303960:I1255V	.|ENSP00000303960:I1255V	H|I	-|-	2|1	0|0	ABCC8|ABCC8	17375914|17375914	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.913000|0.913000	0.54294|0.54294	3.940000|3.940000	0.56599|0.56599	2.085000|2.085000	0.62840|0.62840	0.454000|0.454000	0.30748|0.30748	CAT|ATC		0.632	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
MS4A14	84689	broad.mit.edu	37	11	60183620	60183620	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:60183620C>T	ENST00000300187.6	+	5	1456	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	MS4A14_ENST00000531783.1_Silent_p.H426H|MS4A14_ENST00000531787.1_Silent_p.H281H|MS4A14_ENST00000395005.2_Silent_p.H376H|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	393						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						caccatcccacgccatgccac	0.448																																						uc001npj.2																			0				breast(1)	1						c.(1177-1179)CAC>CAT		membrane-spanning 4-domains, subfamily A, member							126.0	102.0	110.0					11																	60183620		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60183620C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1179C>T	11.37:g.60183620C>T						MS4A14_uc001npi.2_Silent_p.H281H|MS4A14_uc001npn.2_Silent_p.H131H|MS4A14_uc001npk.2_Silent_p.H376H|MS4A14_uc001npl.2_Silent_p.H131H|MS4A14_uc001npm.2_Silent_p.H131H	p.H393H	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1744	+			393					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1179C>T	CCDS31569.1																																																																																				0.448	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
LRP5	4041	broad.mit.edu	37	11	68177525	68177525	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:68177525G>A	ENST00000294304.7	+	10	2341	c.2235G>A	c.(2233-2235)gcG>gcA	p.A745A		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	745	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGAAGTGGCGCGGCTGGACG	0.617																																						uc001ont.2																			0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(2233-2235)GCG>GCA		low density lipoprotein receptor-related protein							92.0	73.0	80.0					11																	68177525		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68177525G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2235G>A	11.37:g.68177525G>A						LRP5_uc009ysg.2_Silent_p.A155A	p.A745A	NM_002335	NP_002326	O75197	LRP5_HUMAN			10	2310	+			745			LDL-receptor class B 12.|Beta-propeller 3.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.2235G>A	CCDS8181.1																																																																																				0.617	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335	
CBL	867	broad.mit.edu	37	11	119148932	119148932	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:119148932T>G	ENST00000264033.4	+	8	1528	c.1152T>G	c.(1150-1152)tgT>tgG	p.C384W		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	384	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_Q409del(13)|p.E369_Q409del(1)|p.E369_D390del(1)|p.?(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GTAAAATATGTGCTGAAAATG	0.353			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2				"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					17	Deletion - In frame(16)|Unknown(1)	p.E366_Q409del(13)|p.C384R(7)|p.C384Y(4)|p.E369_D390del(1)|p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(17)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(1150-1152)TGT>TGG		Cas-Br-M (murine) ecotropic retroviral							96.0	90.0	92.0					11																	119148932		2199	4295	6494	SO:0001583	missense	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119148932T>G	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1152T>G	11.37:g.119148932T>G	ENSP00000264033:p.Cys384Trp						p.C384W	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	8	1290	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	384			Asp/Glu-rich (acidic).|RING-type.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1152T>G	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645668	0.47258	.	.	ENSG00000110395	ENST00000264033	D	0.96522	-4.04	5.52	4.4	0.53042	Zinc finger, RING-type (2);SH2 motif (1);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98098	1.0413	10	0.87932	D	0	-42.782	11.3624	0.49651	0.0:0.071:0.0:0.929	.	384	P22681	CBL_HUMAN	W	384	ENSP00000264033:C384W	ENSP00000264033:C384W	C	+	3	2	CBL	118654142	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.575000	0.36493	1.042000	0.40150	0.455000	0.32223	TGT		0.353	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
APOF	319	broad.mit.edu	37	12	56755294	56755294	+	Missense_Mutation	SNP	C	C	A	rs368571017		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:56755294C>A	ENST00000398189.3	-	2	773	c.696G>T	c.(694-696)atG>atT	p.M232I	STAT2_ENST00000557235.1_5'Flank|STAT2_ENST00000314128.4_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.M214I|STAT2_ENST00000418572.2_5'Flank	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	232					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCCCCCCTGACATCCCAGCCA	0.517																																						uc001sle.1																			0					0						c.(694-696)ATG>ATT		apolipoprotein F precursor							69.0	70.0	70.0					12																	56755294		1946	4146	6092	SO:0001583	missense	319				cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	g.chr12:56755294C>A	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.696G>T	12.37:g.56755294C>A	ENSP00000381250:p.Met232Ile						p.M232I	NM_001638	NP_001629	Q13790	APOF_HUMAN			2	750	-			232					Q8TC13	Missense_Mutation	SNP	ENST00000398189.3	37	c.696G>T	CCDS44923.1	.	.	.	.	.	.	.	.	.	.	C	8.926	0.962369	0.18583	.	.	ENSG00000175336	ENST00000398189;ENST00000541105	T;T	0.40225	1.04;1.04	5.5	-0.0309	0.13912	.	2.209180	0.02514	N	0.091830	T	0.27241	0.0668	N	0.22421	0.69	0.09310	N	1	B	0.22480	0.07	B	0.15484	0.013	T	0.08827	-1.0703	10	0.23302	T	0.38	3.7802	4.3579	0.11187	0.1526:0.4442:0.0:0.4033	.	232	Q13790	APOF_HUMAN	I	232;214	ENSP00000381250:M232I;ENSP00000440997:M214I	ENSP00000381250:M232I	M	-	3	0	APOF	55041561	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.057000	0.14279	0.026000	0.15269	0.655000	0.94253	ATG		0.517	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1		
CAPS2	84698	broad.mit.edu	37	12	75678781	75678781	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:75678781A>G	ENST00000409445.3	-	16	1728	c.1532T>C	c.(1531-1533)aTt>aCt	p.I511T	CAPS2_ENST00000442339.2_Missense_Mutation_p.I101T|CAPS2_ENST00000409799.1_Missense_Mutation_p.I429T|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000393284.3_Missense_Mutation_p.I279T	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	511	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CATTTCACCAATAATACCACG	0.313																																						uc001sxk.3																			0				ovary(2)	2						c.(1531-1533)ATT>ACT		calcyphosine 2							125.0	112.0	116.0					12																	75678781		2203	4300	6503	SO:0001583	missense	84698						calcium ion binding	g.chr12:75678781A>G	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1532T>C	12.37:g.75678781A>G	ENSP00000386959:p.Ile511Thr					CAPS2_uc001sxm.3_Missense_Mutation_p.I279T|CAPS2_uc009zsa.2_Missense_Mutation_p.I101T|CAPS2_uc001sxi.3_Missense_Mutation_p.I247T|CAPS2_uc001sxj.3_Missense_Mutation_p.I422T|CAPS2_uc001sxl.3_Missense_Mutation_p.I492T	p.I511T	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			16	1729	-			511			EF-hand 2.		Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.1532T>C	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	A	10.51	1.369221	0.24771	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	T;T;T;T	0.24538	1.91;1.85;1.94;1.99	5.53	5.53	0.82687	EF-hand-like domain (1);	0.762104	0.12152	N	0.494724	T	0.25232	0.0613	L	0.47716	1.5	0.31855	N	0.621684	B;B;P;B;B	0.35401	0.009;0.059;0.499;0.049;0.027	B;B;B;B;B	0.33121	0.019;0.026;0.158;0.044;0.044	T	0.26744	-1.0094	10	0.52906	T	0.07	-3.5222	11.8892	0.52620	0.9298:0.0:0.0702:0.0	.	101;279;247;511;429	A2RRN2;Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;.;CAYP2_HUMAN;.	T	429;511;247;279;101	ENSP00000386977:I429T;ENSP00000386959:I511T;ENSP00000376963:I279T;ENSP00000389633:I101T	ENSP00000367975:I247T	I	-	2	0	CAPS2	73965048	0.973000	0.33851	0.921000	0.36526	0.528000	0.34623	2.420000	0.44679	2.224000	0.72417	0.528000	0.53228	ATT		0.313	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2		
TDG	6996	broad.mit.edu	37	12	104378553	104378553	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:104378553T>A	ENST00000392872.3	+	8	1053	c.819T>A	c.(817-819)agT>agA	p.S273R	AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.S69R|TDG_ENST00000544861.1_Missense_Mutation_p.S130R|TDG_ENST00000266775.9_Missense_Mutation_p.S269R	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	273					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CATCATCCAGTGCAAGATGTG	0.338								Base excision repair (BER), DNA glycosylases																														uc001tkg.2																			0				ovary(3)|lung(3)	6						c.(817-819)AGT>AGA	BER_DNA_glycosylases	thymine-DNA glycosylase							82.0	70.0	74.0					12																	104378553		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104378553T>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.819T>A	12.37:g.104378553T>A	ENSP00000376611:p.Ser273Arg					TDG_uc009zuk.2_Missense_Mutation_p.S269R|TDG_uc010swi.1_Missense_Mutation_p.S130R|TDG_uc010swj.1_Missense_Mutation_p.S61R	p.S273R	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	8	1042	+			273					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.819T>A	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173359	0.78452	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.99	0.968	0.19680	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	D	0.85898	0.5804	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85094	0.0953	10	0.87932	D	0	-24.389	9.6756	0.40039	0.0:0.2583:0.0:0.7417	.	69;273;273	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	R	273;269;130;69	ENSP00000376611:S273R;ENSP00000266775:S269R;ENSP00000445899:S130R;ENSP00000439054:S69R	ENSP00000266775:S269R	S	+	3	2	TDG	102902683	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	0.799000	0.27028	-0.059000	0.13154	0.533000	0.62120	AGT		0.338	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		
TMEM132D	121256	broad.mit.edu	37	12	129558525	129558525	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:129558525G>A	ENST00000422113.2	-	9	3521	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	TMEM132D_ENST00000389441.4_Silent_p.I603I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1065					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACTCATCACGATGGAGTTCC	0.517																																						uc009zyl.1																			0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(3193-3195)ATC>ATT		transmembrane protein 132D precursor							167.0	160.0	162.0					12																	129558525		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129558525G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3195C>T	12.37:g.129558525G>A						TMEM132D_uc001uia.2_Silent_p.I603I	p.I1065I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3523	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1065			Cytoplasmic (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.3195C>T	CCDS9266.1																																																																																				0.517	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
EFNB2	1948	broad.mit.edu	37	13	107187195	107187195	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr13:107187195A>C	ENST00000245323.4	-	1	267	c.118T>G	c.(118-120)Tcc>Gcc	p.S40A		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	40	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ACTTACTTGGAGTTCGAGGAA	0.597																																						uc001vqi.2																			0				ovary(1)	1						c.(118-120)TCC>GCC		ephrin B2 precursor							56.0	59.0	58.0					13																	107187195		2202	4300	6502	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107187195A>C	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.118T>G	13.37:g.107187195A>C	ENSP00000245323:p.Ser40Ala						p.S40A	NM_004093	NP_004084	P52799	EFNB2_HUMAN			1	143	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		40			Extracellular (Potential).		Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.118T>G	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	A	9.144	1.014694	0.19355	.	.	ENSG00000125266	ENST00000245323	D	0.93307	-3.2	4.5	3.33	0.38152	Cupredoxin (2);	0.277254	0.41001	D	0.000972	D	0.85474	0.5705	L	0.27053	0.805	0.37468	D	0.915503	B	0.02656	0.0	B	0.08055	0.003	T	0.81284	-0.1002	10	0.49607	T	0.09	.	4.2067	0.10491	0.6412:0.19:0.1688:0.0	.	40	P52799	EFNB2_HUMAN	A	40	ENSP00000245323:S40A	ENSP00000245323:S40A	S	-	1	0	EFNB2	105985196	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.643000	0.37217	1.680000	0.50976	0.374000	0.22700	TCC		0.597	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093	
COL4A2	1284	broad.mit.edu	37	13	111134945	111134945	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr13:111134945C>T	ENST00000360467.5	+	32	3147	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	947	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGCAAAGGCGAGGCTGGAT	0.527																																						uc001vqx.2																			0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(2839-2841)GGC>GGT		alpha 2 type IV collagen preproprotein							117.0	120.0	119.0					13																	111134945		1892	4099	5991	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111134945C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2841C>T	13.37:g.111134945C>T							p.G947G	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		32	3130	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	947			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.2841C>T	CCDS41907.1																																																																																				0.527	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
KLHL28	54813	broad.mit.edu	37	14	45415013	45415013	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:45415013C>A	ENST00000396128.4	-	2	238	c.119G>T	c.(118-120)cGa>cTa	p.R40L	KLHL28_ENST00000355081.2_Missense_Mutation_p.R54L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	40	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTACTCGAAGAATGAT	0.428																																						uc001wvq.2																			0				ovary(1)	1						c.(118-120)CGA>CTA		BTB (POZ) domain containing 5							96.0	87.0	90.0					14																	45415013		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45415013C>A	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.119G>T	14.37:g.45415013C>A	ENSP00000379434:p.Arg40Leu					KLHL28_uc001wvr.2_Missense_Mutation_p.R40L|KLHL28_uc001wvt.3_Missense_Mutation_p.R40L	p.R40L	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN			2	365	-			40			BTB.		Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.119G>T	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144408	0.37825	.	.	ENSG00000179454	ENST00000396128;ENST00000355081;ENST00000556500;ENST00000556239;ENST00000557468	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;2.07	5.51	5.51	0.81932	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.057401	0.64402	D	0.000001	T	0.43277	0.1240	N	0.13043	0.29	0.48696	D	0.999696	B;B	0.31625	0.003;0.332	B;B	0.26969	0.017;0.075	T	0.41662	-0.9496	10	0.40728	T	0.16	.	12.7196	0.57134	0.0:0.9239:0.0:0.0761	.	40;40	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	L	40;54;40;40;40	ENSP00000379434:R40L;ENSP00000347193:R54L;ENSP00000452061:R40L;ENSP00000452591:R40L;ENSP00000450788:R40L	ENSP00000347193:R54L	R	-	2	0	KLHL28	44484763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.689000	0.68234	2.756000	0.94617	0.655000	0.94253	CGA		0.428	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3		
DLGAP5	9787	broad.mit.edu	37	14	55650334	55650334	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:55650334C>G	ENST00000247191.2	-	3	592	c.376G>C	c.(376-378)Gat>Cat	p.D126H	DLGAP5_ENST00000395425.2_Missense_Mutation_p.D126H	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	126					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAGGCATATCAGGTCTATAA	0.323																																						uc001xbs.2																			0				ovary(1)|skin(1)	2						c.(376-378)GAT>CAT		discs large homolog 7 isoform a							104.0	96.0	99.0					14																	55650334		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55650334C>G	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.376G>C	14.37:g.55650334C>G	ENSP00000247191:p.Asp126His					DLGAP5_uc001xbt.2_Missense_Mutation_p.D126H	p.D126H	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			3	593	-			126					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.376G>C	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374899	0.61735	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	T;T;T	0.17054	2.3;2.3;2.3	5.02	5.02	0.67125	.	0.333792	0.34676	N	0.003768	T	0.30448	0.0765	L	0.59436	1.845	0.29234	N	0.873056	D;D	0.71674	0.998;0.995	P;P	0.55785	0.784;0.72	T	0.07252	-1.0782	10	0.62326	D	0.03	.	13.2482	0.60036	0.0:0.9212:0.0:0.0788	.	126;126	A8MTM6;Q15398	.;DLGP5_HUMAN	H	126	ENSP00000378815:D126H;ENSP00000247191:D126H;ENSP00000451747:D126H	ENSP00000247191:D126H	D	-	1	0	DLGAP5	54720087	0.101000	0.21875	0.924000	0.36721	0.614000	0.37383	2.044000	0.41241	2.780000	0.95670	0.655000	0.94253	GAT		0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750	
KCNK10	54207	broad.mit.edu	37	14	88654322	88654322	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:88654322T>C	ENST00000340700.5	-	6	1436	c.985A>G	c.(985-987)Aca>Gca	p.T329A	KCNK10_ENST00000319231.5_Missense_Mutation_p.T334A|KCNK10_ENST00000312350.5_Missense_Mutation_p.T334A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	329					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTTCTTTTGTCTTTTTGGAC	0.493																																						uc001xwo.2																			0				ovary(2)|skin(2)|pancreas(1)	5						c.(985-987)ACA>GCA		potassium channel, subfamily K, member 10							143.0	144.0	144.0					14																	88654322		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88654322T>C	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.985A>G	14.37:g.88654322T>C	ENSP00000343104:p.Thr329Ala					KCNK10_uc001xwm.2_Missense_Mutation_p.T334A|KCNK10_uc001xwn.2_Missense_Mutation_p.T334A	p.T329A	NM_021161	NP_066984	P57789	KCNKA_HUMAN			6	1442	-			329			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.985A>G	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651670	0.88056	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.22336	1.96;1.96;1.96	5.82	5.82	0.92795	.	0.044975	0.85682	D	0.000000	T	0.42314	0.1197	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.97	D;D;D	0.85130	0.997;0.995;0.955	T	0.12837	-1.0532	10	0.44086	T	0.13	.	15.3589	0.74453	0.0:0.0:0.0:1.0	.	329;334;334	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	A	329;334;334	ENSP00000343104:T329A;ENSP00000310568:T334A;ENSP00000312811:T334A	ENSP00000310568:T334A	T	-	1	0	KCNK10	87724075	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.015000	0.88690	2.225000	0.72522	0.459000	0.35465	ACA		0.493	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	
C15orf52	388115	broad.mit.edu	37	15	40629935	40629935	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:40629935C>T	ENST00000559313.1	-	6	820	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	C15orf52_ENST00000397536.2_Missense_Mutation_p.A59T|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	269							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTGGACTTGGCCTTGTCCAGG	0.701																																						uc001zlh.3																			0				large_intestine(1)	1						c.(805-807)GCC>ACC		hypothetical protein LOC388115							29.0	29.0	29.0					15																	40629935		2202	4294	6496	SO:0001583	missense	388115							g.chr15:40629935C>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.805G>A	15.37:g.40629935C>T	ENSP00000453969:p.Ala269Thr					C15orf52_uc001zli.1_Missense_Mutation_p.A201T|C15orf52_uc010ucn.1_Missense_Mutation_p.A59T	p.A269T	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	6	821	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	269					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.805G>A	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718088	0.48622	.	.	ENSG00000188549	ENST00000382688;ENST00000397536;ENST00000397535	T	0.39056	1.1	4.63	2.54	0.30619	.	0.395274	0.21891	N	0.067583	T	0.41351	0.1155	L	0.37897	1.145	0.30487	N	0.771749	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.87578	0.998;0.973;0.96	T	0.44467	-0.9326	10	0.05436	T	0.98	-8.2934	4.3732	0.11258	0.2844:0.5946:0.0:0.121	.	59;201;269	Q6ZUT6-2;Q6ZUT6-3;Q6ZUT6	.;.;CO052_HUMAN	T	269;59;201	ENSP00000380670:A59T	ENSP00000372135:A269T	A	-	1	0	C15orf52	38417227	0.998000	0.40836	1.000000	0.80357	0.019000	0.09904	0.274000	0.18680	0.927000	0.37143	0.563000	0.77884	GCC		0.701	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380	
CYP11A1	1583	broad.mit.edu	37	15	74636252	74636252	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:74636252G>A	ENST00000268053.6	-	4	861	c.707C>T	c.(706-708)gCc>gTc	p.A236V	CYP11A1_ENST00000358632.4_Missense_Mutation_p.A78V|CYP11A1_ENST00000419019.2_Missense_Mutation_p.A78V|CYP11A1_ENST00000541301.1_3'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	236					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTGGTAGATGGCATCAATGAA	0.572																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			0				ovary(2)	2						c.(706-708)GCC>GTC		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						155.0	144.0	147.0					15																	74636252		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74636252G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.707C>T	15.37:g.74636252G>A	ENSP00000268053:p.Ala236Val					CYP11A1_uc002axs.2_Missense_Mutation_p.A78V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A78V|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Missense_Mutation_p.A236V|CYP11A1_uc010bjp.1_RNA|CYP11A1_uc010ulj.1_Missense_Mutation_p.A16V	p.A236V	NM_000781	NP_000772	P05108	CP11A_HUMAN			4	862	-			236					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.707C>T	CCDS32291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.584835|2.584835	0.46110|0.46110	.|.	.|.	ENSG00000140459|ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547|ENST00000452422	T;T;T|.	0.69561|.	-0.41;-0.41;-0.41|.	4.33|4.33	4.33|4.33	0.51752|0.51752	.|.	0.173464|.	0.50627|.	D|.	0.000110|.	D|D	0.82499|0.82499	0.5050|0.5050	M|M	0.86864|0.86864	2.845|2.845	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.77004|.	0.986;0.989|.	D|D	0.86862|0.86862	0.2030|0.2030	10|6	0.72032|0.87932	D|D	0.01|0	-19.9112|-19.9112	16.4872|16.4872	0.84188|0.84188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	206;236|.	B4DTE5;P05108|.	.;CP11A_HUMAN|.	V|S	236;78;78;148|2	ENSP00000268053:A236V;ENSP00000351455:A78V;ENSP00000405488:A78V|.	ENSP00000268053:A236V|ENSP00000391041:P2S	A|P	-|-	2|1	0|0	CYP11A1|CYP11A1	72423305|72423305	1.000000|1.000000	0.71417|0.71417	0.063000|0.063000	0.19743|0.19743	0.018000|0.018000	0.09664|0.09664	5.346000|5.346000	0.65992|0.65992	1.987000|1.987000	0.57996|0.57996	0.537000|0.537000	0.68136|0.68136	GCC|CCA		0.572	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1		
HAPLN3	145864	broad.mit.edu	37	15	89421300	89421300	+	Silent	SNP	C	C	T	rs528539488		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:89421300C>T	ENST00000359595.3	-	5	1198	c.984G>A	c.(982-984)ccG>ccA	p.P328P	HAPLN3_ENST00000562889.1_Silent_p.P390P	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	328	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	AGTTAGGATGCGGGTGAACCA	0.642																																						uc002bnc.2																			0					0						c.(982-984)CCG>CCA		hyaluronan and proteoglycan link protein 3							73.0	79.0	76.0					15																	89421300		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89421300C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.984G>A	15.37:g.89421300C>T						HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.P390P	p.P328P	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			5	1112	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		328			Link 2.		A8K7P0	Silent	SNP	ENST00000359595.3	37	c.984G>A	CCDS10346.1																																																																																				0.642	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232	
CASKIN1	57524	broad.mit.edu	37	16	2231462	2231462	+	Missense_Mutation	SNP	G	G	A	rs370499776	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:2231462G>A	ENST00000343516.6	-	18	1999	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	636					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGGCTCAGGCGGGGGCGGCGA	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		9755	0.0		0.0	False		,,,				2504	0.002					uc010bsg.1																			0				skin(2)	2						c.(1906-1908)CCG>CTG		CASK interacting protein 1		G	LEU/PRO	1,3943		0,1,1971	16.0	23.0	21.0		1907	3.5	0.0	16		21	0,8298		0,0,4149	no	missense	CASKIN1	NM_020764.3	98	0,1,6120	AA,AG,GG		0.0,0.0254,0.0082	benign	636/1432	2231462	1,12241	1972	4149	6121	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2231462G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1907C>T	16.37:g.2231462G>A	ENSP00000345436:p.Pro636Leu						p.P636L	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			18	1939	-			636					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.1907C>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	3.167	-0.170883	0.06421	2.54E-4	0.0	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.67345	-0.26	4.42	3.46	0.39613	.	.	.	.	.	T	0.54367	0.1854	L	0.47716	1.5	0.35275	D	0.780846	B	0.28667	0.219	B	0.13407	0.009	T	0.61637	-0.7022	9	0.52906	T	0.07	-7.9325	7.9964	0.30271	0.1899:0.0:0.8101:0.0	.	636	Q8WXD9	CSKI1_HUMAN	L	636;465	ENSP00000345436:P636L	ENSP00000345436:P636L	P	-	2	0	CASKIN1	2171463	0.999000	0.42202	0.019000	0.16419	0.012000	0.07955	2.963000	0.49184	1.078000	0.41014	-0.291000	0.09656	CCG		0.657	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764	
DNAH3	55567	broad.mit.edu	37	16	21080807	21080807	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:21080807C>T	ENST00000261383.3	-	23	3309	c.3310G>A	c.(3310-3312)Gcc>Acc	p.A1104T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1104T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1104	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCATCTGGGCTATGATGTCC	0.428																																						uc010vbe.1																			0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3310-3312)GCC>ACC		dynein, axonemal, heavy chain 3							184.0	156.0	165.0					16																	21080807		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080807C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3310G>A	16.37:g.21080807C>T	ENSP00000261383:p.Ala1104Thr						p.A1104T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	23	3310	-			1104			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3310G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882231	0.72294	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61158	0.13;0.13	5.15	5.15	0.70609	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76767	-0.2838	10	0.51188	T	0.08	.	18.9997	0.92828	0.0:1.0:0.0:0.0	.	1104	Q8TD57	DYH3_HUMAN	T	1104	ENSP00000261383:A1104T;ENSP00000394245:A1104T	ENSP00000261383:A1104T	A	-	1	0	DNAH3	20988308	0.969000	0.33509	1.000000	0.80357	0.993000	0.82548	1.991000	0.40727	2.580000	0.87095	0.655000	0.94253	GCC		0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
ITGAX	3687	broad.mit.edu	37	16	31382999	31382999	+	Missense_Mutation	SNP	G	G	A	rs146647978	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:31382999G>A	ENST00000268296.4	+	17	2175	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	ITGAX_ENST00000562522.1_Missense_Mutation_p.R685H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	685					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R685H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACCCTGGCCGCCTGAGTCCC	0.607																																						uc002ebu.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2053-2055)CGC>CAC		integrin alpha X precursor							66.0	64.0	65.0					16																	31382999		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382999G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2054G>A	16.37:g.31382999G>A	ENSP00000268296:p.Arg685His					ITGAX_uc002ebt.2_Missense_Mutation_p.R685H	p.R685H	NM_000887	NP_000878	P20702	ITAX_HUMAN			17	2121	+			685			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.2054G>A	CCDS10711.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.7	4.035621	0.75617	.	.	ENSG00000140678	ENST00000268296	T	0.51574	0.7	5.4	4.45	0.53987	Integrin alpha-2 (1);	.	.	.	.	T	0.66386	0.2784	M	0.81802	2.56	0.39690	D	0.971037	D	0.89917	1.0	D	0.67725	0.953	T	0.72100	-0.4392	9	0.87932	D	0	.	10.3716	0.44058	0.0907:0.0:0.9093:0.0	.	685	P20702	ITAX_HUMAN	H	685	ENSP00000268296:R685H	ENSP00000268296:R685H	R	+	2	0	ITGAX	31290500	0.995000	0.38212	0.900000	0.35374	0.705000	0.40729	1.722000	0.38042	1.396000	0.46663	0.655000	0.94253	CGC		0.607	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
PDP2	57546	broad.mit.edu	37	16	66918530	66918530	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:66918530G>A	ENST00000311765.2	+	2	677	c.343G>A	c.(343-345)Gct>Act	p.A115T	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	115					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAACCAGCTGGCTGCCAATTC	0.522																																						uc002eqk.1																			0				ovary(1)	1						c.(343-345)GCT>ACT		pyruvate dehydrogenase phosphatase isoenzyme 2							81.0	67.0	72.0					16																	66918530		2200	4300	6500	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66918530G>A	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.343G>A	16.37:g.66918530G>A	ENSP00000309548:p.Ala115Thr						p.A115T	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	505	+		Ovarian(137;0.0563)	115					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.343G>A	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069568	0.76301	.	.	ENSG00000172840	ENST00000311765	T	0.53206	0.63	5.62	4.66	0.58398	Protein phosphatase 2C-like (3);	0.118823	0.56097	D	0.000029	T	0.69242	0.3089	M	0.80616	2.505	0.49915	D	0.999832	D	0.71674	0.998	D	0.67900	0.954	T	0.74275	-0.3718	10	0.54805	T	0.06	-8.8588	16.3453	0.83126	0.0:0.0:0.867:0.133	.	115	Q9P2J9	PDP2_HUMAN	T	115	ENSP00000309548:A115T	ENSP00000309548:A115T	A	+	1	0	PDP2	65476031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.376000	0.52417	1.513000	0.48852	0.650000	0.86243	GCT		0.522	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786	
NF1	4763	broad.mit.edu	37	17	29541476	29541476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:29541476delC	ENST00000358273.4	+	13	1783	c.1400delC	c.(1399-1401)acafs	p.T467fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.T467fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.T467fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	467					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAGTCTTACATTTAAAGAA	0.289			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(5)	p.?(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1399-1401)ACAfs		neurofibromin isoform 1							24.0	25.0	25.0					17																	29541476		2178	4270	6448	SO:0001589	frameshift_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29541476delC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1400delC	17.37:g.29541476delC	ENSP00000351015:p.Thr467fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Frame_Shift_Del_p.T467fs|NF1_uc002hgf.1_Frame_Shift_Del_p.T467fs|NF1_uc002hgh.2_Frame_Shift_Del_p.T467fs|NF1_uc010csn.1_Frame_Shift_Del_p.T327fs	p.T467fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	13	1733	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	467					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.1400delC	CCDS42292.1																																																																																				0.289	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	broad.mit.edu	37	17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:29652976_29652979delTCTC	ENST00000358273.4	+	37	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.FL1658fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.FL1637fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1658	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)	p.S1660fs*37(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|large_intestine(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CD972357	NF1	D		c.(4972-4977)TTTCTCfs		neurofibromin isoform 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29652976_29652979delTCTC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4974_4977delTCTC	17.37:g.29652976_29652979delTCTC	ENSP00000351015:p.Phe1658fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.2_5'UTR	p.F1658fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5307_5310	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1658_1659			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4974_4977delTCTC	CCDS42292.1																																																																																				0.422	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
KRTAP4-7	100132476	broad.mit.edu	37	17	39240729	39240729	+	Missense_Mutation	SNP	A	A	G	rs200532954	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:39240729A>G	ENST00000391417.4	+	1	271	c.271A>G	c.(271-273)Atg>Gtg	p.M91V		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	116	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgtatgtccagctg	0.677													g|||	366	0.0730831	0.0272	0.0663	5008	,	,		17277	0.1012		0.1431	False		,,,				2504	0.0389					uc010wfn.1																			0					0						c.(271-273)ATG>GTG		keratin associated protein 4-7							11.0	17.0	15.0					17																	39240729		684	1582	2266	SO:0001583	missense	100132476							g.chr17:39240729A>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.271A>G	17.37:g.39240729A>G	ENSP00000375236:p.Met91Val						p.M91V	NM_033061	NP_149050					1	271	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.271A>G	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.342089	0.01277	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00567	6.54	3.74	-2.07	0.07276	.	5.393590	0.01146	N	0.006314	T	0.00300	0.0009	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46679	-0.9174	9	0.05959	T	0.93	.	9.7653	0.40557	0.3807:0.0:0.6193:0.0	.	91	Q9BYR0	KRA47_HUMAN	V	91;82	ENSP00000375236:M91V	ENSP00000375236:M91V	M	+	1	0	KRTAP4-9;KRTAP4-7	36494255	0.000000	0.05858	0.006000	0.13384	0.872000	0.50106	-4.081000	0.00299	-0.949000	0.03663	-0.374000	0.07098	ATG		0.677	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:39274150T>A	ENST00000391413.2	-	1	456	c.418A>T	c.(418-420)Agc>Tgc	p.S140C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.S140C(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.672																																						uc002hvz.2																			2	Substitution - Missense(2)		prostate(1)|kidney(1)		0						c.(418-420)AGC>TGC		keratin associated protein 4-11							8.0	13.0	12.0					17																	39274150		686	1587	2273	SO:0001583	missense	653240					keratin filament		g.chr17:39274150T>A	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.418A>T	17.37:g.39274150T>A	ENSP00000375232:p.Ser140Cys						p.S140C	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	457	-		Breast(137;0.000496)	140			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.418A>T	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	6.114	0.389323	0.11581	.	.	ENSG00000212721	ENST00000391413	T	0.00832	5.64	3.95	-4.72	0.03269	.	.	.	.	.	T	0.00178	0.0005	N	0.00010	-3.035	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48139	-0.9061	9	0.02654	T	1	.	4.7994	0.13289	0.3484:0.2238:0.0:0.4278	.	140	Q9BYQ6	KR411_HUMAN	C	140	ENSP00000375232:S140C	ENSP00000375232:S140C	S	-	1	0	KRTAP4-11	36527676	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	0.038000	0.13862	-0.681000	0.05204	-0.924000	0.02725	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
RNF43	54894	broad.mit.edu	37	17	56435337	56435337	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:56435337T>G	ENST00000584437.1	-	8	3755	c.1800A>C	c.(1798-1800)agA>agC	p.R600S	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.R473S|RNF43_ENST00000577716.1_Missense_Mutation_p.R600S|RNF43_ENST00000500597.2_Missense_Mutation_p.R559S|RNF43_ENST00000583753.1_Missense_Mutation_p.R559S|RNF43_ENST00000407977.2_Missense_Mutation_p.R600S|RNF43_ENST00000581868.1_Missense_Mutation_p.R473S			Q68DV7	RNF43_HUMAN	ring finger protein 43	600	Pro-rich.			R -> G (in Ref. 1; BAD51435 and 2; BAA91085). {ECO:0000305}.	negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGAGTTGGATCTGGTGACTT	0.657																																						uc002iwf.2																			0				ovary(1)	1						c.(1798-1800)AGA>AGC		ring finger protein 43 precursor							59.0	72.0	68.0					17																	56435337		2202	4299	6501	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435337T>G		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1800A>C	17.37:g.56435337T>G	ENSP00000463069:p.Arg600Ser					RNF43_uc010wnv.1_Missense_Mutation_p.R559S|RNF43_uc002iwh.3_Missense_Mutation_p.R600S|RNF43_uc002iwg.3_Missense_Mutation_p.R600S|RNF43_uc010dcw.2_Missense_Mutation_p.R473S	p.R600S	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			8	3756	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		600	R -> G (in Ref. 1; BAD51435 and 2; BAA91085).		Pro-rich.|Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1800A>C	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	T	8.127	0.782124	0.16189	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.18502	2.21;2.21	5.18	-1.43	0.08884	.	0.943107	0.08839	N	0.886122	T	0.10252	0.0251	N	0.24115	0.695	0.09310	N	1	B;B;B	0.24426	0.058;0.103;0.02	B;B;B	0.28011	0.04;0.085;0.018	T	0.41627	-0.9498	10	0.27082	T	0.32	-13.166	5.1961	0.15239	0.0:0.4158:0.1732:0.411	.	559;600;600	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	S	600;559	ENSP00000385328:R600S;ENSP00000441969:R559S	ENSP00000385328:R600S	R	-	3	2	RNF43	53790336	0.016000	0.18221	0.000000	0.03702	0.142000	0.21351	-0.113000	0.10774	-0.228000	0.09869	0.172000	0.16884	AGA		0.657	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
RGS9	8787	broad.mit.edu	37	17	63173876	63173876	+	Silent	SNP	C	C	T	rs61739619	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:63173876C>T	ENST00000262406.9	+	9	676	c.609C>T	c.(607-609)taC>taT	p.Y203Y	RGS9_ENST00000443584.3_Silent_p.Y203Y|RGS9_ENST00000449996.3_Silent_p.Y203Y|RGS9_ENST00000577186.1_3'UTR	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	203					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGCTGGACTACGGCCTGGACC	0.488													C|||	9	0.00179712	0.0038	0.0014	5008	,	,		24022	0.0		0.0	False		,,,				2504	0.0031					uc002jfe.2																			0				ovary(2)|skin(2)	4						c.(607-609)TAC>TAT		regulator of G-protein signaling 9 isoform 1		C	,,	8,3910		0,8,1951	224.0	218.0	220.0		609,609,609	-6.0	0.8	17	dbSNP_129	220	0,8312		0,0,4156	no	coding-synonymous,coding-synonymous,coding-synonymous	RGS9	NM_001081955.2,NM_001165933.1,NM_003835.3	,,	0,8,6107	TT,TC,CC		0.0,0.2042,0.0654	,,	203/672,203/485,203/675	63173876	8,12222	1959	4156	6115	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63173876C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.609C>T	17.37:g.63173876C>T						RGS9_uc010dem.2_Silent_p.Y203Y|RGS9_uc002jfd.2_Silent_p.Y203Y|RGS9_uc002jff.2_RNA	p.Y203Y	NM_003835	NP_003826	O75916	RGS9_HUMAN			9	719	+			203					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.609C>T	CCDS42373.1																																																																																				0.488	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835	
CDH7	1005	broad.mit.edu	37	18	63489429	63489429	+	Silent	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr18:63489429A>G	ENST00000397968.2	+	5	1164	c.738A>G	c.(736-738)acA>acG	p.T246T	CDH7_ENST00000536984.2_Silent_p.T246T|CDH7_ENST00000323011.3_Silent_p.T246T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGGAACTACATCAGTCACTG	0.433																																						uc002ljz.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(736-738)ACA>ACG		cadherin 7, type 2 preproprotein							177.0	126.0	144.0					18																	63489429		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63489429A>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.738A>G	18.37:g.63489429A>G						CDH7_uc002lka.2_Silent_p.T246T|CDH7_uc002lkb.2_Silent_p.T246T	p.T246T	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			5	1063	+		Esophageal squamous(42;0.129)	246			Extracellular (Potential).|Cadherin 2.		Q9H157	Silent	SNP	ENST00000397968.2	37	c.738A>G	CCDS11993.1																																																																																				0.433	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
ZNF407	55628	broad.mit.edu	37	18	72775604	72775604	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr18:72775604C>T	ENST00000299687.5	+	8	5927	c.5927C>T	c.(5926-5928)tCg>tTg	p.S1976L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1976					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTAAACCTCTCGGAGGCTGGA	0.617																																						uc002llw.2																			0				ovary(2)	2						c.(5926-5928)TCG>TTG		zinc finger protein 407 isoform 1							14.0	18.0	16.0					18																	72775604		2056	4188	6244	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775604C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5927C>T	18.37:g.72775604C>T	ENSP00000299687:p.Ser1976Leu						p.S1976L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5984	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1976					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.5927C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	7.296	0.611978	0.14066	.	.	ENSG00000215421	ENST00000299687	T	0.11169	2.8	4.73	2.88	0.33553	.	.	.	.	.	T	0.08179	0.0204	L	0.40543	1.245	0.43508	D	0.99576	P	0.44659	0.84	B	0.25614	0.062	T	0.11542	-1.0583	9	0.72032	D	0.01	.	14.5628	0.68153	0.0:0.7208:0.2792:0.0	.	1976	Q9C0G0	ZN407_HUMAN	L	1976	ENSP00000299687:S1976L	ENSP00000299687:S1976L	S	+	2	0	ZNF407	70904592	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.298000	0.19120	-1.999000	0.00967	-2.082000	0.00379	TCG		0.617	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF77	58492	broad.mit.edu	37	19	2933851	2933851	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:2933851A>G	ENST00000314531.4	-	4	1366	c.1274T>C	c.(1273-1275)aTc>aCc	p.I425T		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACGTGGATTCGAAGGGA	0.502																																						uc002lws.3																			0				ovary(1)	1						c.(1273-1275)ATC>ACC		zinc finger protein 77							104.0	84.0	91.0					19																	2933851		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2933851A>G	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1274T>C	19.37:g.2933851A>G	ENSP00000319053:p.Ile425Thr						p.I425T	NM_021217	NP_067040	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1405	-			425			C2H2-type 8.		Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1274T>C	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	A	6.856	0.527183	0.13066	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.17528	2.27	2.97	-2.91	0.05631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	N	0.16743	0.435	0.09310	N	1	B	0.16802	0.019	B	0.10450	0.005	T	0.42464	-0.9450	9	0.11182	T	0.66	.	3.7652	0.08620	0.2531:0.2622:0.0:0.4847	.	425	Q15935	ZNF77_HUMAN	T	219;425	ENSP00000319053:I425T	ENSP00000319053:I425T	I	-	2	0	ZNF77	2884851	0.000000	0.05858	0.000000	0.03702	0.902000	0.53008	-6.272000	0.00073	-0.491000	0.06697	0.397000	0.26171	ATC		0.502	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217	
MAG	4099	broad.mit.edu	37	19	35804318	35804318	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:35804318G>A	ENST00000392213.3	+	11	2001	c.1842G>A	c.(1840-1842)acG>acA	p.T614T	MAG_ENST00000537831.2_Silent_p.T589T|MAG_ENST00000361922.4_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	614				T -> S (in Ref. 2). {ECO:0000305}.	blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACACGCTGACGGAGGAGCTAG	0.657																																						uc002nyy.1																			0				breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(1840-1842)ACG>ACA		myelin associated glycoprotein isoform a							70.0	59.0	63.0					19																	35804318		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35804318G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1842G>A	19.37:g.35804318G>A						MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Silent_p.T589T|MAG_uc002nyz.1_Silent_p.T614T	p.T614T	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	1991	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	614	T -> S (in Ref. 2).		Cytoplasmic (Potential).		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1842G>A	CCDS12455.1																																																																																				0.657	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
IL4I1	259307	broad.mit.edu	37	19	50392981	50392981	+	Silent	SNP	T	T	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:50392981T>G	ENST00000391826.2	-	8	1792	c.1650A>C	c.(1648-1650)ccA>ccC	p.P550P	IL4I1_ENST00000341114.3_Silent_p.P572P|MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000595948.1_Silent_p.P572P	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	550						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GGCCTTGGACTGGAGGGTGGC	0.602																																						uc002pqt.1																			0				lung(1)|ovary(1)|prostate(1)	3						c.(1648-1650)CCA>CCC		interleukin 4 induced 1 isoform 1 precursor							123.0	120.0	121.0					19																	50392981		2203	4300	6503	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50392981T>G	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1650A>C	19.37:g.50392981T>G						IL4I1_uc002pqv.1_Silent_p.P559P|IL4I1_uc010eno.1_Silent_p.P558P|IL4I1_uc002pqw.1_Silent_p.P558P|IL4I1_uc002pqu.1_Silent_p.P572P	p.P550P	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	8	1728	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	550					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.1650A>C	CCDS12787.1																																																																																				0.602	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1		
ADD2	119	broad.mit.edu	37	2	70901894	70901894	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr2:70901894C>T	ENST00000264436.4	-	14	2101	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	ADD2_ENST00000407644.2_Missense_Mutation_p.V553M|ADD2_ENST00000355733.3_Missense_Mutation_p.V553M	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	553					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGTTGGGCACCGTCTCCTCT	0.507																																						uc002sgz.2																			0				ovary(2)|pancreas(1)	3						c.(1657-1659)GTG>ATG		adducin 2 isoform a							263.0	236.0	245.0					2																	70901894		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70901894C>T	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1657G>A	2.37:g.70901894C>T	ENSP00000264436:p.Val553Met					ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.V553M|ADD2_uc002sha.2_Missense_Mutation_p.V247M|ADD2_uc002sgx.2_Missense_Mutation_p.V553M|ADD2_uc010fdt.1_Missense_Mutation_p.V553M	p.V553M	NM_001617	NP_001608	P35612	ADDB_HUMAN			14	2122	-			553					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1657G>A	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574140	0.45902	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000522886;ENST00000356565;ENST00000517596	T;T;T;T	0.24723	3.35;3.35;3.18;1.84	5.73	4.86	0.63082	.	0.566572	0.17666	N	0.166131	T	0.25344	0.0616	N	0.22421	0.69	0.40490	D	0.98053	B;P;B;P	0.47604	0.358;0.814;0.038;0.898	P;B;B;P	0.48166	0.447;0.429;0.066;0.569	T	0.04281	-1.0963	10	0.59425	D	0.04	-12.7149	12.8247	0.57712	0.0:0.9205:0.0:0.0795	.	553;553;553;553	P35612-4;Q05DK5;P35612;P35612-3	.;.;ADDB_HUMAN;.	M	553;553;305;553;247;553;247	ENSP00000264436:V553M;ENSP00000384677:V553M;ENSP00000347972:V553M;ENSP00000430243:V247M	ENSP00000264436:V553M	V	-	1	0	ADD2	70755402	0.000000	0.05858	0.938000	0.37757	0.975000	0.68041	0.486000	0.22340	1.426000	0.47256	0.655000	0.94253	GTG		0.507	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
TTN	7273	broad.mit.edu	37	2	179446906	179446906	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr2:179446906T>C	ENST00000591111.1	-	265	61491	c.61267A>G	c.(61267-61269)Att>Gtt	p.I20423V	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I22064V|TTN_ENST00000342175.6_Missense_Mutation_p.I13191V|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I19496V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I13124V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I12999V|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20423	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTGCTAATAACAGGAGGA	0.418																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(58486-58488)ATT>GTT		titin isoform N2-A							69.0	68.0	69.0					2																	179446906		1866	4124	5990	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446906T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61267A>G	2.37:g.179446906T>C	ENSP00000465570:p.Ile20423Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I13191V|TTN_uc010zfi.1_Missense_Mutation_p.I13124V|TTN_uc010zfj.1_Missense_Mutation_p.I12999V	p.I19496V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		264	58710	-			20423					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.58486A>G		.	.	.	.	.	.	.	.	.	.	T	12.92	2.083157	0.36758	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.68	4.5	0.54988	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25754	0.0627	N	0.03948	-0.315	0.41117	D	0.985785	B;B;B;B	0.17038	0.02;0.02;0.02;0.011	B;B;B;B	0.22601	0.04;0.04;0.04;0.028	T	0.07673	-1.0760	9	0.87932	D	0	.	9.0869	0.36587	0.0:0.1426:0.0:0.8574	.	12999;13124;13191;20423	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	19496;12999;13191;13124;12997	ENSP00000343764:I19496V;ENSP00000434586:I12999V;ENSP00000340554:I13191V;ENSP00000352154:I13124V	ENSP00000340554:I13191V	I	-	1	0	TTN	179155152	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.126000	0.64721	0.947000	0.37659	0.533000	0.62120	ATT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PLCB1	23236	broad.mit.edu	37	20	8628555	8628559	+	Frame_Shift_Del	DEL	AACTT	AACTT	-			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:8628555_8628559delAACTT	ENST00000338037.6	+	6	500_504	c.473_477delAACTT	c.(472-477)aaacttfs	p.KL160fs	PLCB1_ENST00000378637.2_Frame_Shift_Del_p.KL160fs|PLCB1_ENST00000378641.3_Frame_Shift_Del_p.KL160fs	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	160					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCTATACTAAACTTAAGCTGCAAG	0.332																																						uc002wnb.2																			0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(472-477)AAACTTfs		phosphoinositide-specific phospholipase C beta 1																																				SO:0001589	frameshift_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8628555_8628559delAACTT	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.473_477delAACTT	20.37:g.8628555_8628559delAACTT	ENSP00000338185:p.Lys160fs					PLCB1_uc010zrb.1_Frame_Shift_Del_p.K57fs|PLCB1_uc010gbv.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wmz.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wna.2_Frame_Shift_Del_p.K158fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K57fs	p.K158fs	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			6	476_480	+			158_159					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Frame_Shift_Del	DEL	ENST00000338037.6	37	c.473_477delAACTT	CCDS13102.1																																																																																				0.332	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
SSTR4	6754	broad.mit.edu	37	20	23016341	23016341	+	Missense_Mutation	SNP	G	G	A	rs201118880		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:23016341G>A	ENST00000255008.3	+	1	285	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	74					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGATCCTTCGCTACGCCAAG	0.642																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			0				ovary(1)	1						c.(220-222)CGC>CAC		somatostatin receptor 4							123.0	130.0	128.0					20																	23016341		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016341G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.221G>A	20.37:g.23016341G>A	ENSP00000255008:p.Arg74His						p.R74H	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	285	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		74			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.221G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632419	0.67015	.	.	ENSG00000132671	ENST00000255008	T	0.41065	1.01	3.73	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.103006	0.37857	U	0.001917	T	0.50922	0.1644	M	0.77313	2.365	0.39682	D	0.970911	P	0.42409	0.779	P	0.46940	0.532	T	0.58498	-0.7626	10	0.59425	D	0.04	.	11.9567	0.52984	0.0:0.1769:0.8231:0.0	.	74	P31391	SSR4_HUMAN	H	74	ENSP00000255008:R74H	ENSP00000255008:R74H	R	+	2	0	SSTR4	22964341	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	2.492000	0.45311	0.716000	0.32124	0.561000	0.74099	CGC		0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1		
EIF2S2	8894	broad.mit.edu	37	20	32677582	32677582	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:32677582T>C	ENST00000374980.2	-	9	1177	c.956A>G	c.(955-957)cAg>cGg	p.Q319R		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	319					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CGTGACAGCCTGGAAGCCGGT	0.483																																						uc002xaf.2																			0				large_intestine(1)	1						c.(955-957)CAG>CGG		eukaryotic translation initiation factor 2 beta							98.0	83.0	88.0					20																	32677582		2203	4300	6503	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32677582T>C	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.956A>G	20.37:g.32677582T>C	ENSP00000364119:p.Gln319Arg					EIF2S2_uc002xag.2_Missense_Mutation_p.Q316R|EIF2S2_uc010ges.2_Missense_Mutation_p.Q259R	p.Q319R	NM_003908	NP_003899	P20042	IF2B_HUMAN			9	1125	-			319					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.956A>G	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874011	0.91664	.	.	ENSG00000125977	ENST00000374980	T	0.48522	0.81	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	M	0.69248	2.105	0.80722	D	1	D;P;P	0.58970	0.984;0.851;0.851	P;P;P	0.58391	0.808;0.838;0.838	T	0.66296	-0.5959	10	0.62326	D	0.03	-17.7924	16.8061	0.85666	0.0:0.0:0.0:1.0	.	319;319;319	B5BU01;Q6IBR8;P20042	.;.;IF2B_HUMAN	R	319	ENSP00000364119:Q319R	ENSP00000364119:Q319R	Q	-	2	0	EIF2S2	32141243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.005000	0.88553	2.367000	0.80283	0.529000	0.55759	CAG		0.483	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908	
SLC12A5	57468	broad.mit.edu	37	20	44673744	44673744	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:44673744G>A	ENST00000454036.2	+	12	1652	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A512T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	535					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTGCTGCAGGCCATCTCGAG	0.632																																						uc010zxl.1																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1603-1605)GCC>ACC		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						76.0	77.0	76.0					20																	44673744		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44673744G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1603G>A	20.37:g.44673744G>A	ENSP00000387694:p.Ala535Thr					SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.A512T	p.A535T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			12	1679	+		Myeloproliferative disorder(115;0.0122)	535					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1603G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141654	0.94560	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.99051	-5.37;-5.37	4.32	4.32	0.51571	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	H	0.95950	3.745	0.80722	D	1	D;D	0.58620	0.983;0.978	P;P	0.58013	0.831;0.74	D	0.98450	1.0591	10	0.87932	D	0	.	15.5477	0.76118	0.0:0.0:1.0:0.0	.	535;512	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	T	535;512	ENSP00000387694:A535T;ENSP00000243964:A512T	ENSP00000243964:A512T	A	+	1	0	SLC12A5	44107151	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.257000	0.95545	2.225000	0.72522	0.313000	0.20887	GCC		0.632	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
TUBB1	81027	broad.mit.edu	37	20	57599544	57599544	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:57599544C>T	ENST00000217133.1	+	4	1331	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	354					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGGCTGTCTGCGACATCCCGC	0.567																																						uc002yak.2																			0				ovary(1)	1						c.(1060-1062)TGC>TGT		beta tubulin 1, class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						54.0	52.0	53.0					20																	57599544		2203	4300	6503	SO:0001819	synonymous_variant	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599544C>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1062C>T	20.37:g.57599544C>T							p.C354C	NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1331	+	all_lung(29;0.00711)		354						Silent	SNP	ENST00000217133.1	37	c.1062C>T	CCDS13475.1																																																																																				0.567	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773	
DGCR8	54487	broad.mit.edu	37	22	20074008	20074008	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr22:20074008A>G	ENST00000351989.3	+	2	951	c.522A>G	c.(520-522)atA>atG	p.I174M	DGCR8_ENST00000383024.2_Missense_Mutation_p.I174M|MIR3618_ENST00000580330.1_RNA|MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.I174M	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	174	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		I -> V (in dbSNP:rs35987994).		gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGGTAGGCATAGGGGGTGAGA	0.552																																						uc002zri.2																			0					0						c.(520-522)ATA>ATG		DiGeorge syndrome critical region gene 8							138.0	131.0	133.0					22																	20074008		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074008A>G	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.522A>G	22.37:g.20074008A>G	ENSP00000263209:p.Ile174Met					DGCR8_uc010grz.2_Missense_Mutation_p.I174M|DGCR8_uc002zrj.2_5'Flank	p.I174M	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			2	872	+	Colorectal(54;0.0993)		174			Necessary for nuclear localization and retention.|Necessary for interaction with NCL.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.522A>G	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613509	0.28712	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.31247	1.5;1.5;1.5	5.42	4.36	0.52297	.	1.338760	0.04236	N	0.336176	T	0.20495	0.0493	N	0.14661	0.345	0.23889	N	0.996554	B;B	0.24483	0.104;0.018	B;B	0.20955	0.032;0.014	T	0.19614	-1.0300	10	0.40728	T	0.16	5.1326	5.3987	0.16283	0.761:0.0:0.0867:0.1524	.	174;174	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	M	174	ENSP00000263209:I174M;ENSP00000372488:I174M;ENSP00000384726:I174M	ENSP00000263209:I174M	I	+	3	3	DGCR8	18454008	1.000000	0.71417	0.902000	0.35471	0.987000	0.75469	3.490000	0.53245	1.067000	0.40740	0.402000	0.26972	ATA		0.552	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1		
LZTR1	8216	broad.mit.edu	37	22	21340179	21340179	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr22:21340179T>C	ENST00000215739.8	+	3	672	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	105					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGACTGCTCCTGGTGCAGGTG	0.582																																						uc002zto.2																			0		p.W105L(1)		ovary(2)|lung(2)	4						c.(313-315)TGG>CGG		leucine-zipper-like transcription regulator 1							87.0	68.0	75.0					22																	21340179		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21340179T>C	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.313T>C	22.37:g.21340179T>C	ENSP00000215739:p.Trp105Arg					LZTR1_uc002ztn.2_Missense_Mutation_p.W64R|LZTR1_uc011ahy.1_Intron|LZTR1_uc010gsr.1_5'Flank	p.W105R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	416	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	105			Kelch 1.		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.313T>C	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462558	0.84425	.	.	ENSG00000099949	ENST00000539817;ENST00000215739	T	0.63096	-0.02	4.52	4.52	0.55395	.	0.145322	0.53938	D	0.000057	D	0.86552	0.5960	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.90878	0.4751	10	0.87932	D	0	-23.9298	12.1316	0.53946	0.0:0.0:0.0:1.0	.	105;64	Q8N653;F5GXU8	LZTR1_HUMAN;.	R	64;105	ENSP00000215739:W105R	ENSP00000215739:W105R	W	+	1	0	LZTR1	19670179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.669000	0.83911	2.036000	0.60181	0.523000	0.50628	TGG		0.582	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
OR5H2	79310	broad.mit.edu	37	3	98002586	98002586	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:98002586C>T	ENST00000355273.2	+	1	855	c.855C>T	c.(853-855)atC>atT	p.I285I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTATACAATCATAATTCCTT	0.328																																						uc003dsj.1																			0				ovary(3)	3						c.(853-855)ATC>ATT		olfactory receptor, family 5, subfamily H,							54.0	52.0	53.0					3																	98002586		2203	4300	6503	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002586C>T		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.855C>T	3.37:g.98002586C>T							p.I285I	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	855	+			285			Helical; Name=7; (Potential).		Q6IF87	Silent	SNP	ENST00000355273.2	37	c.855C>T	CCDS33801.1																																																																																				0.328	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		
HCLS1	3059	broad.mit.edu	37	3	121350755	121350755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:121350755G>A	ENST00000314583.3	-	14	1490	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	HCLS1_ENST00000428394.2_Missense_Mutation_p.R430W|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	467	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CAACGTCCCCGCCACCAGCCC	0.507																																						uc003eeh.3																			0					0						c.(1399-1401)CGG>TGG		hematopoietic cell-specific Lyn substrate 1							134.0	131.0	132.0					3																	121350755		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121350755G>A		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1399C>T	3.37:g.121350755G>A	ENSP00000320176:p.Arg467Trp					HCLS1_uc011bjj.1_Missense_Mutation_p.R430W	p.R467W	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	14	1524	-			467			SH3.		B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1399C>T	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271398	0.59649	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.52526	0.66;0.66	5.53	4.63	0.57726	Src homology-3 domain (5);	0.253240	0.41396	D	0.000893	T	0.54870	0.1885	L	0.39514	1.22	0.44409	D	0.997329	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.56667	-0.7941	10	0.87932	D	0	-15.3751	7.2841	0.26328	0.0858:0.0:0.7456:0.1686	.	430;467	E7EVW7;P14317	.;HCLS1_HUMAN	W	467;430	ENSP00000320176:R467W;ENSP00000387645:R430W	ENSP00000320176:R467W	R	-	1	2	HCLS1	122833445	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.040000	0.49799	2.607000	0.88179	0.563000	0.77884	CGG		0.507	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
GOLGB1	2804	broad.mit.edu	37	3	121413146	121413146	+	Missense_Mutation	SNP	C	C	T	rs372538328		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:121413146C>T	ENST00000340645.5	-	13	6334	c.6209G>A	c.(6208-6210)cGc>cAc	p.R2070H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R2075H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2070					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCCTTTTTGCGGTGTTCAAC	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20728	0.0		0.0	False		,,,				2504	0.0					uc003eei.3																			0				ovary(6)|breast(2)|skin(2)	10						c.(6208-6210)CGC>CAC		golgi autoantigen, golgin subfamily b,							120.0	121.0	121.0					3																	121413146		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413146C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6209G>A	3.37:g.121413146C>T	ENSP00000341848:p.Arg2070His					GOLGB1_uc010hrc.2_Missense_Mutation_p.R2075H|GOLGB1_uc003eej.3_Missense_Mutation_p.R2036H|GOLGB1_uc011bjm.1_Missense_Mutation_p.R1956H|GOLGB1_uc010hrd.1_Missense_Mutation_p.R2034H	p.R2070H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	6335	-			2070			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.6209G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	2.220	-0.378704	0.05000	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14640	2.49;2.49	5.83	1.57	0.23409	.	0.492300	0.19129	N	0.121975	T	0.08313	0.0207	L	0.38838	1.175	0.09310	N	1	B;B;B;B	0.17268	0.007;0.007;0.008;0.021	B;B;B;B	0.13407	0.004;0.009;0.003;0.004	T	0.36335	-0.9752	10	0.13853	T	0.58	.	5.0103	0.14310	0.0:0.4833:0.2459:0.2708	.	1995;2075;2075;2070	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	H	2070;2075	ENSP00000341848:R2070H;ENSP00000377275:R2075H	ENSP00000341848:R2070H	R	-	2	0	GOLGB1	122895836	0.026000	0.19158	0.831000	0.32960	0.494000	0.33585	0.536000	0.23129	0.725000	0.32318	0.591000	0.81541	CGC		0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
ABTB1	80325	broad.mit.edu	37	3	127396603	127396603	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:127396603G>T	ENST00000232744.8	+	10	1032	c.946G>T	c.(946-948)Ggc>Tgc	p.G316C	ABTB1_ENST00000468137.1_Missense_Mutation_p.G174C|ABTB1_ENST00000393363.3_Missense_Mutation_p.G174C|ABTB1_ENST00000453791.2_Missense_Mutation_p.G174C					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GACCTCAGGGGGCCCCCCAGC	0.642																																						uc003ejt.2																			0					0						c.(946-948)GGC>TGC		ankyrin repeat and BTB (POZ) domain containing 1							29.0	30.0	30.0					3																	127396603		2202	4299	6501	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127396603G>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.946G>T	3.37:g.127396603G>T	ENSP00000232744:p.Gly316Cys					ABTB1_uc003ejr.2_Missense_Mutation_p.G174C|ABTB1_uc003ejs.2_Missense_Mutation_p.G291C|ABTB1_uc003eju.2_Missense_Mutation_p.G174C|ABTB1_uc010hsm.2_Missense_Mutation_p.G43C	p.G316C	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			10	1034	+			316			BTB 2.			Missense_Mutation	SNP	ENST00000232744.8	37	c.946G>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688008	0.29962	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.62364	0.03;0.27;0.03;0.03	5.17	3.3	0.37823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.294054	0.41500	D	0.000880	T	0.69097	0.3073	L	0.53249	1.67	0.26216	N	0.979224	D;P;P	0.76494	0.999;0.828;0.853	D;P;B	0.68353	0.957;0.526;0.371	T	0.59434	-0.7455	10	0.56958	D	0.05	-2.9996	6.4167	0.21719	0.4631:0.0:0.5369:0.0	.	152;316;291	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	C	152;174;316;174;174	ENSP00000377030:G174C;ENSP00000232744:G316C;ENSP00000412684:G174C;ENSP00000417366:G174C	ENSP00000232744:G316C	G	+	1	0	ABTB1	128879293	0.998000	0.40836	0.010000	0.14722	0.013000	0.08279	2.964000	0.49192	0.505000	0.28104	0.591000	0.81541	GGC		0.642	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027	
EPHB1	2047	broad.mit.edu	37	3	134967277	134967277	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:134967277G>A	ENST00000398015.3	+	14	2986	c.2616G>A	c.(2614-2616)gcG>gcA	p.A872A	EPHB1_ENST00000493838.1_Silent_p.A433A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	872	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCCGGTTTGCGGAGATTGTCA	0.582																																						uc003eqt.2																			0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2614-2616)GCG>GCA		ephrin receptor EphB1 precursor							34.0	40.0	38.0					3																	134967277		2197	4300	6497	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967277G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2616G>A	3.37:g.134967277G>A						EPHB1_uc003equ.2_Silent_p.A433A	p.A872A	NM_004441	NP_004432	P54762	EPHB1_HUMAN			14	2836	+			872			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2616G>A	CCDS46921.1																																																																																				0.582	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
ZIC4	84107	broad.mit.edu	37	3	147108751	147108751	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:147108751G>A	ENST00000383075.3	-	4	1483	c.971C>T	c.(970-972)gCg>gTg	p.A324V	ZIC4_ENST00000491672.1_Missense_Mutation_p.A118V|ZIC4_ENST00000484399.1_Missense_Mutation_p.A324V|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.A362V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A374V|ZIC4_ENST00000473123.1_Missense_Mutation_p.A324V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	324						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCCGCCACCGCCGCCGAGGA	0.706																																						uc003ewd.1																			0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(970-972)GCG>GTG		zinc finger protein of the cerebellum 4							14.0	18.0	17.0					3																	147108751		2020	4143	6163	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108751G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.971C>T	3.37:g.147108751G>A	ENSP00000372553:p.Ala324Val					ZIC4_uc003ewc.1_Missense_Mutation_p.A254V|ZIC4_uc011bno.1_Missense_Mutation_p.A374V	p.A324V	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	1244	-			324					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.971C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827140	0.71143	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.12361	2.78;2.7;2.69;2.78;2.78;2.8	4.65	3.7	0.42460	.	0.323996	0.22159	N	0.063818	T	0.15003	0.0362	L	0.59436	1.845	0.30637	N	0.7568360000000001	B;B	0.21688	0.059;0.024	B;B	0.10450	0.005;0.003	T	0.08868	-1.0701	9	0.62326	D	0.03	.	11.368	0.49684	0.0:0.127:0.7294:0.1436	.	374;324	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	V	324;362;374;324;324;118	ENSP00000372553:A324V;ENSP00000397695:A362V;ENSP00000435509:A374V;ENSP00000417855:A324V;ENSP00000420775:A324V;ENSP00000418277:A118V	ENSP00000372553:A324V	A	-	2	0	ZIC4	148591441	0.914000	0.31030	1.000000	0.80357	0.963000	0.63663	2.423000	0.44705	2.406000	0.81754	0.561000	0.74099	GCG		0.706	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1		
GAK	2580	broad.mit.edu	37	4	864620	864620	+	Silent	SNP	C	C	T	rs377594780		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:864620C>T	ENST00000314167.4	-	19	2237	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.V630V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	709	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCCTGGGCTCCACCTCCACTT	0.557																																						uc003gbm.3																			0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(2125-2127)GTG>GTA		cyclin G associated kinase		C		0,4406		0,0,2203	72.0	75.0	74.0		2127	3.9	1.0	4		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GAK	NM_005255.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		709/1312	864620	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:864620C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2127G>A	4.37:g.864620C>T						GAK_uc003gbn.3_Silent_p.V630V|GAK_uc010ibk.1_Silent_p.V603V|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Silent_p.V573V	p.V709V	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	19	2326	-			709			C2 tensin-type.		Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	c.2127G>A	CCDS3340.1																																																																																				0.557	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	
ATP8A1	10396	broad.mit.edu	37	4	42505527	42505527	+	Missense_Mutation	SNP	G	G	C	rs202148347		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:42505527G>C	ENST00000381668.5	-	24	2322	c.2091C>G	c.(2089-2091)caC>caG	p.H697Q	ATP8A1_ENST00000264449.10_Missense_Mutation_p.H682Q	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	697					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTTTGCAGGAGTGTCCTGTAT	0.274																																						uc003gwr.2																			0				skin(2)|central_nervous_system(1)	3						c.(2089-2091)CAC>CAG		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						58.0	64.0	62.0					4																	42505527		2203	4295	6498	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42505527G>C	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2091C>G	4.37:g.42505527G>C	ENSP00000371084:p.His697Gln					ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Missense_Mutation_p.H682Q	p.H697Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			24	2323	-			697			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.2091C>G	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991162	0.35131	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.82803	-1.65;-1.65	5.53	1.86	0.25419	HAD-like domain (2);	0.053817	0.85682	D	0.000000	T	0.79862	0.4519	L	0.38175	1.15	0.80722	D	1	P;B	0.44986	0.847;0.061	P;B	0.49887	0.625;0.063	T	0.77550	-0.2546	10	0.59425	D	0.04	.	10.2742	0.43499	0.3916:0.0:0.6084:0.0	.	682;697	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	Q	697;682	ENSP00000371084:H697Q;ENSP00000264449:H682Q	ENSP00000264449:H682Q	H	-	3	2	ATP8A1	42200284	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.125000	0.31332	0.314000	0.23086	0.591000	0.81541	CAC		0.274	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
SLC4A4	8671	broad.mit.edu	37	4	72316924	72316924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:72316924G>A	ENST00000264485.5	+	11	1345	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.G366R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G410R|SLC4A4_ENST00000340595.3_Missense_Mutation_p.G366R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.G410R	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	410					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GTACTCAGGTGGAGAGAATGT	0.443																																						uc003hfy.2																			0				ovary(3)|kidney(1)|skin(1)	5						c.(1228-1230)GGA>AGA		solute carrier family 4, sodium bicarbonate							166.0	144.0	152.0					4																	72316924		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72316924G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1228G>A	4.37:g.72316924G>A	ENSP00000264485:p.Gly410Arg					SLC4A4_uc010iic.2_Missense_Mutation_p.G410R|SLC4A4_uc010iib.2_Missense_Mutation_p.G410R|SLC4A4_uc003hfz.2_Missense_Mutation_p.G410R|SLC4A4_uc003hgc.3_Missense_Mutation_p.G366R|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.G288R|SLC4A4_uc003hgb.3_Missense_Mutation_p.G366R	p.G410R	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	1345	+			410			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1228G>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856901	0.71834	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.77358	-1.08;-1.09;-0.7;0.1;-1.08	5.7	5.7	0.88788	Bicarbonate transporter, cytoplasmic (1);	0.048003	0.85682	D	0.000000	D	0.83727	0.5317	M	0.76328	2.33	0.80722	D	1	B;P;B;P;B;B	0.50443	0.399;0.935;0.323;0.847;0.157;0.263	B;P;B;P;B;B	0.52909	0.194;0.713;0.361;0.691;0.096;0.14	T	0.79605	-0.1734	10	0.14252	T	0.57	.	19.8314	0.96638	0.0:0.0:1.0:0.0	.	410;410;366;366;390;410	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	R	410;410;410;366;366	ENSP00000264485:G410R;ENSP00000393557:G410R;ENSP00000307349:G410R;ENSP00000422400:G366R;ENSP00000344272:G366R	ENSP00000264485:G410R	G	+	1	0	SLC4A4	72535788	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.382000	0.97209	2.675000	0.91044	0.655000	0.94253	GGA		0.443	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
PPEF2	5470	broad.mit.edu	37	4	76797562	76797562	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:76797562G>A	ENST00000286719.7	-	11	1554	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	400	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCGGCACCGCTCTAGCTCC	0.667																																					NSCLC(105;1359 1603 15961 44567 47947)	uc003hix.2																			0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1198-1200)CGG>TGG		serine/threonine protein phosphatase with							28.0	31.0	30.0					4																	76797562		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76797562G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1198C>T	4.37:g.76797562G>A	ENSP00000286719:p.Arg400Trp					PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.R400W	p.R400W	NM_006239	NP_006230	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		11	1555	-			400			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1198C>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571046	0.45798	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.42900	0.96	4.94	0.342	0.15996	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	5.288820	0.00706	N	0.000815	T	0.34832	0.0911	L	0.38531	1.155	0.09310	N	1	B;B	0.18741	0.03;0.009	B;B	0.12156	0.007;0.006	T	0.18808	-1.0325	10	0.46703	T	0.11	-0.3815	6.1948	0.20544	0.0:0.1947:0.4052:0.4001	.	400;400	O14830-2;O14830	.;PPE2_HUMAN	W	400	ENSP00000286719:R400W	ENSP00000286719:R400W	R	-	1	2	PPEF2	77016586	0.000000	0.05858	0.030000	0.17652	0.389000	0.30415	0.233000	0.17911	-0.173000	0.10761	0.491000	0.48974	CGG		0.667	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
SHROOM3	57619	broad.mit.edu	37	4	77661370	77661370	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:77661370C>T	ENST00000296043.6	+	5	2997	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	682					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGCTAGGCCGGGGAACCCA	0.607																																						uc011cbx.1																			0				skin(2)|ovary(1)	3						c.(2044-2046)CGG>TGG		shroom family member 3 protein							45.0	57.0	53.0					4																	77661370		2202	4300	6502	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661370C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2044C>T	4.37:g.77661370C>T	ENSP00000296043:p.Arg682Trp					SHROOM3_uc011cbz.1_Missense_Mutation_p.R506W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R557W|SHROOM3_uc003hkg.2_Missense_Mutation_p.R460W	p.R682W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	2997	+			682					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2044C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815028	0.50527	.	.	ENSG00000138771	ENST00000296043	T	0.31769	1.48	5.41	3.68	0.42216	.	1.952470	0.02045	N	0.049614	T	0.26738	0.0654	N	0.22421	0.69	0.09310	N	1	B;B;B	0.17268	0.008;0.021;0.004	B;B;B	0.09377	0.004;0.003;0.003	T	0.27872	-1.0061	10	0.66056	D	0.02	-1.1603	9.3023	0.37853	0.0788:0.1512:0.77:0.0	.	506;682;460	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	W	682	ENSP00000296043:R682W	ENSP00000296043:R682W	R	+	1	2	SHROOM3	77880394	0.481000	0.25941	0.002000	0.10522	0.007000	0.05969	0.946000	0.29069	0.651000	0.30788	-0.344000	0.07964	CGG		0.607	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
CCSER1	401145	broad.mit.edu	37	4	91321221	91321221	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:91321221A>G	ENST00000509176.1	+	4	1832	c.1544A>G	c.(1543-1545)gAt>gGt	p.D515G	CCSER1_ENST00000432775.2_Missense_Mutation_p.D515G|CCSER1_ENST00000333691.8_Missense_Mutation_p.D515G	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	515																	TGTGAACTGGATGAAGATGAT	0.333																																						uc003hsv.3																			0				large_intestine(1)|ovary(1)	2						c.(1543-1545)GAT>GGT		KIAA1680 protein isoform 1							204.0	173.0	182.0					4																	91321221		1851	4110	5961	SO:0001583	missense	401145							g.chr4:91321221A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1544A>G	4.37:g.91321221A>G	ENSP00000425040:p.Asp515Gly					FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.D515G	p.D515G	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			4	1884	+			515					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1544A>G	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072071	0.76415	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.55234	0.98;0.53;0.98	4.59	4.59	0.56863	.	0.136013	0.46145	D	0.000309	T	0.64560	0.2609	L	0.43152	1.355	0.40994	D	0.984876	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.69072	-0.5242	10	0.87932	D	0	-23.0461	13.6413	0.62253	1.0:0.0:0.0:0.0	.	515;515	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	G	515	ENSP00000425040:D515G;ENSP00000389283:D515G;ENSP00000329482:D515G	ENSP00000329482:D515G	D	+	2	0	FAM190A	91540244	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.549000	0.73900	2.014000	0.59158	0.383000	0.25322	GAT		0.333	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
CTNND2	1501	broad.mit.edu	37	5	11565132	11565132	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:11565132C>T	ENST00000304623.8	-	3	400	c.211G>A	c.(211-213)Gct>Act	p.A71T	CTNND2_ENST00000359640.2_Missense_Mutation_p.A71T|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	71					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCCGTTCAGCCTCCAGCTCT	0.502																																						uc003jfa.1																			0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(211-213)GCT>ACT		catenin (cadherin-associated protein), delta 2							87.0	70.0	76.0					5																	11565132		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11565132C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.211G>A	5.37:g.11565132C>T	ENSP00000307134:p.Ala71Thr					CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.A71T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			3	356	-			71			Potential.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.211G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468860	0.84533	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000502551;ENST00000508761	T;T	0.77750	-1.05;-1.12	5.77	4.9	0.64082	.	0.000000	0.64402	D	0.000012	T	0.66790	0.2825	L	0.29908	0.895	0.80722	D	1	P	0.38922	0.651	B	0.35859	0.212	T	0.66590	-0.5885	10	0.33940	T	0.23	-9.119	14.7597	0.69596	0.0:0.845:0.155:0.0	.	71	Q9UQB3	CTND2_HUMAN	T	71;71;57;57	ENSP00000307134:A71T;ENSP00000352661:A71T	ENSP00000307134:A71T	A	-	1	0	CTNND2	11618132	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.389000	0.79806	1.563000	0.49615	0.655000	0.94253	GCT		0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
PIK3R1	5295	broad.mit.edu	37	5	67591125	67591125	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:67591125T>C	ENST00000521381.1	+	13	2334	c.1718T>C	c.(1717-1719)cTg>cCg	p.L573P	PIK3R1_ENST00000523872.1_Missense_Mutation_p.L210P|PIK3R1_ENST00000521657.1_Missense_Mutation_p.L573P|PIK3R1_ENST00000336483.5_Missense_Mutation_p.L303P|PIK3R1_ENST00000274335.5_Missense_Mutation_p.L573P|PIK3R1_ENST00000320694.8_Missense_Mutation_p.L273P|PIK3R1_ENST00000396611.1_Missense_Mutation_p.L573P	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	573					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L573P(2)|p.L303P(2)|p.L273P(2)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CTTATCCAGCTGAGAAAGACG	0.383			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		9	Substitution - Missense(6)|Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.L570_D578del(1)|p.?(1)	endometrium(6)|large_intestine(1)|lung(1)|ovary(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1717-1719)CTG>CCG		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						144.0	142.0	143.0					5																	67591125		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591125T>C	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1718T>C	5.37:g.67591125T>C	ENSP00000428056:p.Leu573Pro	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.L573P|PIK3R1_uc003jvc.2_Missense_Mutation_p.L273P|PIK3R1_uc003jvd.2_Missense_Mutation_p.L303P|PIK3R1_uc003jve.2_Missense_Mutation_p.L252P|PIK3R1_uc011crb.1_Missense_Mutation_p.L243P	p.L573P	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2278	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	573					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1718T>C	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354948	0.82243	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.989;0.997;0.992;0.992	T	0.70586	-0.4831	10	0.87932	D	0	-10.8803	14.6505	0.68794	0.0:0.0:0.0:1.0	.	243;303;273;573	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	P	573;573;573;573;273;303;210	ENSP00000428056:L573P;ENSP00000429277:L573P;ENSP00000379855:L573P;ENSP00000274335:L573P;ENSP00000323512:L273P;ENSP00000338554:L303P;ENSP00000430098:L210P	ENSP00000274335:L573P	L	+	2	0	PIK3R1	67626881	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.825000	0.86693	2.103000	0.63969	0.477000	0.44152	CTG		0.383	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PRR16	51334	broad.mit.edu	37	5	120021968	120021968	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:120021968C>A	ENST00000407149.2	+	2	688	c.479C>A	c.(478-480)cCa>cAa	p.P160Q	PRR16_ENST00000379551.2_Missense_Mutation_p.P137Q|PRR16_ENST00000446965.1_Missense_Mutation_p.P90Q|PRR16_ENST00000505123.1_Missense_Mutation_p.P90Q			Q569H4	LARGN_HUMAN	proline rich 16	160	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.P137Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GGAGGCTTACCAGGTGGACCT	0.468																																						uc003ksq.2																			1	Substitution - Missense(1)		large_intestine(1)	pancreas(2)|ovary(1)	3						c.(478-480)CCA>CAA		proline rich 16							68.0	62.0	64.0					5																	120021968		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120021968C>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.479C>A	5.37:g.120021968C>A	ENSP00000385118:p.Pro160Gln					PRR16_uc003ksp.2_Missense_Mutation_p.P137Q|PRR16_uc003ksr.2_Missense_Mutation_p.P90Q	p.P160Q	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	642	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	160			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.479C>A		.	.	.	.	.	.	.	.	.	.	C	14.76	2.631842	0.46944	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.63417	0.03;-0.04;0.46;0.34;0.34	5.6	3.71	0.42584	.	0.119053	0.56097	D	0.000022	T	0.54743	0.1877	L	0.58101	1.795	0.09310	N	1	B;B	0.22346	0.004;0.068	B;B	0.23419	0.008;0.046	T	0.44267	-0.9339	9	.	.	.	-1.2014	8.9386	0.35715	0.1783:0.745:0.0:0.0768	.	160;137	Q569H4;Q569H4-3	PRR16_HUMAN;.	Q	160;137;90;90;90	ENSP00000385118:P160Q;ENSP00000368869:P137Q;ENSP00000421256:P90Q;ENSP00000423446:P90Q;ENSP00000405491:P90Q	.	P	+	2	0	PRR16	120049867	0.290000	0.24343	0.005000	0.12908	0.978000	0.69477	2.604000	0.46274	0.598000	0.29829	0.644000	0.83932	CCA		0.468	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644	
SGCD	6444	broad.mit.edu	37	5	156186311	156186311	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:156186311C>T	ENST00000435422.3	+	8	1267	c.780C>T	c.(778-780)ttC>ttT	p.F260F	SGCD_ENST00000337851.4_Silent_p.F261F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	260					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.F261L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGTCTTCGAGATCTGCG	0.488																																						uc003lwd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)TTC>TTT		delta-sarcoglycan isoform 3							130.0	125.0	127.0					5																	156186311		1968	4175	6143	SO:0001819	synonymous_variant	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186311C>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.780C>T	5.37:g.156186311C>T						SGCD_uc003lwc.3_Silent_p.F261F	p.F260F	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1256	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	260			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Silent	SNP	ENST00000435422.3	37	c.780C>T	CCDS47327.1																																																																																				0.488	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3		
ADAMTS2	9509	broad.mit.edu	37	5	178552111	178552111	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:178552111G>A	ENST00000251582.7	-	19	2922	c.2821C>T	c.(2821-2823)Cgc>Tgc	p.R941C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	941	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAATGCAGCGCACGGAGCGC	0.692																																						uc003mjw.2																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2821-2823)CGC>TGC		ADAM metallopeptidase with thrombospondin type 1							107.0	107.0	107.0					5																	178552111		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552111G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2821C>T	5.37:g.178552111G>A	ENSP00000251582:p.Arg941Cys						p.R941C	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2821	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	941			TSP type-1 3.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2821C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309006	0.60414	.	.	ENSG00000087116	ENST00000251582	T	0.55234	0.53	5.31	5.31	0.75309	.	0.221905	0.31922	N	0.006848	T	0.77343	0.4116	H	0.95328	3.655	0.80722	D	1	D	0.71674	0.998	P	0.61070	0.883	D	0.83742	0.0204	10	0.66056	D	0.02	.	12.9982	0.58660	0.0:0.0:0.8387:0.1613	.	941	O95450	ATS2_HUMAN	C	941	ENSP00000251582:R941C	ENSP00000251582:R941C	R	-	1	0	ADAMTS2	178484717	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	4.090000	0.57693	2.481000	0.83766	0.655000	0.94253	CGC		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
GMDS	2762	broad.mit.edu	37	6	1930436	1930436	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:1930436G>A	ENST00000380815.4	-	7	941	c.672C>T	c.(670-672)agC>agT	p.S224S	GMDS_ENST00000530927.1_Silent_p.S194S	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	224					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTACTGACCGGCTAATTTTTC	0.428																																						uc003mtq.2																			0				central_nervous_system(1)	1						c.(670-672)AGC>AGT		GDP-mannose 4,6-dehydratase							94.0	87.0	89.0					6																	1930436		2203	4300	6503	SO:0001819	synonymous_variant	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1930436G>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.672C>T	6.37:g.1930436G>A							p.S224S	NM_001500	NP_001491	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	7	862	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	224					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Silent	SNP	ENST00000380815.4	37	c.672C>T	CCDS4474.1																																																																																				0.428	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3		
ZSCAN23	222696	broad.mit.edu	37	6	28402496	28402496	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:28402496G>C	ENST00000289788.4	-	4	1061	c.916C>G	c.(916-918)Cag>Gag	p.Q306E	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	306					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						ACACTGCACTGGTAGCGCTTC	0.542																																						uc003nli.3																			0					0						c.(916-918)CAG>GAG		zinc finger protein 390							69.0	63.0	65.0					6																	28402496		692	1591	2283	SO:0001583	missense	222696				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28402496G>C	AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"""-"", ""Zinc fingers, C2H2-type"""	21193	protein-coding gene	gene with protein product			"""zinc finger protein 453"", ""zinc finger protein 390"""	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.916C>G	6.37:g.28402496G>C	ENSP00000289788:p.Gln306Glu					ZSCAN23_uc003nlh.2_RNA|ZSCAN23_uc010jrf.1_RNA|ZSCAN23_uc011dli.1_3'UTR	p.Q306E	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN			4	1097	-			306			C2H2-type 3.		Q96KV9	Missense_Mutation	SNP	ENST00000289788.4	37	c.916C>G	CCDS47393.1	.	.	.	.	.	.	.	.	.	.	G	9.659	1.143584	0.21205	.	.	ENSG00000187987	ENST00000289788	T	0.15487	2.42	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38058	N	0.001836	T	0.07638	0.0192	L	0.35793	1.09	0.21290	N	0.999735	D	0.53312	0.959	P	0.54544	0.755	T	0.08576	-1.0715	10	0.02654	T	1	.	9.5495	0.39301	0.0:0.0:0.7903:0.2097	.	306	Q3MJ62	ZSC23_HUMAN	E	306	ENSP00000289788:Q306E	ENSP00000289788:Q306E	Q	-	1	0	ZSCAN23	28510475	0.000000	0.05858	0.999000	0.59377	0.979000	0.70002	-0.355000	0.07671	2.219000	0.72066	0.650000	0.86243	CAG		0.542	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043751.2	XM_167147	
PPP1R10	5514	broad.mit.edu	37	6	30570090	30570090	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:30570090C>T	ENST00000376511.2	-	19	2888	c.2336G>A	c.(2335-2337)aGt>aAt	p.S779N		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	779	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCGATGCCCACTTCCCATGCC	0.672																																						uc003nqn.1																			0				ovary(2)|lung(1)|kidney(1)	4						c.(2335-2337)AGT>AAT		protein phosphatase 1, regulatory subunit 10							160.0	171.0	167.0					6																	30570090		1511	2709	4220	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570090C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2336G>A	6.37:g.30570090C>T	ENSP00000365694:p.Ser779Asn					PPP1R10_uc010jsc.1_Missense_Mutation_p.S433N	p.S779N	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			19	2888	-			779			Gly-rich.		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.2336G>A	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109160	0.20714	.	.	ENSG00000204569	ENST00000376511	T	0.56941	0.43	2.09	2.09	0.27110	.	0.273852	0.26635	N	0.023293	T	0.13756	0.0333	N	0.08118	0	0.25064	N	0.991047	B	0.20261	0.043	B	0.14023	0.01	T	0.23190	-1.0195	10	0.32370	T	0.25	-0.2633	11.9186	0.52779	0.0:1.0:0.0:0.0	.	779	Q96QC0	PP1RA_HUMAN	N	779	ENSP00000365694:S779N	ENSP00000365694:S779N	S	-	2	0	PPP1R10	30678069	0.020000	0.18652	0.981000	0.43875	0.939000	0.58152	1.434000	0.34958	1.482000	0.48325	0.491000	0.48974	AGT		0.672	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714	
PNISR	25957	broad.mit.edu	37	6	99856145	99856145	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:99856145C>T	ENST00000369239.5	-	7	880	c.676G>A	c.(676-678)Gca>Aca	p.A226T	PNISR_ENST00000438806.1_Missense_Mutation_p.A226T	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	226						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CGTTTTACTGCGTCTGTTTCA	0.358																																						uc003ppo.3																			0					0						c.(676-678)GCA>ACA		splicing factor, arginine/serine-rich 130							74.0	69.0	71.0					6																	99856145		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99856145C>T	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.676G>A	6.37:g.99856145C>T	ENSP00000358242:p.Ala226Thr					SFRS18_uc003ppp.3_Missense_Mutation_p.A226T|SFRS18_uc011eag.1_Missense_Mutation_p.A226T|SFRS18_uc003ppr.2_Missense_Mutation_p.A226T	p.A226T	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0631)	7	904	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	226					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.676G>A	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941009	0.92526	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.48522	0.81;0.81	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60556	-0.7240	10	0.49607	T	0.09	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	226	Q8TF01	PNISR_HUMAN	T	226	ENSP00000358242:A226T;ENSP00000387997:A226T	ENSP00000358242:A226T	A	-	1	0	PNISR	99962866	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.445000	0.80570	2.937000	0.99478	0.650000	0.86243	GCA		0.358	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870	
ATG5	9474	broad.mit.edu	37	6	106764059	106764059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:106764059G>A	ENST00000369076.3	-	2	348	c.25C>T	c.(25-27)Cga>Tga	p.R9*	ATG5_ENST00000369070.1_5'UTR|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R9*|ATG5_ENST00000343245.3_Nonsense_Mutation_p.R9*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	9					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CACACATCTCGAAGCACATCT	0.368																																						uc003prf.2																			0				large_intestine(1)	1						c.(25-27)CGA>TGA		APG5 autophagy 5-like							212.0	192.0	199.0					6																	106764059		2203	4300	6503	SO:0001587	stop_gained	9474				apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr6:106764059G>A	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.25C>T	6.37:g.106764059G>A	ENSP00000358072:p.Arg9*					ATG5_uc010kdb.2_Nonsense_Mutation_p.R9*|ATG5_uc003prg.2_5'UTR|ATG5_uc010kdc.2_Nonsense_Mutation_p.R9*	p.R9*	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)	2	378	-	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	9					O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Nonsense_Mutation	SNP	ENST00000369076.3	37	c.25C>T	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	G	38	6.888696	0.97912	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000360666	.	.	.	5.15	3.27	0.37495	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9696	7.0972	0.25317	0.1538:0.0:0.7123:0.1339	.	.	.	.	X	9	.	ENSP00000343313:R9X	R	-	1	2	ATG5	106870752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.884000	0.63135	1.088000	0.41272	0.655000	0.94253	CGA		0.368	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849	
TXLNB	167838	broad.mit.edu	37	6	139564240	139564240	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:139564240A>T	ENST00000358430.3	-	10	1710	c.1478T>A	c.(1477-1479)gTt>gAt	p.V493D	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	493						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GACACTATTAACCTCCTCTGC	0.478																																						uc011eds.1																			0				large_intestine(1)|ovary(1)	2						c.(1477-1479)GTT>GAT		taxilin beta							114.0	119.0	118.0					6																	139564240		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139564240A>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1478T>A	6.37:g.139564240A>T	ENSP00000351206:p.Val493Asp						p.V493D	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	1643	-			493					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.1478T>A	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.176145	0.38413	.	.	ENSG00000164440	ENST00000358430	T	0.14766	2.48	6.06	-2.93	0.05598	.	1.825690	0.01935	N	0.041462	T	0.02119	0.0066	N	0.19112	0.55	0.09310	N	1	B	0.31125	0.309	B	0.23574	0.047	T	0.32903	-0.9889	9	.	.	.	0.7695	7.2319	0.26046	0.4487:0.1928:0.3586:0.0	.	493	Q8N3L3	TXLNB_HUMAN	D	493	ENSP00000351206:V493D	.	V	-	2	0	TXLNB	139605933	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.026000	0.13599	-1.052000	0.03222	-0.408000	0.06270	GTT		0.478	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235	
PRPS1L1	221823	broad.mit.edu	37	7	18066565	18066565	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:18066565T>C	ENST00000506618.2	-	1	921	c.841A>G	c.(841-843)Atg>Gtg	p.M281V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	281					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CAATGCTTCATCTTCTCATCT	0.438																																						uc003stz.2																			0				ovary(1)	1						c.(841-843)ATG>GTG		phosphoribosyl pyrophosphate synthetase 1-like							195.0	195.0	195.0					7																	18066565		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066565T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.841A>G	7.37:g.18066565T>C	ENSP00000424595:p.Met281Val						p.M281V	NM_175886	NP_787082	P21108	PRPS3_HUMAN			1	922	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		281					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.841A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	6.773	0.511497	0.12944	.	.	ENSG00000229937	ENST00000506618	T	0.70869	-0.52	4.44	2.02	0.26589	.	.	.	.	.	T	0.56232	0.1971	L	0.33293	1	.	.	.	B	0.10296	0.003	B	0.12837	0.008	T	0.55042	-0.8202	8	0.38643	T	0.18	.	7.503	0.27528	0.0:0.1848:0.0:0.8152	.	281	P21108	PRPS3_HUMAN	V	281	ENSP00000424595:M281V	ENSP00000424595:M281V	M	-	1	0	PRPS1L1	18033090	1.000000	0.71417	0.984000	0.44739	0.838000	0.47535	3.613000	0.54152	0.330000	0.23485	0.528000	0.53228	ATG		0.438	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886	
PKD1L1	168507	broad.mit.edu	37	7	47867036	47867036	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:47867036G>C	ENST00000289672.2	-	45	6816	c.6766C>G	c.(6766-6768)Ctg>Gtg	p.L2256V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2256					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCAGCGCAGGTGGCGAGCT	0.667																																						uc003tny.1																			0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(6766-6768)CTG>GTG		polycystin-1L1							52.0	45.0	48.0					7																	47867036		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47867036G>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6766C>G	7.37:g.47867036G>C	ENSP00000289672:p.Leu2256Val					C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'UTR	p.L2256V	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			45	6766	-			2256			Cytoplasmic (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.6766C>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563325	0.45694	.	.	ENSG00000158683	ENST00000289672	T	0.22539	1.95	5.29	1.58	0.23477	.	0.127621	0.31113	N	0.008234	T	0.16769	0.0403	M	0.61703	1.905	0.21020	N	0.999806	P	0.41313	0.745	B	0.36186	0.219	T	0.11591	-1.0581	10	0.37606	T	0.19	-22.9208	5.4325	0.16460	0.5163:0.0:0.4837:0.0	.	2256	Q8TDX9	PK1L1_HUMAN	V	2256	ENSP00000289672:L2256V	ENSP00000289672:L2256V	L	-	1	2	PKD1L1	47833561	0.618000	0.27051	0.717000	0.30585	0.792000	0.44763	0.622000	0.24433	0.442000	0.26555	0.655000	0.94253	CTG		0.667	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
CALN1	83698	broad.mit.edu	37	7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	rs144352678	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:71252855C>T	ENST00000329008.5	-	6	863	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	CALN1_ENST00000405452.2_Missense_Mutation_p.V189I|CALN1_ENST00000395276.2_Missense_Mutation_p.V189I|CALN1_ENST00000431984.1_Missense_Mutation_p.V189I|CALN1_ENST00000395275.2_Missense_Mutation_p.V231I|CALN1_ENST00000412588.1_Missense_Mutation_p.V231I	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		20837	0.002		0.0	False		,,,				2504	0.0					uc003twa.3																			1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(565-567)GTC>ATC		calneuron 1 isoform 2		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	123.0	97.0	106.0		565,691	5.1	1.0	7	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CALN1	NM_001017440.2,NM_031468.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	189/220,231/262	71252855	1,13005	2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252855C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.565G>A	7.37:g.71252855C>T	ENSP00000332498:p.Val189Ile					CALN1_uc003twb.3_Missense_Mutation_p.V231I|CALN1_uc003twc.3_Missense_Mutation_p.V189I	p.V189I	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1092	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	189			Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.565G>A	CCDS5541.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	32	5.173620	0.94807	0.0	1.16E-4	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.74632	-0.7;-0.86;-0.7;-0.7;-0.86;-0.7	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80182	0.4576	L	0.29908	0.895	0.52099	D	0.99994	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.82731	-0.0312	10	0.72032	D	0.01	0.0876	17.5493	0.87872	0.0:1.0:0.0:0.0	.	189;189	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	I	189;231;189;189;231;189	ENSP00000332498:V189I;ENSP00000378690:V231I;ENSP00000378691:V189I;ENSP00000410704:V189I;ENSP00000391882:V231I;ENSP00000384354:V189I	ENSP00000332498:V189I	V	-	1	0	CALN1	70890791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	GTC		0.537	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
ZAN	7455	broad.mit.edu	37	7	100336230	100336230	+	RNA	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:100336230C>T	ENST00000348028.3	+	0	925				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTTCTCTAGCCCTGGTAGTGA	0.577																																						uc003uwj.2																			0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(760-762)CCT>TCT		zonadhesin isoform 3							42.0	42.0	42.0					7																	100336230		1992	3949	5941			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100336230C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100336230C>T						ZAN_uc003uwk.2_Missense_Mutation_p.P254S|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.P254S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		7	925	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		254			MAM 2.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.760C>T		.	.	.	.	.	.	.	.	.	.	C	16.86	3.238538	0.58886	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.01947	4.54;4.54;4.54	4.87	3.99	0.46301	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.40554	N	0.001069	T	0.06142	0.0159	L	0.42245	1.32	0.39060	D	0.960501	D;D	0.56287	0.969;0.975	P;P	0.60012	0.79;0.867	T	0.28138	-1.0053	10	0.87932	D	0	.	9.7426	0.40427	0.0:0.9017:0.0:0.0983	.	254;254	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	254	ENSP00000445943:P254S;ENSP00000445091:P254S;ENSP00000444427:P254S	ENSP00000423579:P254S	P	+	1	0	ZAN	100174166	0.998000	0.40836	0.078000	0.20375	0.138000	0.21146	3.385000	0.52485	1.364000	0.46038	0.561000	0.74099	CCT		0.577	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
OPN1SW	611	broad.mit.edu	37	7	128415497	128415497	+	Silent	SNP	T	T	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:128415497T>A	ENST00000249389.2	-	1	347	c.348A>T	c.(346-348)gtA>gtT	p.V116V		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	116					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAGTACCTGCTACAGTGCCCA	0.547																																						uc003vnt.3																			0					0						c.(346-348)GTA>GTT		opsin 1 (cone pigments), short-wave-sensitive							113.0	116.0	115.0					7																	128415497		2203	4300	6503	SO:0001819	synonymous_variant	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415497T>A	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.348A>T	7.37:g.128415497T>A							p.V116V	NM_001708	NP_001699	P03999	OPSB_HUMAN			1	348	-			116			Helical; Name=3; (Potential).		Q13877	Silent	SNP	ENST00000249389.2	37	c.348A>T	CCDS5806.1																																																																																				0.547	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708	
TTC26	79989	broad.mit.edu	37	7	138854079	138854079	+	Silent	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:138854079A>G	ENST00000464848.1	+	12	1130	c.1050A>G	c.(1048-1050)ggA>ggG	p.G350G	TTC26_ENST00000478836.2_Silent_p.G243G|TTC26_ENST00000495038.1_Silent_p.G219G|TTC26_ENST00000430935.1_Silent_p.G350G|TTC26_ENST00000343187.4_Silent_p.G319G			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	350					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGTTGGTGGGAGGATCAGCTA	0.368																																						uc003vus.2																			0				ovary(1)	1						c.(1048-1050)GGA>GGG		tetratricopeptide repeat domain 26 isoform 1							169.0	162.0	164.0					7																	138854079		2203	4300	6503	SO:0001819	synonymous_variant	79989						binding	g.chr7:138854079A>G	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1050A>G	7.37:g.138854079A>G						TTC26_uc011kqn.1_Silent_p.G350G|TTC26_uc011kqo.1_Silent_p.G319G|TTC26_uc011kqp.1_Silent_p.G245G|TTC26_uc003vut.2_Silent_p.G210G|TTC26_uc011kqq.1_Silent_p.G219G	p.G350G	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN			12	1164	+			350					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	c.1050A>G	CCDS5852.1																																																																																				0.368	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926	
GIMAP5	55340	broad.mit.edu	37	7	150439564	150439564	+	Missense_Mutation	SNP	G	G	A	rs201011395		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:150439564G>A	ENST00000358647.3	+	3	704	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	113	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGCCCCACGTCCTGCTTCT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		18261	0.0		0.0	False		,,,				2504	0.001					uc003whr.1																			0				ovary(1)|central_nervous_system(1)	2						c.(337-339)GTC>ATC		GTPase, IMAP family member 5		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	73.0	75.0	74.0		949,337	3.2	1.0	7		74	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	GIMAP5,GIMAP1-GIMAP5	NM_001199577.1,NM_018384.4	29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	317/512,113/308	150439564	2,13004	2203	4300	6503	SO:0001583	missense	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150439564G>A	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.337G>A	7.37:g.150439564G>A	ENSP00000351473:p.Val113Ile					GIMAP5_uc010lpu.2_5'UTR	p.V113I	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	689	+			113			Cytoplasmic (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.337G>A	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106662	0.77096	0.0	2.33E-4	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05925	3.37	4.15	3.24	0.37175	AIG1 (1);	0.131721	0.51477	D	0.000086	T	0.17195	0.0413	M	0.69358	2.11	0.28692	N	0.904567	D	0.76494	0.999	D	0.65573	0.936	T	0.00719	-1.1595	10	0.59425	D	0.04	.	7.9216	0.29850	0.1176:0.0:0.8824:0.0	.	113	Q96F15	GIMA5_HUMAN	I	113;149	ENSP00000351473:V113I	ENSP00000351473:V113I	V	+	1	0	GIMAP5	150070497	0.488000	0.25996	1.000000	0.80357	0.851000	0.48451	4.121000	0.57904	2.143000	0.66587	0.655000	0.94253	GTC		0.587	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384	
PIP5K1B	8395	broad.mit.edu	37	9	71606125	71606125	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:71606125C>T	ENST00000265382.3	+	15	1877	c.1572C>T	c.(1570-1572)aaC>aaT	p.N524N	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	524					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTGAGCCCAACACTCTGGAAG	0.428																																						uc004agu.2																			0				stomach(1)	1						c.(1570-1572)AAC>AAT		phosphatidylinositol-4-phosphate 5-kinase, type							157.0	138.0	144.0					9																	71606125		2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71606125C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1572C>T	9.37:g.71606125C>T						PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_RNA	p.N524N	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	15	1877	+			524					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.1572C>T	CCDS6624.1																																																																																				0.428	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558	
PALM2	114299	broad.mit.edu	37	9	112694260	112694260	+	Intron	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:112694260C>T	ENST00000374531.2	+	6	474				PALM2_ENST00000448454.2_Nonsense_Mutation_p.R152*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.R150*|PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.R150*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.R150*|PALM2_ENST00000483909.1_Intron|PALM2_ENST00000314527.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.R150*	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCTCTGTTCACGAACAGCAGA	0.542																																						uc004bei.2																			0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(448-450)CGA>TGA		A kinase (PRKA) anchor protein 2 isoform 2							138.0	133.0	135.0					9																	112694260		2203	4300	6503	SO:0001627	intron_variant	445815						enzyme binding	g.chr9:112694260C>T	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.400+6898C>T	9.37:g.112694260C>T						PALM2_uc004bef.2_Nonsense_Mutation_p.R152*|PALM2_uc004beg.2_Intron|PALM2_uc004beh.3_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bek.3_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bej.3_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bel.1_Intron	p.R150*	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			6	640	+			Error:Variant_position_missing_in_Q9Y2D5_after_alignment					A9Z1X9|Q8N9D5|Q96DU1	Nonsense_Mutation	SNP	ENST00000374531.2	37	c.448C>T	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	C	37	6.470577	0.97594	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000448454;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	.	.	.	6.17	3.32	0.38043	.	1.309160	0.05762	N	0.605000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	4.8271	12.7551	0.57331	0.1207:0.647:0.2323:0.0	.	.	.	.	X	152;150;136;150;150;150;150;150	.	ENSP00000305861:R150X	R	+	1	2	PALM2-AKAP2;PALM2;AKAP2	111734081	0.982000	0.34865	0.837000	0.33122	0.959000	0.62525	2.133000	0.42093	0.458000	0.26988	0.655000	0.94253	CGA		0.542	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293	
SLC46A2	57864	broad.mit.edu	37	9	115652657	115652657	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:115652657C>T	ENST00000374228.4	-	1	536	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	102					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCGGTGGTAGCGGTCGCTGAG	0.607																																						uc004bgk.2																			0				central_nervous_system(1)	1						c.(304-306)CGC>CAC		solute carrier family 46, member 2							83.0	84.0	84.0					9																	115652657		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652657C>T	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.305G>A	9.37:g.115652657C>T	ENSP00000363345:p.Arg102His						p.R102H	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			1	537	-			102			Cytoplasmic (Potential).		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.305G>A	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258769	0.59321	.	.	ENSG00000119457	ENST00000374228	T	0.65549	-0.16	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);	0.301195	0.36200	N	0.002731	T	0.70806	0.3266	L	0.47716	1.5	0.50813	D	0.999891	D	0.89917	1.0	D	0.69824	0.966	T	0.66650	-0.5870	10	0.29301	T	0.29	-19.2531	13.2322	0.59949	0.1588:0.8412:0.0:0.0	.	102	Q9BY10	TSCOT_HUMAN	H	102	ENSP00000363345:R102H	ENSP00000363345:R102H	R	-	2	0	SLC46A2	114692478	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.784000	0.26816	2.623000	0.88846	0.650000	0.86243	CGC		0.607	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051	
EDA	1896	broad.mit.edu	37	X	69253319	69253319	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chrX:69253319C>T	ENST00000374552.4	+	7	1107	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	EDA_ENST00000524573.1_Missense_Mutation_p.R286C|EDA_ENST00000374553.2_Missense_Mutation_p.R289C	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	289			R -> C (in STHAGX1). {ECO:0000269|PubMed:19278982}.|R -> L (in STHAGX1). {ECO:0000269|PubMed:24487376}.		cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCTACATCCCCGCAGCGGGGA	0.498											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dxs.2																			0				ovary(2)|large_intestine(1)	3						c.(865-867)CGC>TGC		ectodysplasin A isoform EDA-A1							131.0	110.0	117.0					X																	69253319		2203	4300	6503	SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69253319C>T	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.865C>T	X.37:g.69253319C>T	ENSP00000363680:p.Arg289Cys		OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_uc004dxr.2_Missense_Mutation_p.R289C|EDA_uc011mpj.1_Missense_Mutation_p.R286C	p.R289C	NM_001399	NP_001390	Q92838	EDA_HUMAN			7	1107	+			289			Extracellular (Potential).		A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.865C>T	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066381	0.93898	.	.	ENSG00000158813	ENST00000374552;ENST00000374553;ENST00000524573	D;D;D	0.95001	-3.58;-3.53;-3.53	5.48	5.48	0.80851	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.987;0.992;0.987	D	0.97004	0.9731	10	0.87932	D	0	-10.4319	17.227	0.86973	0.0:1.0:0.0:0.0	.	286;289;289	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	C	289;289;286	ENSP00000363680:R289C;ENSP00000363681:R289C;ENSP00000432585:R286C	ENSP00000363680:R289C	R	+	1	0	EDA	69170044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.279000	0.76181	0.600000	0.82982	CGC		0.498	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399	
MCF2	4168	broad.mit.edu	37	X	138679647	138679647	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chrX:138679647A>G	ENST00000370576.4	-	18	2236	c.2027T>C	c.(2026-2028)aTg>aCg	p.M676T	MCF2_ENST00000519895.1_Missense_Mutation_p.M752T|MCF2_ENST00000536274.1_Missense_Mutation_p.M637T|MCF2_ENST00000520602.1_Missense_Mutation_p.M736T|MCF2_ENST00000414978.1_Missense_Mutation_p.M736T|MCF2_ENST00000370573.4_Missense_Mutation_p.M676T|MCF2_ENST00000338585.6_Missense_Mutation_p.M692T|MCF2_ENST00000370578.4_Missense_Mutation_p.M821T|AL033403.1_ENST00000401295.2_RNA	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	676					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AATCTGATGCATAGAATCATT	0.388																																						uc004fau.2																			0		p.M676I(1)		lung(1)|pleura(1)	2						c.(2026-2028)ATG>ACG		MCF.2 cell line derived transforming sequence							117.0	101.0	106.0					X																	138679647		2203	4299	6502	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138679647A>G		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2027T>C	X.37:g.138679647A>G	ENSP00000359608:p.Met676Thr					MCF2_uc004fav.2_Missense_Mutation_p.M692T|MCF2_uc011mwl.1_Missense_Mutation_p.M653T|MCF2_uc010nsh.1_Missense_Mutation_p.M676T|MCF2_uc011mwm.1_Missense_Mutation_p.M637T|MCF2_uc011mwn.1_Missense_Mutation_p.M821T|MCF2_uc004faw.2_Missense_Mutation_p.M736T|MCF2_uc011mwo.1_Missense_Mutation_p.M752T	p.M676T	NM_005369	NP_005360	P10911	MCF2_HUMAN			18	2321	-	Acute lymphoblastic leukemia(192;0.000127)		676					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2027T>C	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888336	0.72524	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.69	5.69	0.88448	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	H	0.94264	3.515	0.53688	D	0.999971	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.999;0.998;0.997;0.998;0.993;1.0;0.997	T	0.81790	-0.0771	10	0.87932	D	0	.	14.0474	0.64712	1.0:0.0:0.0:0.0	.	752;821;637;676;676;821;692;676	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	T	736;676;637;821;736;279;752;676;692	ENSP00000427745:M736T;ENSP00000359608:M676T;ENSP00000438155:M637T;ENSP00000359610:M821T;ENSP00000397055:M736T;ENSP00000405848:M279T;ENSP00000430276:M752T;ENSP00000359605:M676T;ENSP00000342204:M692T	ENSP00000342204:M692T	M	-	2	0	MCF2	138507313	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	8.930000	0.92872	1.915000	0.55452	0.486000	0.48141	ATG		0.388	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
