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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MGAM	8972	broad.mit.edu	37	7	141708357	141708357	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:141708357C>G	ENST00000475668.2	+	3	233	c.179C>G	c.(178-180)cCa>cGa	p.P60R	MGAM_ENST00000549489.2_Missense_Mutation_p.P60R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	60	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTGGTACCCCAGATCCTGGA	0.483000													12	29					0	0	0.080935	0	0
CDH11	1009	broad.mit.edu	37	16	65016076	65016076	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:65016076A>G	ENST00000394156.3	-	8	1581	c.1128T>C	c.(1126-1128)gaT>gaC	p.D376D	CDH11_ENST00000566827.1_Silent_p.D250D|CDH11_ENST00000268603.4_Silent_p.D376D			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	376	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTCATCAGCATCTTCTACTG	0.517000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			12	129					0	0	0.093190	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925212	6925212	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:6925212C>T	ENST00000409757.4	+	2	220	c.96C>T	c.(94-96)caC>caT	p.H32H	TBC1D14_ENST00000448507.1_Silent_p.H32H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	32						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACCTGCAACACGTCAATCTCA	0.562000													9	108					0	0	0.047766	0	0
PRKDC	5591	broad.mit.edu	37	8	48868498	48868498	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr8:48868498G>A	ENST00000314191.2	-	4	391	c.335C>T	c.(334-336)aCc>aTc	p.T112I	PRKDC_ENST00000338368.3_Missense_Mutation_p.T112I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	112					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAAACACTGGTACAAGTGTT	0.308000								Non-homologous end-joining					4	32					0	0	0.009096	0	0
GPR176	11245	broad.mit.edu	37	15	40093986	40093986	+	Missense_Mutation	SNP	C	C	T	rs139843045	byFrequency	TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:40093986C>T	ENST00000299092.3	-	4	1090	c.892G>A	c.(892-894)Gtc>Atc	p.V298I	GPR176_ENST00000543580.1_Missense_Mutation_p.V254I|GPR176_ENST00000561100.1_Missense_Mutation_p.V299I	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	299					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGCAAGAAGACGGAAGTGTCA	0.532000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	56					0	0	0.038147	0	0
AGO4	192670	broad.mit.edu	37	1	36316594	36316594	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:36316594A>G	ENST00000373210.3	+	17	2662	c.2417A>G	c.(2416-2418)tAt>tGt	p.Y806C	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		GCCCCTGCATATTATGCCCGG	0.453000													4	33					0	0	0.009096	0	0
HTR3C	170572	broad.mit.edu	37	3	183773130	183773130	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:183773130C>G	ENST00000318351.1	+	3	299	c.265C>G	c.(265-267)Ctg>Gtg	p.L89V		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	89						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GACATCATTCCTGTGGATGGA	0.438000													23	105					0	0	0.083992	0	0
NKAPL	222698	broad.mit.edu	37	6	28227211	28227211	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:28227211G>A	ENST00000343684.3	+	1	114	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	21										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGAAGGCGACGCAGCTCCTCG	0.667000													5	73					0	0	0.014758	0	0
ITGA6	3655	broad.mit.edu	37	2	173352098	173352098	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:173352098G>A	ENST00000375221.2	+	16	2397	c.2194G>A	c.(2194-2196)Gat>Aat	p.D732N	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Missense_Mutation_p.D693N|ITGA6_ENST00000343713.4_Missense_Mutation_p.D688N|ITGA6_ENST00000409080.1_Missense_Mutation_p.D693N|ITGA6_ENST00000409532.1_Missense_Mutation_p.D574N|ITGA6_ENST00000264106.6_Missense_Mutation_p.D732N			P23229	ITA6_HUMAN	integrin, alpha 6	732					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAAAGATGGCGATGACGCCCA	0.418000													28	62					0	0	0.108266	0	0
POLQ	10721	broad.mit.edu	37	3	121200622	121200622	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:121200622G>A	ENST00000264233.5	-	19	6136	c.6008C>T	c.(6007-6009)cCg>cTg	p.P2003L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2003					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATGAAGAGTCGGCTCCTGAGA	0.438000								DNA polymerases (catalytic subunits)					16	116					0	0	0.038395	0	0
EXOC4	60412	broad.mit.edu	37	7	133682355	133682355	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:133682355C>T	ENST00000253861.4	+	15	2346	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	EXOC4_ENST00000539845.1_Missense_Mutation_p.R672C|EXOC4_ENST00000541309.1_Missense_Mutation_p.R61C|EXOC4_ENST00000545148.1_Missense_Mutation_p.R383C	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	773					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TATGGCTGACCGCTGCTTGCT	0.488000													10	30					0	0	0.058154	0	0
WAPAL	23063	broad.mit.edu	37	10	88227232	88227232	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr10:88227232T>C	ENST00000298767.5	-	9	2646	c.2174A>G	c.(2173-2175)tAt>tGt	p.Y725C	WAPAL_ENST00000372075.1_5'UTR|WAPAL_ENST00000263070.7_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	725	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ACTCAGTATATACATGAGGGC	0.388000													14	49					0	0	0.028581	0	0
TCIRG1	10312	broad.mit.edu	37	11	67811734	67811734	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:67811734C>T	ENST00000265686.3	+	9	1051	c.943C>T	c.(943-945)Cac>Tac	p.H315Y	TCIRG1_ENST00000532635.1_Missense_Mutation_p.H99Y	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	315					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GAGCACCACGCACAAGTGCCT	0.687000													4	31					0	0	0.009096	0	0
FXYD2	486	broad.mit.edu	37	11	117695379	117695379	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:117695379C>T	ENST00000292079.2	-	1	80	c.15G>A	c.(13-15)tcG>tcA	p.S5S	FXYD6-FXYD2_ENST00000532984.1_Intron|FXYD2_ENST00000532119.1_Intron|FXYD2_ENST00000260287.2_Intron|FXYD2_ENST00000528014.1_Intron	NM_001680.4	NP_001671.2			FXYD domain containing ion transport regulator 2											breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)		CACCGTCCATCGACAACCCAG	0.612000													10	24					0	0	0.080935	0	0
CEP55	55165	broad.mit.edu	37	10	95287808	95287808	+	Silent	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr10:95287808T>C	ENST00000371485.3	+	9	1597	c.1293T>C	c.(1291-1293)gcT>gcC	p.A431A		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	431	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GTCCCACTGCTGCACTCAATG	0.463000													23	64					0	0	0.062417	0	0
MIR518A2	574491	broad.mit.edu	37	19	54242645	54242645	+	RNA	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:54242645G>A	ENST00000384966.1	+	0	59					NR_030213.1																						AAGAGAAAGCGCTTCCCTTTG	0.468000													11	113					0	0	0.069234	0	0
SPANXD	64648	broad.mit.edu	37	X	140786553	140786553	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:140786553G>T	ENST00000370515.3	-	1	343	c.10C>A	c.(10-12)Caa>Aaa	p.Q4K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GCACTGGATTGTTTGTCCATT	0.507000													43	184					3.37043e-27	3.78866e-27	0.048971	1	0
PLCB4	5332	broad.mit.edu	37	20	9388620	9388620	+	Silent	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:9388620T>C	ENST00000378501.2	+	18	1683	c.1668T>C	c.(1666-1668)ggT>ggC	p.G556G	PLCB4_ENST00000414679.2_Silent_p.G568G|PLCB4_ENST00000378473.3_Silent_p.G568G|PLCB4_ENST00000278655.4_Silent_p.G556G|PLCB4_ENST00000378493.1_Silent_p.G556G|PLCB4_ENST00000334005.3_Silent_p.G556G|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	556					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATATGTAGGTGCTACCACTA	0.423000													44	130					0	0	0.048971	0	0
ZNF536	9745	broad.mit.edu	37	19	31040060	31040060	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:31040060C>T	ENST00000355537.3	+	4	3681	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGAGAACAACGATGAAGAGG	0.552000													15	44					0	0	0.024245	0	0
GLMN	11146	broad.mit.edu	37	1	92752126	92752126	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:92752126G>T	ENST00000370360.3	-	7	737	c.656C>A	c.(655-657)cCt>cAt	p.P219H	GLMN_ENST00000534881.1_Missense_Mutation_p.P219H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	219					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TGTCAGCAAAGGGCATTTCAA	0.333000									Multiple Glomus Tumors (of the Skin), Familial				4	86					0.00024832	0.000258387	0.009096	1	0
TTC26	79989	broad.mit.edu	37	7	138827003	138827003	+	Splice_Site	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:138827003T>C	ENST00000464848.1	+	5	431	c.349_splice	c.e5-1	p.A117_splice	TTC26_ENST00000430935.1_Splice_Site_p.A117_splice|TTC26_ENST00000343187.4_Splice_Site_p.A86_splice|TTC26_ENST00000495038.1_Splice_Site_p.A117_splice|TTC26_ENST00000474035.2_Splice_Site_p.A117_splice|TTC26_ENST00000478836.2_Splice_Site_p.A117_splice|TTC26_ENST00000481482.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	117							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TTTTTTCAGCTTCAAAAAGCC	0.353000													40	106					0	0	0.039052	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834905	61834905	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:61834905G>C	ENST00000370339.3	-	4	728	c.387C>G	c.(385-387)ttC>ttG	p.F129L	YTHDF1_ENST00000370333.4_Missense_Mutation_p.F79L|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	129										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CCCATGCTGAGAACGCAGGGT	0.567000													20	50					0	0	0.055883	0	0
DRAXIN	374946	broad.mit.edu	37	1	11766452	11766452	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:11766452G>A	ENST00000294485.5	+	2	272	c.137G>A	c.(136-138)gGc>gAc	p.G46D		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GACCTCCCAGGCCCAGCGCTG	0.716000													9	27					0	0	0.047766	0	0
ZNF462	58499	broad.mit.edu	37	9	109688535	109688535	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:109688535A>G	ENST00000277225.5	+	3	2631	c.2342A>G	c.(2341-2343)tAc>tGc	p.Y781C	ZNF462_ENST00000457913.1_Missense_Mutation_p.Y781C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	781					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACCCACGATTACAATGCCACC	0.448000													6	99					0	0	0.021553	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548742	102548742	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:102548742T>C	ENST00000334701.7	-	11	2442	c.2161A>G	c.(2161-2163)Att>Gtt	p.I721V	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.I599V	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	599	Required for homodimerization.				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CTTGTGACAATACAGCATGGA	0.408000													14	89					0	0	0.043863	0	0
PYGB	5834	broad.mit.edu	37	20	25276260	25276260	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:25276260A>G	ENST00000216962.4	+	19	2443	c.2333A>G	c.(2332-2334)tAt>tGt	p.Y778C	PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	778					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TTTGCAGACTATGAAGCCTAC	0.632000													22	88					0	0	0.083992	0	0
RMDN2	151393	broad.mit.edu	37	2	38178430	38178430	+	Silent	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:38178430T>C	ENST00000407257.1	+	2	219	c.72T>C	c.(70-72)agT>agC	p.S24S	RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Silent_p.S24S|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Silent_p.S24S					regulator of microtubule dynamics 2																		ATCAAGTTAGTACAGACGCCC	0.428000													9	132					0	0	0.069234	0	0
EPHA5	2044	broad.mit.edu	37	4	66197778	66197778	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:66197778A>T	ENST00000273854.3	-	17	3521	c.2921T>A	c.(2920-2922)cTa>cAa	p.L974Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.L952Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.L811Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.L975Q	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	974	SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GATTGCCTCTAGCCATTCACC	0.398000										TSP Lung(17;0.13)			22	49					0	0	0.069288	0	0
PIGW	284098	broad.mit.edu	37	17	34893088	34893088	+	Silent	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:34893088G>A	ENST00000592983.1	+	2	718	c.138G>A	c.(136-138)ttG>ttA	p.L46L	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Silent_p.L46L			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	46					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACAGTACTTGTGTTCTTTTT	0.448000													8	246					0	0	0.038147	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011993	46011993	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr21:46011993A>C	ENST00000400368.1	-	1	393	c.373T>G	c.(373-375)Tgt>Ggt	p.C125G	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	125	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						ACGGACACACAGCACACAGGC	0.642000													6	63					0	0	0.047766	0	0
PCDH9	5101	broad.mit.edu	37	13	67800747	67800747	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr13:67800747A>G	ENST00000544246.1	-	2	2517	c.1826T>C	c.(1825-1827)cTt>cCt	p.L609P	PCDH9_ENST00000456367.1_Missense_Mutation_p.L609P|PCDH9_ENST00000377865.2_Missense_Mutation_p.L609P|PCDH9_ENST00000328454.5_Missense_Mutation_p.L609P|PCDH9_ENST00000377861.3_Missense_Mutation_p.L609P	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	609	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGAATGGAAAGAGTCACAGC	0.383000													13	147					0	0	0.024245	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101004	27101004	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:27101004C>T	ENST00000359193.2	+	1	173	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	52					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCCGGTGTATCTGGCAGCGGT	0.677000													14	51					0	0	0.020292	0	0
ZNF654	55279	broad.mit.edu	37	3	88189025	88189025	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:88189025G>C	ENST00000309495.5	+	1	772	c.565G>C	c.(565-567)Gac>Cac	p.D189H	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CCATCCAAAAGACATATATGC	0.358000													6	13					0	0	0.021553	0	0
CLDN15	24146	broad.mit.edu	37	7	100876196	100876196	+	Splice_Site	SNP	C	C	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:100876196C>A	ENST00000401528.1	-	4	1508		c.e4-1		CLDN15_ENST00000308344.5_Splice_Site	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15						calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGCAGATACCTGGGGACCGG	0.652000													3	23					2.56e-06	2.70027e-06	0.009096	1	0
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1													p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562000													3	25					0	0	0.004672	0	0
GRIA4	2893	broad.mit.edu	37	11	105782630	105782630	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:105782630A>G	ENST00000393125.2	+	11	1788	c.1298A>G	c.(1297-1299)aAt>aGt	p.N433S	GRIA4_ENST00000393127.2_Intron|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000428631.2_Missense_Mutation_p.N433S	NM_001077244.1	NP_001070712.1	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	0					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTTTAAGAAATTGATCAAGA	0.353000													46	925					0	0	0.048971	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755360	140755360	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr5:140755360C>T	ENST00000517434.1	+	1	1710	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.D570E(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.667000													48	168					0	0	0.048971	0	0
LARP1	23367	broad.mit.edu	37	5	154179561	154179561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr5:154179561G>T	ENST00000336314.4	+	10	1468	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	559	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAACTGGATTGAAGTGAAGAA	0.577000													20	58					7.45023e-12	8.19525e-12	0.055883	1	0
LAP3	51056	broad.mit.edu	37	4	17583958	17583958	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:17583958A>G	ENST00000226299.4	+	4	595	c.321A>G	c.(319-321)ggA>ggG	p.G107G	LAP3_ENST00000606142.1_Silent_p.G76G	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	107					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						AGGCAGCTGGAATCGACGAAC	0.438000													3	24					0	0	0.004672	0	0
FAM227B	196951	broad.mit.edu	37	15	49663515	49663515	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:49663515G>C	ENST00000299338.6	-	12	1397	c.1094C>G	c.(1093-1095)tCa>tGa	p.S365*		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TGCTAGTCTTGATAATCTTGA	0.299000													6	210					0	0	0.021553	0	0
EFHD2	79180	broad.mit.edu	37	1	15752368	15752368	+	Splice_Site	SNP	T	T	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:15752368T>G	ENST00000375980.4	+	2	387	c.308_splice	c.e2-1	p.Y104_splice		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	104	EF-hand 1.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CATCTGCAGGTATGATGCCGG	0.557000													10	96					0	0	0.080935	0	0
PCLO	27445	broad.mit.edu	37	7	82582565	82582565	+	Silent	SNP	A	A	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:82582565A>C	ENST00000423517.2	-	5	8041	c.7704T>G	c.(7702-7704)tcT>tcG	p.S2568S	PCLO_ENST00000333891.8_Silent_p.S2568S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2499					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTTGGTGAAGACTTGTTGG	0.403000													53	135					0	0	0.048971	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583408	80583408	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:80583408A>G	ENST00000305904.6	+	3	227	c.107A>G	c.(106-108)aAc>aGc	p.N36S	DYNLRB2_ENST00000570222.1_3'UTR|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000568035.1_Intron|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.N65S|RP11-109P11.1_ENST00000568275.1_RNA	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	36					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						ACCTTGGACAACTCAACAACT	0.358000													12	36					0	0	0.080935	0	0
PIK3R5	23533	broad.mit.edu	37	17	8808132	8808132	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:8808132T>C	ENST00000447110.1	-	5	498	c.374A>G	c.(373-375)gAg>gGg	p.E125G	PIK3R5_ENST00000584803.1_Missense_Mutation_p.E125G|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E125G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	125					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGTGAGCAGCTCCTGGCAGAT	0.582000													28	57					0	0	0.108266	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435382	104435382	+	RNA	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr5:104435382T>C	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GGAGTGATTCTGAAGCCTGAG	0.403000													6	86					0	0	0.047766	0	0
PTPRO	5800	broad.mit.edu	37	12	15668508	15668508	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:15668508G>A	ENST00000281171.4	+	8	1871	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D	PTPRO_ENST00000543886.1_Missense_Mutation_p.G514D|PTPRO_ENST00000348962.2_Missense_Mutation_p.G514D	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	514						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTAAGGAAAGGCCCTTTGATT	0.413000													31	104					0	0	0.041601	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													5	92					0	0	0.014758	0	0
OR10A3	26496	broad.mit.edu	37	11	7960501	7960501	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:7960501A>G	ENST00000360759.3	-	1	640	c.567T>C	c.(565-567)tgT>tgC	p.C189C		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTGTCTGCACACACAAGCT	0.418000													5	95					0	0	0.014758	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21143678	21143678	+	RNA	SNP	C	C	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:21143678C>A	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							GAATAGAGGCCTTAAAATTAA	0.408000													20	39					5.35267e-07	5.6849e-07	0.043863	1	0
ITGA10	8515	broad.mit.edu	37	1	145535818	145535818	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:145535818G>A	ENST00000369304.3	+	16	2181	c.2006G>A	c.(2005-2007)cGa>cAa	p.R669Q	ITGA10_ENST00000538811.1_Missense_Mutation_p.R538Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R526Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	669					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R669Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTAGGCGGCGAGGCCAAGAG	0.577000													25	139					0	0	0.076483	0	0
ATP11A	23250	broad.mit.edu	37	13	113460594	113460594	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr13:113460594C>T	ENST00000487903.1	+	4	408	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ATP11A_ENST00000375645.3_Missense_Mutation_p.T107M|ATP11A_ENST00000375630.2_Missense_Mutation_p.T107M|ATP11A_ENST00000283558.8_Missense_Mutation_p.T107M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	107					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATTACTGTGACGGCTATCAAA	0.398000													32	138					0	0	0.054565	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65864618	65864618	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:65864618G>A	ENST00000261875.5	+	10	1092	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	PTPLAD1_ENST00000569894.1_Missense_Mutation_p.R192Q|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.R284Q|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.R192Q|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.R254Q|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.R347Q|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.R192Q|PTPLAD1_ENST00000566511.1_Missense_Mutation_p.R192Q	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	309					activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GAGACCGGACGATTCAGTTTC	0.318000													13	137					0	0	0.020292	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74563605	74563605	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:74563605T>C	ENST00000225276.5	-	8	1206	c.887A>G	c.(886-888)cAt>cGt	p.H296R		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	296					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTCTCCAAAATGTGTGTTAAT	0.443000													12	51					0	0	0.020292	0	0
SMUG1	23583	broad.mit.edu	37	12	54576179	54576179	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:54576179G>A	ENST00000508394.2	-	3	576	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.P172S|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.P172S|SMUG1_ENST00000505662.1_5'UTR	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	172				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						CGCCCGCTGGGAGCCAGGAAA	0.577000								Base excision repair (BER), DNA glycosylases					6	122					0	0	0.038147	0	0
H2AFY	9555	broad.mit.edu	37	5	134724631	134724631	+	Silent	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr5:134724631G>A	ENST00000511689.1	-	2	746	c.153C>T	c.(151-153)gcC>gcT	p.A51A	H2AFY_ENST00000510038.1_Silent_p.A51A|H2AFY_ENST00000312469.4_Silent_p.A51A|H2AFY_ENST00000423969.2_Silent_p.A51A|H2AFY_ENST00000304332.4_Silent_p.A51A	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	51	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTCCAGGACGGCGGCCATGT	0.532000													23	91					0	0	0.083992	0	0
PEAR1	375033	broad.mit.edu	37	1	156876577	156876577	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:156876577T>A	ENST00000338302.3	+	7	774	c.549T>A	c.(547-549)taT>taA	p.Y183*	PEAR1_ENST00000292357.7_Nonsense_Mutation_p.Y183*			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	183						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTACTATGGCCCTGCCT	0.632000													7	76					0	0	0.069234	0	0
WNK3	65267	broad.mit.edu	37	X	54334451	54334451	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:54334451A>G	ENST00000354646.2	-	5	1431	c.993T>C	c.(991-993)gtT>gtC	p.V331V	WNK3_ENST00000375169.3_Silent_p.V331V|WNK3_ENST00000375159.2_Silent_p.V331V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	331	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CAAAAGCATAAACATCTACGG	0.398000													7	75					0	0	0.029380	0	0
PCNX	22990	broad.mit.edu	37	14	71444274	71444274	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:71444274C>G	ENST00000304743.2	+	6	1666	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*	PCNX_ENST00000439984.3_Nonsense_Mutation_p.S407*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.S407*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	407						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGACCAGCTCAACTCACATA	0.512000													4	135					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179582331	179582331	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:179582331G>T	ENST00000589042.1	-	87	25494	c.25270C>A	c.(25270-25272)Cag>Aag	p.Q8424K	TTN_ENST00000591111.1_Missense_Mutation_p.Q8107K|TTN_ENST00000342992.6_Missense_Mutation_p.Q7180K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8107	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			ATGTGGCTCTGGTCAGTTTGT	0.423000													11	33					4.68919e-08	5.0499e-08	0.069234	1	0
PDE4C	5143	broad.mit.edu	37	19	18322001	18322001	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:18322001G>A	ENST00000355502.3	-	19	2748	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	PDE4C_ENST00000262805.11_Missense_Mutation_p.T594M|PDE4C_ENST00000594617.2_Missense_Mutation_p.T626M|PDE4C_ENST00000447275.2_Missense_Mutation_p.T520M|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.T395M|PDE4C_ENST00000594465.2_Missense_Mutation_p.T626M			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	626					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GTCCTCCAGCGTGTCCAGCAG	0.597000													7	108					0	0	0.029380	0	0
COL8A2	1296	broad.mit.edu	37	1	36564363	36564363	+	Missense_Mutation	SNP	G	G	A	rs372280		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:36564363G>A	ENST00000397799.1	-	4	1143	c.919C>T	c.(919-921)Cct>Tct	p.P307S	COL8A2_ENST00000481785.1_Missense_Mutation_p.P242S|COL8A2_ENST00000303143.4_Missense_Mutation_p.P307S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	307	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCAGCCCAGGGGGGCCCCGG	0.706000													25	32					0	0	0.091800	0	0
DDB1	1642	broad.mit.edu	37	11	61097015	61097015	+	Silent	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:61097015G>T	ENST00000301764.7	-	4	766	c.369C>A	c.(367-369)atC>atA	p.I123I	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	123	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGGGTCAATGATGCCAATAA	0.498000								Nucleotide excision repair (NER)					9	14					0.000274275	0.000283479	0.047766	1	0
MYOM1	8736	broad.mit.edu	37	18	3067467	3067467	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr18:3067467G>C	ENST00000400569.3	-	38	5184	c.4851C>G	c.(4849-4851)gaC>gaG	p.D1617E	MYOM1_ENST00000356443.4_Missense_Mutation_p.D1617E|MYOM1_ENST00000261606.7_Missense_Mutation_p.D1521E			P52179	MYOM1_HUMAN	myomesin 1	1617	Ig-like C2-type 5.			D -> G (in Ref. 2; BAC86128).		striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGTTGCAGTGGTCGTCTGAGG	0.587000													472	22					0	0	0.048971	0	0
ITGB6	3694	broad.mit.edu	37	2	161052924	161052924	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:161052924G>A	ENST00000283249.2	-	3	386	c.149C>T	c.(148-150)aCt>aTt	p.T50I	ITGB6_ENST00000409967.2_Missense_Mutation_p.T50I|ITGB6_ENST00000428609.2_Missense_Mutation_p.T8I|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.T50I			P18564	ITB6_HUMAN	integrin, beta 6	50					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGATGGATGAGTAAAATTCTA	0.333000													55	142					0	0	0.048971	0	0
FLRT3	23767	broad.mit.edu	37	20	14306474	14306474	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:14306474G>A	ENST00000378053.3	-	2	1935	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	FLRT3_ENST00000341420.4_Missense_Mutation_p.S560L|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	560					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ACAGTTCCTTGAGAAGAGCGA	0.468000													57	117					0	0	0.048971	0	0
HRNR	388697	broad.mit.edu	37	1	152193084	152193084	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:152193084C>G	ENST00000368801.2	-	3	1096	c.1021G>C	c.(1021-1023)Ggc>Cgc	p.G341R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	341					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCTGAGCCAGACTCATAA	0.577000													11	124					0	0	0.069234	0	0
PAX3	5077	broad.mit.edu	37	2	223161786	223161786	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:223161786C>T	ENST00000350526.4	-	2	368	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	PAX3_ENST00000392069.2_Missense_Mutation_p.V78M|PAX3_ENST00000258387.5_Missense_Mutation_p.V78M|PAX3_ENST00000336840.6_Missense_Mutation_p.V78M|PAX3_ENST00000409551.3_Missense_Mutation_p.V78M|PAX3_ENST00000392070.2_Missense_Mutation_p.V78M|PAX3_ENST00000344493.4_Missense_Mutation_p.V78M|PAX3_ENST00000409828.3_Missense_Mutation_p.V78M	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	78	Paired.		V -> M (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGGGACACGCGCAGCTGG	0.652000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						3	36					0	0	0.004672	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398142	23398142	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:23398142G>T	ENST00000379361.4	+	2	1646	c.786G>T	c.(784-786)caG>caT	p.Q262H		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	262					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAGATTTCCAGAAGACCAGCC	0.522000													36	173					9.04072e-19	1.00163e-18	0.059317	1	0
FPR1	2357	broad.mit.edu	37	19	52249293	52249293	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:52249293T>C	ENST00000595042.1	-	3	1096	c.955A>G	c.(955-957)Agt>Ggt	p.S319G	FPR1_ENST00000304748.4_Missense_Mutation_p.S319G	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	319					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CTCTCCAGACTGGCGGGAAGG	0.567000													8	98					0	0	0.058154	0	0
NFATC2	4773	broad.mit.edu	37	20	50140011	50140011	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:50140011C>T	ENST00000371564.3	-	2	988	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	NFATC2_ENST00000414705.1_Missense_Mutation_p.A237T|NFATC2_ENST00000396009.3_Missense_Mutation_p.A257T	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	257	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AAGGCCTCGGCGCACGAATGC	0.741000													9	36					0	0	0.058154	0	0
MANSC1	54682	broad.mit.edu	37	12	12496065	12496065	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:12496065C>G	ENST00000535902.1	-	2	747	c.184G>C	c.(184-186)Gac>Cac	p.D62H	MANSC1_ENST00000396349.3_Missense_Mutation_p.D28H			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	62	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTAATGCAGTCTTCTTGAGTT	0.403000													4	171					0	0	0.009096	0	0
PHKA2	5256	broad.mit.edu	37	X	18924612	18924612	+	Splice_Site	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:18924612C>T	ENST00000379942.4	-	25	3472		c.e25+1			NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGGCATCTCACCTGAGCAGTT	0.627000													24	55					0	0	0.083992	0	0
HERC1	8925	broad.mit.edu	37	15	64067317	64067317	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:64067317A>C	ENST00000443617.2	-	2	593	c.506T>G	c.(505-507)tTa>tGa	p.L169*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	169					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAGCGCAAATAATAAACTTAG	0.448000													8	378					0	0	0.047766	0	0
HNRNPK	3190	broad.mit.edu	37	9	86587824	86587824	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:86587824G>C	ENST00000376263.3	-	10	803	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	HNRNPK_ENST00000351839.3_Missense_Mutation_p.L194V|HNRNPK_ENST00000360384.5_Missense_Mutation_p.L194V|HNRNPK_ENST00000376281.4_Missense_Mutation_p.L194V|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376264.2_Missense_Mutation_p.L194V	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	194	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2.|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCTCCAATAAGAACAACTCTG	0.343000													10	116					0	0	0.058154	0	0
ZC3H15	55854	broad.mit.edu	37	2	187366146	187366146	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:187366146G>C	ENST00000337859.6	+	4	663	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	ZC3H15_ENST00000544130.1_Intron|ZC3H15_ENST00000468120.1_3'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	146						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGAAGAACTTGAAAAAGGTAA	0.299000													4	82					0	0	0.014758	0	0
PDE3B	5140	broad.mit.edu	37	11	14853185	14853185	+	Splice_Site	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:14853185G>C	ENST00000282096.4	+	9	2309		c.e9-1		PDE3B_ENST00000455098.2_Splice_Site	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited						cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTATGTACAGATTGAACAGG	0.279000													33	62					0	0	0.050027	0	0
FIG4	9896	broad.mit.edu	37	6	110037703	110037703	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:110037703A>G	ENST00000230124.3	+	3	345	c.221A>G	c.(220-222)aAt>aGt	p.N74S	FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	74					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GATCTTGGAAATAGAACAAAG	0.418000													41	160					0	0	0.092188	0	0
VTA1	51534	broad.mit.edu	37	6	142525136	142525136	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:142525136A>G	ENST00000367630.4	+	7	770	c.712A>G	c.(712-714)Act>Gct	p.T238A	VTA1_ENST00000367621.1_Missense_Mutation_p.T180A|VTA1_ENST00000452973.2_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	238	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGCAAGTAATACTATCCAACC	0.383000													14	89					0	0	0.020292	0	0
SALL3	27164	broad.mit.edu	37	18	76754699	76754699	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr18:76754699A>G	ENST00000536229.3	+	1	3018	c.2309A>G	c.(2308-2310)cAg>cGg	p.Q770R	SALL3_ENST00000575389.2_Missense_Mutation_p.Q903R|SALL3_ENST00000537592.2_Missense_Mutation_p.Q903R			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGTCCTCGCAGGCCCTGTCG	0.726000													4	10					0	0	0.021553	0	0
CD2AP	23607	broad.mit.edu	37	6	47471022	47471022	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:47471022A>G	ENST00000359314.5	+	2	467	c.11A>G	c.(10-12)tAt>tGt	p.Y4C		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	4	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTAGTTGACTATATTGTGGAG	0.318000													22	65					0	0	0.069288	0	0
MYL10	93408	broad.mit.edu	37	7	101256788	101256788	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:101256788G>C	ENST00000223167.4	-	8	825	c.648C>G	c.(646-648)tgC>tgG	p.C216W		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	216	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TGATGACGTAGCACAGGTTTC	0.547000													6	143					0	0	0.047766	0	0
EFCAB2	84288	broad.mit.edu	37	1	245250645	245250645	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:245250645G>C	ENST00000366523.1	+	8	737	c.472G>C	c.(472-474)Gtg>Ctg	p.V158L	EFCAB2_ENST00000487845.1_Intron|EFCAB2_ENST00000447569.2_Intron|EFCAB2_ENST00000366522.2_Intron	NM_032328.3	NP_115704.1	Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	0	EF-hand 1.						calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			AACAATGATGGTGATAGATGA	0.294000													6	52					0	0	0.021553	0	0
DIDO1	11083	broad.mit.edu	37	20	61510637	61510637	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:61510637G>C	ENST00000266070.4	-	16	6996	c.6671C>G	c.(6670-6672)cCg>cGg	p.P2224R	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2224R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2224					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCGGGCTTCGGGTCCCGAGC	0.692000													3	13					0	0	0.009096	0	0
SPIRE1	56907	broad.mit.edu	37	18	12493083	12493083	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr18:12493083G>A	ENST00000409402.4	-	8	1444	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	SPIRE1_ENST00000383356.2_Missense_Mutation_p.R234C|SPIRE1_ENST00000453447.2_Missense_Mutation_p.R273C|SPIRE1_ENST00000410092.3_Missense_Mutation_p.R393C|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R196C	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	393						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AATCTGCTACGTCTAATCTCC	0.468000													18	37					0	0	0.055883	0	0
KERA	11081	broad.mit.edu	37	12	91449227	91449227	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:91449227G>T	ENST00000266719.3	-	2	1079	c.832C>A	c.(832-834)Ccc>Acc	p.P278T		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	278					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CTGATTCGGGGAACCTTTGTG	0.408000													33	104					1.04352e-10	1.13973e-10	0.064281	1	0
ZNF471	57573	broad.mit.edu	37	19	57027646	57027646	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:57027646C>G	ENST00000308031.5	+	3	169	c.36C>G	c.(34-36)gaC>gaG	p.D12E	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.D12E	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CACTTCAGGACTTAGTGACAT	0.398000													27	90					0	0	0.037714	0	0
FEZF1	389549	broad.mit.edu	37	7	121942225	121942225	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:121942225A>G	ENST00000442488.2	-	4	1321	c.1254T>C	c.(1252-1254)caT>caC	p.H418H	FEZF1_ENST00000427185.2_Silent_p.H368H|FEZF1_ENST00000331178.4_Silent_p.H414H	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	418					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCTTGCGGACATGCTTCTTGA	0.632000													8	104					0	0	0.038147	0	0
GRM2	2912	broad.mit.edu	37	3	51746779	51746779	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:51746779C>T	ENST00000395052.3	+	3	975	c.741C>T	c.(739-741)cgC>cgT	p.R247R	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.R247R	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	247					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCATGAGCCGCGCGGCCTTTG	0.647000													3	37					0	0	0.009096	0	0
FMR1	2332	broad.mit.edu	37	X	147026445	147026445	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:147026445C>T	ENST00000218200.8	+	14	1694	c.1465C>T	c.(1465-1467)Ctc>Ttc	p.L489F	FMR1_ENST00000440235.2_Missense_Mutation_p.L157F|FMR1_ENST00000439526.2_Missense_Mutation_p.L487F|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.L477F|FMR1_ENST00000370475.4_Missense_Mutation_p.L510F	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	510	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGACGAACTCAGTGATTG	0.473000									Fragile X syndrome				3	59					0	0	0.009096	0	0
MUC5B	727897	broad.mit.edu	37	11	1274140	1274140	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:1274140C>G	ENST00000447027.1	+	33	15214	c.15156C>G	c.(15154-15156)tgC>tgG	p.C5052W	MUC5B_ENST00000529681.1_Missense_Mutation_p.C5049W			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5049					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGTCACCTGCGTGAACAAGC	0.617000													6	33					0	0	0.029380	0	0
MAP10	54627	broad.mit.edu	37	1	232942446	232942446	+	Silent	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:232942446T>C	ENST00000418460.1	+	1	1804	c.1677T>C	c.(1675-1677)gcT>gcC	p.A559A		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CAAGTCCTGCTCATATACATC	0.413000													3	77					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	39					0	0	0.047766	0	0
FHOD1	29109	broad.mit.edu	37	16	67265094	67265094	+	Silent	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:67265094G>A	ENST00000258201.4	-	17	2911	c.2664C>T	c.(2662-2664)gcC>gcT	p.A888A	FHOD1_ENST00000567687.1_Silent_p.A467A	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	888	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGCTAACCTTGGCACAGCGGG	0.602000													6	43					0	0	0.047766	0	0
CLMN	79789	broad.mit.edu	37	14	95670064	95670064	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:95670064T>A	ENST00000298912.4	-	9	1735	c.1622A>T	c.(1621-1623)aAg>aTg	p.K541M		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	541						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CAGGTTAACCTTGATCTGGAA	0.433000													12	156					0	0	0.093190	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681089	106681089	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:106681089G>C	ENST00000526355.1	-	5	1790	c.1322C>G	c.(1321-1323)tCa>tGa	p.S441*	GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.S441*|GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.S462*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	441					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGGGATGTCTGAGAGATGTAG	0.453000													135	1056					0	0	0.048971	0	0
REV3L	5980	broad.mit.edu	37	6	111689218	111689218	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:111689218G>A	ENST00000435970.1	-	16	6355	c.5539C>T	c.(5539-5541)Cgg>Tgg	p.R1847W	REV3L_ENST00000368802.3_Missense_Mutation_p.R1925W|REV3L_ENST00000358835.3_Missense_Mutation_p.R1925W|REV3L_ENST00000368805.1_Missense_Mutation_p.R1925W			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1925	Mediates interaction with MAD2L2.				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATGAGGAGCCGTCCACCAATC	0.388000								DNA polymerases (catalytic subunits)					15	59					0	0	0.033300	0	0
LPAR1	1902	broad.mit.edu	37	9	113703901	113703901	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:113703901A>G	ENST00000374431.3	-	4	976	c.593T>C	c.(592-594)aTg>aCg	p.M198T	LPAR1_ENST00000358883.4_Missense_Mutation_p.M198T|LPAR1_ENST00000541779.1_Missense_Mutation_p.M199T|LPAR1_ENST00000374430.2_Missense_Mutation_p.M198T|LPAR1_ENST00000538760.1_Missense_Mutation_p.M199T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	198					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GAGGGGTGCCATGTTGGAACA	0.458000													90	67					0	0	0.048971	0	0
CCRN4L	25819	broad.mit.edu	37	4	139964425	139964425	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:139964425G>A	ENST00000280614.2	+	2	581	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	130					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					GAGGGATTTTGTGGATCTGAG	0.547000													34	130					0	0	0.059317	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681158	106681158	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:106681158G>T	ENST00000526355.1	-	5	1721	c.1253C>A	c.(1252-1254)tCc>tAc	p.S418Y	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S418Y|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S439Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	418					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AAATAAAATGGAATTTGATTC	0.423000													94	916					7.49063e-41	8.48204e-41	0.048971	1	0
NCKAP5	344148	broad.mit.edu	37	2	133538710	133538710	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:133538710A>G	ENST00000409261.1	-	15	5337	c.4964T>C	c.(4963-4965)cTc>cCc	p.L1655P	NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L1655P|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1655							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGCCGATGAGACAGGAGCC	0.458000													7	41					0	0	0.058154	0	0
ZMYM2	7750	broad.mit.edu	37	13	20641120	20641120	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr13:20641120C>G	ENST00000382869.3	+	20	3513	c.3262C>G	c.(3262-3264)Ctt>Gtt	p.L1088V	ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.L1088V|ZMYM2_ENST00000382874.2_Missense_Mutation_p.L1088V|ZMYM2_ENST00000382870.2_Missense_Mutation_p.L468V	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1088					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AACTAGGCAACTTGATGAAGA	0.338000													5	66					0	0	0.021553	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568364	7568364	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:7568364C>T	ENST00000340209.4	+	2	555	c.258C>T	c.(256-258)agC>agT	p.S86S	RBFOX1_ENST00000355637.4_Silent_p.S101S|RBFOX1_ENST00000547372.1_Silent_p.S124S|RBFOX1_ENST00000550418.1_Silent_p.S81S|RBFOX1_ENST00000436368.2_Silent_p.S101S|RBFOX1_ENST00000311745.5_Silent_p.S101S|RBFOX1_ENST00000553186.1_Silent_p.S81S|RBFOX1_ENST00000422070.4_Silent_p.S124S|RBFOX1_ENST00000547338.1_Silent_p.S81S|RBFOX1_ENST00000552089.1_Silent_p.S117S|RBFOX1_ENST00000535565.2_Silent_p.S117S			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	81					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGACACGAGCGCTCAGACCG	0.657000													24	100					0	0	0.050027	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	35					0	0	0.004672	0	0
SUCLG2	8801	broad.mit.edu	37	3	67546294	67546294	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:67546294G>T	ENST00000307227.5	-	9	1017	c.990C>A	c.(988-990)ttC>ttA	p.F330L	SUCLG2_ENST00000492795.1_Missense_Mutation_p.F330L|SUCLG2_ENST00000493112.1_Missense_Mutation_p.F330L	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	330					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CAAGATCCAAGAAGTTGGCTG	0.443000													17	31					1.99824e-07	2.137e-07	0.033300	1	0
CYLC1	1538	broad.mit.edu	37	X	83128622	83128622	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:83128622C>G	ENST00000329312.4	+	4	943	c.906C>G	c.(904-906)gaC>gaG	p.D302E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	302					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCTGAAGACTCAAAGGATG	0.323000													10	52					0	0	0.080935	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131548	35131548	+	RNA	SNP	G	G	A	rs144021252	by1000genomes	TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:35131548G>A	ENST00000436258.1	-	0	1821																											TGGCACCTGCGAAGACAGCAT	0.388000													3	58					0	0	0.009096	0	0
OR5H15	403274	broad.mit.edu	37	3	97888223	97888223	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:97888223A>T	ENST00000356526.2	+	1	680	c.680A>T	c.(679-681)gAa>gTa	p.E227V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACAGTCTTAGAAAAGAAATCT	0.358000													5	96					0	0	0.014758	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294189	28294189	+	Silent	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:28294189G>A	ENST00000414429.1	-	8	1878	c.975C>T	c.(973-975)tgC>tgT	p.C325C	ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000344279.6_Silent_p.C325C|ZSCAN31_ENST00000439158.1_Silent_p.C325C|ZSCAN31_ENST00000396838.2_Silent_p.C325C|ZSCAN31_ENST00000446474.1_Silent_p.C166C					zinc finger and SCAN domain containing 31																		CACACACTTTGCATTCATATG	0.493000													17	276					0	0	0.038395	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													6	36					0	0	0.021553	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	46					0	0	0.004672	0	0
ERCC3	2071	broad.mit.edu	37	2	128046972	128046972	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:128046972T>C	ENST00000493187.2	-	6	1034	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	ERCC3_ENST00000285398.2_Missense_Mutation_p.M255V			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	255					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCTTGTCCATTTGCTCATAG	0.478000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				16	60					0	0	0.038395	0	0
SCYL1	57410	broad.mit.edu	37	11	65303563	65303563	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:65303563C>T	ENST00000524944.1	+	11	1559	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	SCYL1_ENST00000279270.6_Missense_Mutation_p.P509L|SCYL1_ENST00000420247.2_Missense_Mutation_p.P509L|SCYL1_ENST00000527630.1_Missense_Mutation_p.P509L|SCYL1_ENST00000527009.1_Missense_Mutation_p.P366L|SCYL1_ENST00000533862.1_Missense_Mutation_p.P509L|SCYL1_ENST00000270176.5_Missense_Mutation_p.P509L|SCYL1_ENST00000525364.1_Missense_Mutation_p.P509L			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	509					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						AAGATCCTGCCTGTGCTCTGC	0.617000													39	71					0	0	0.111260	0	0
MCCC1	56922	broad.mit.edu	37	3	182759449	182759449	+	Silent	SNP	A	A	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:182759449A>C	ENST00000492597.1	-	10	1548	c.846T>G	c.(844-846)ccT>ccG	p.P282P	MCCC1_ENST00000539926.1_Silent_p.P256P|MCCC1_ENST00000265594.4_Silent_p.P391P			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	391	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AGTTATTGCTAGGATCTTCTG	0.488000													12	206					0	0	0.105934	0	0
ZNF330	27309	broad.mit.edu	37	4	142147942	142147942	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:142147942A>C	ENST00000262990.4	+	5	461	c.233A>C	c.(232-234)aAg>aCg	p.K78T	ZNF330_ENST00000421169.2_Missense_Mutation_p.K18T	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	78						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TGCATGATGAAGTCTTCAGAC	0.388000													29	176					0	0	0.050027	0	0
TF	7018	broad.mit.edu	37	3	133486976	133486976	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:133486976A>G	ENST00000402696.3	+	13	2075	c.1590A>G	c.(1588-1590)aaA>aaG	p.K530K	TF_ENST00000264998.3_Silent_p.K403K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	530	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCAACAACAAAGAGGGATACT	0.443000													14	85					0	0	0.028581	0	0
CMTR2	55783	broad.mit.edu	37	16	71319616	71319616	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:71319616G>C	ENST00000338099.5	-	3	544	c.208C>G	c.(208-210)Cta>Gta	p.L70V	FTSJD1_ENST00000434935.2_Missense_Mutation_p.L70V			Q8IYT2	FTSJ1_HUMAN		70						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTCATTTAGGGAGTTCTTC	0.398000													29	129					0	0	0.034045	0	0
SPRED3	399473	broad.mit.edu	37	19	38882740	38882740	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:38882740C>A	ENST00000587013.1	+	2	542	c.464C>A	c.(463-465)gCc>gAc	p.A155D	SPRED3_ENST00000338502.4_Missense_Mutation_p.A111D|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_Missense_Mutation_p.A111D			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	111					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTGCGCTGGCCGCACTGGGT	0.607000													39	88					4.92203e-23	5.4927e-23	0.086207	1	0
DNAH11	8701	broad.mit.edu	37	7	21747448	21747448	+	Silent	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:21747448T>C	ENST00000328843.6	+	41	6730	c.6699T>C	c.(6697-6699)gaT>gaC	p.D2233D	DNAH11_ENST00000409508.3_Silent_p.D2226D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2233	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGGAAAGATGGCAAGTAGT	0.388000									Kartagener syndrome				22	39					0	0	0.083992	0	0
VWF	7450	broad.mit.edu	37	12	6094236	6094236	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:6094236G>C	ENST00000261405.5	-	40	7205	c.6951C>G	c.(6949-6951)gaC>gaG	p.D2317E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2317	VWFC 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCAGCACTGGTCTGCATTCT	0.597000													24	101					0	0	0.034045	0	0
TP53	7157	broad.mit.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:7578449C>T	ENST00000420246.2	-	5	613	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_ENST00000269305.4_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000455263.2_Missense_Mutation_p.A161T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGTAGATGGCCATGGCGCGG	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	62					0	0	0.028581	0	0
EPHA7	2045	broad.mit.edu	37	6	93982120	93982120	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:93982120C>A	ENST00000369303.4	-	6	1529	c.1345G>T	c.(1345-1347)Gta>Tta	p.V449L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	449	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCCTTCATTACTCCACTCACT	0.448000													10	180					4.68919e-08	5.0499e-08	0.069234	1	0
SLC16A2	6567	broad.mit.edu	37	X	73740906	73740906	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:73740906G>A	ENST00000276033.5	+	2	900	c.734G>A	c.(733-735)cGa>cAa	p.R245Q	SLC16A2_ENST00000587091.1_Missense_Mutation_p.R171Q			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	171						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TTGGGCTGCCGAATCACAGCA	0.537000													6	85					0	0	0.038147	0	0
CUBN	8029	broad.mit.edu	37	10	17061945	17061945	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr10:17061945C>T	ENST00000377833.4	-	28	4120	c.4055G>A	c.(4054-4056)gGa>gAa	p.G1352E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1352	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGTCTACTCCACAGTAGCG	0.493000													14	59					0	0	0.105934	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667779	70667779	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr8:70667779T>C	ENST00000260126.3	-	4	1844	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K380E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K380E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	380	Poly-Lys.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTTTTCTTTTTCTTTTTCTTG	0.383000													8	105					0	0	0.047766	0	0
LOC440040	440040	broad.mit.edu	37	11	49597984	49597984	+	RNA	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:49597984C>G	ENST00000527477.1	+	0	588																											AGTCCGTGAACAGTATGGCAT	0.502000													9	25					0	0	0.058154	0	0
OGFRL1	79627	broad.mit.edu	37	6	72011631	72011631	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:72011631C>T	ENST00000370435.4	+	7	1369	c.1235C>T	c.(1234-1236)aCt>aTt	p.T412I	RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	412						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						AAAACAGTTACTACTCCCACA	0.423000													34	72					0	0	0.086207	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552688	173552688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:173552688delA	ENST00000367714.3	-	6	1019	c.597delT	c.(595-597)ttfs	p.F199fs	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	199					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GAAAATTTCCAAAAAAAATTG	0.279													11	107	---	---	---	---					
ZNF513	130557	broad.mit.edu	37	2	27600905	27600905	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:27600905delT	ENST00000323703.6	-	4	1331	c.1133delA	c.(1132-1134)ccfs	p.H378fs	ZNF513_ENST00000407879.1_Frame_Shift_Del_p.H316fs|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	378					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTCATGTGCCGGGCCAG	0.622													63	214	---	---	---	---					
LINC01317	104355287	broad.mit.edu	37	2	34041837	34041838	+	RNA	INS	-	-	CCTCC	rs140516377	by1000genomes	TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:34041837_34041838insCCTCC	ENST00000366209.2	+	0	68																											tcttctcttctcctcccctccc	0.480													3	4	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73678468	73678468	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:73678468delA	ENST00000264448.6	+	8	4922	c.4811delA	c.(4810-4812)gafs	p.E1604fs	ALMS1_ENST00000377715.1_Frame_Shift_Del_p.E1604fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.E1562fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1604	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGACCTACTGAAAAAAAGACT	0.453													11	138	---	---	---	---					
FGFR3	2261	broad.mit.edu	37	4	1807542	1807543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:1807542_1807543insG	ENST00000340107.4	+	13	1973_1974	c.1717_1718insG	c.(1717-1719)gccfs	p.A573fs	FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.A571fs|FGFR3_ENST00000412135.2_Frame_Shift_Ins_p.A459fs|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.A572fs|FGFR3_ENST00000352904.1_Frame_Shift_Ins_p.A459fs|FGFR3_ENST00000260795.2_Frame_Shift_Ins_p.A571fs	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	571	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	gcgggcgcggcggcccccgggc	0.703		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				27	103	---	---	---	---					
RP11-548L20.1	0	broad.mit.edu	37	4	34234402	34234403	+	RNA	INS	-	-	CCTT			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:34234402_34234403insCCTT	ENST00000514877.1	-	0	265																											cttccttccttctttatttctA	0.426													3	3	---	---	---	---					
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	-	T	rs17875385		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:29694802_29694803insT	ENST00000259951.7	+	7	1235_1236	c.1179_1180insT	c.(1177-1182)ttttttfs	p.FF393fs	HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000475996.1_Intron	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													7	401	---	---	---	---					
LOC102724710	102724710	broad.mit.edu	37	8	93591561	93591562	+	RNA	INS	-	-	TTTC	rs34835405		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr8:93591561_93591562insTTTC	ENST00000523284.1	-	0	395																											ctttctttctttttctttcttt	0.312													8	1	---	---	---	---					
C9orf172	389813	broad.mit.edu	37	9	139739061	139739062	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:139739061_139739062insA	ENST00000436881.1	+	1	195_196	c.195_196insA	c.(193-198)gaccctfs	p.D65fs		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	65										endometrium(2)|large_intestine(1)|lung(6)	9						CGGCCATGGAGACCCTGCCGGA	0.762													7	2	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs35089393	by1000genomes	TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggg>gg	p.GGCGGCGSGCA43del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691													8	8	---	---	---	---					
DCN	1634	broad.mit.edu	37	12	91558464	91558464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:91558464delG	ENST00000052754.5	-	3	743	c.242delC	c.(241-243)ctfs	p.P81fs	DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Frame_Shift_Del_p.P81fs|DCN_ENST00000425043.1_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000552962.1_Frame_Shift_Del_p.P81fs|DCN_ENST00000393155.1_Frame_Shift_Del_p.P81fs|DCN_ENST00000303320.3_Frame_Shift_Del_p.P81fs|DCN_ENST00000547568.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	81					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGTTGTGTCAGGGGGAAGATC	0.403													10	75	---	---	---	---					
C12orf43	64897	broad.mit.edu	37	12	121442108	121442109	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:121442108_121442109insG	ENST00000445832.3	-	6	648_649	c.546_547insC	c.(544-549)ccccagfs	p.Q183fs	C12orf43_ENST00000288757.3_Frame_Shift_Ins_p.Q213fs|C12orf43_ENST00000539736.1_Frame_Shift_Ins_p.Q203fs|C12orf43_ENST00000366211.2_Frame_Shift_Ins_p.Q172fs|C12orf43_ENST00000537817.1_Frame_Shift_Ins_p.Q214fs|C12orf43_ENST00000536407.2_Intron			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	213										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCATGCTGGTGGGGGTGGTGG	0.550													8	239	---	---	---	---					
FBXO33	254170	broad.mit.edu	37	14	39871062	39871078	+	Splice_Site	DEL	AATTCTATAAGGAAAAC	AATTCTATAAGGAAAAC	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:39871062_39871078delAATTCTATAAGGAAAAC	ENST00000298097.7	-	3	1048_1051	c.710_splice	c.e3-1	p.237_splice	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	237										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ACAGTTGCTGAATTCTATAAGGAAAACACATGCCACA	0.364													22	85	---	---	---	---					
RP11-566K19.3	0	broad.mit.edu	37	15	22780583	22780592	+	RNA	DEL	GAATGAAGAA	GAATGAAGAA	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:22780583_22780592delGAATGAAGAA	ENST00000560026.1	-	0	256																											AAGAGGCGATGAATGAAGAAGCCAACCAGC	0.471													3	5	---	---	---	---					
CD7	924	broad.mit.edu	37	17	80274142	80274168	+	In_Frame_Del	DEL	CAGGGAGGGCAGAGGCTGCTGGCGGGT	CAGGGAGGGCAGAGGCTGCTGGCGGGT	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:80274142_80274168delCAGGGAGGGCAGAGGCTGCTGGCGGGT	ENST00000584284.1	-	3	596_622	c.515_541delACCCGCCAGCAGCCTCTGCCCTCCCTG	c.(514-543)gcg>g	p.DPPAASALPA172del	CD7_ENST00000312648.3_In_Frame_Del_p.DPPAASALPA172del|CD7_ENST00000583376.1_In_Frame_Del_p.DPPAASALPA72del|CD7_ENST00000578509.1_In_Frame_Del_p.DPPAASALPA72del			P09564	CD7_HUMAN	CD7 molecule	172	4 X 9 AA tandem repeats, potential spacer function.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GCCAGGGCCGCAGGGAGGGCAGAGGCTGCTGGCGGGTCAGGGAGGGC	0.714													6	4	---	---	---	---					
KCNJ4	3761	broad.mit.edu	37	22	38823844	38823845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr22:38823844_38823845insC	ENST00000303592.3	-	2	551_552	c.293_294insG	c.(292-294)gccfs	p.A98fs		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	98	Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ccgccgccgggccccccgccgc	0.683													7	34	---	---	---	---