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
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000													16	254					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293015	130293015	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:130293015T>A	ENST00000358511.6	+	7	3224	c.3193T>A	c.(3193-3195)Ttt>Att	p.F1065I	COL6A6_ENST00000453409.2_Missense_Mutation_p.F1065I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1065	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGAGATATCATTTCAGATTGA	0.478000													155	191					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254126	39254126	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:39254126C>T	ENST00000333822.4	-	1	267	c.211G>A	c.(211-213)Gtg>Atg	p.V71M		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CAGCTGGACACACAGCAGCTG	0.667000													7	276					0	0	1	0	0
RP11-368J21.3	0	broad.mit.edu	37	16	22558314	22558314	+	RNA	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:22558314G>A	ENST00000550753.1	+	0	1296					NR_003676.2																						CTGAGACCACGAAGGACTTGG	0.443000													4	114					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60754766	60754766	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:60754766G>A	ENST00000303375.5	+	12	2373	c.1971G>A	c.(1969-1971)ccG>ccA	p.P657P		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	657					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGAGCTGCCGGGGCCAGATC	0.667000													41	70					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353000													7	1125					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81399879	81399879	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:81399879C>T	ENST00000430430.1	+	2	1613	c.834C>T	c.(832-834)acC>acT	p.T278T	ZBTB10_ENST00000455036.3_Silent_p.T278T|ZBTB10_ENST00000426744.2_Silent_p.T278T|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	278					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GCCAAAAGACCCCTGCAGATG	0.582000													9	188					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179483531	179483531	+	Silent	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:179483531G>T	ENST00000589042.1	-	251	46970	c.46746C>A	c.(46744-46746)ggC>ggA	p.G15582G	TTN_ENST00000359218.5_Silent_p.G6642G|TTN_ENST00000460472.2_Silent_p.G6517G|TTN_ENST00000342992.6_Silent_p.G13014G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.G6709G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G13941G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13941	Fibronectin type-III 13.						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)			TCAGAGGCTTGCCAACATCAA	0.413000													23	179					1.17739e-12	1.25715e-12	1	1	0
PIGO	84720	broad.mit.edu	37	9	35090143	35090143	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:35090143G>A	ENST00000378617.3	-	9	3383	c.2989C>T	c.(2989-2991)Cgg>Tgg	p.R997W	PIGO_ENST00000341666.3_Missense_Mutation_p.R997W|PIGO_ENST00000298004.5_Missense_Mutation_p.R580W|PIGO_ENST00000361778.2_Missense_Mutation_p.R580W	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	997					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCCGGAGCCGCATCTCCATC	0.577000													5	551					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138643810	138643810	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:138643810C>T	ENST00000218099.2	+	8	973	c.966C>T	c.(964-966)gaC>gaT	p.D322D	F9_ENST00000394090.2_Silent_p.D284D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	322	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGGAACTGGACGAACCCTTAG	0.408000													302	35					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40591062	40591062	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:40591062G>A	ENST00000260402.3	-	9	1036	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	PLCB2_ENST00000557821.1_Missense_Mutation_p.R263W|PLCB2_ENST00000456256.2_Missense_Mutation_p.R263W	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	263					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGTCAGGCCGTGCTGGCGGG	0.577000													22	248					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73472564	73472564	+	Silent	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:73472564C>A	ENST00000224721.6	+	27	3383	c.3378C>A	c.(3376-3378)atC>atA	p.I1126I	C10orf105_ENST00000398786.2_3'UTR|C10orf105_ENST00000441508.2_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1121	Cadherin 11.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCACAGCATCTTGCAGGCAG	0.642000													88	59					9.79205e-48	1.07323e-47	1	1	0
CARD9	64170	broad.mit.edu	37	9	139266428	139266428	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:139266428G>A	ENST00000371732.5	-	2	268	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CARD9_ENST00000371734.3_Missense_Mutation_p.R35W|CARD9_ENST00000315908.7_Missense_Mutation_p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	35	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTGCACTGCCGCAGGTAAGGT	0.627000													10	726					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846006	18846006	+	RNA	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617000													7	248					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20800871	20800871	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:20800871G>A	ENST00000328879.4	-	6	1554	c.1398C>T	c.(1396-1398)taC>taT	p.Y466Y	KLHL22_ENST00000440659.2_Silent_p.Y323Y	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	466					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGCCTGGATCGTAGCAGTGTG	0.612000													5	661					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29126100	29126100	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:29126100G>A	ENST00000261590.8	+	15	2960	c.2751G>A	c.(2749-2751)gcG>gcA	p.A917A	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	917					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTAGGCAGGCGCAAAAGGTAG	0.463000													6	967					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622456	41622456	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:41622456G>T	ENST00000331105.2	+	3	340	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	90					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGCCCTGGTGGACCAGGGAGA	0.597000													37	464					2.42023e-17	2.60944e-17	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38120006	38120006	+	Silent	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:38120006T>C	ENST00000406386.3	+	7	1698	c.1443T>C	c.(1441-1443)tgT>tgC	p.C481C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	481					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C481C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGTGCCCAGCGGG	0.592000													7	555					0	0	1	0	0
PTPN13	0	broad.mit.edu	37	4	87653817	87653817	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:87653817C>A	ENST00000436978.1	+	12	2236	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M	PTPN13_ENST00000511467.1_Missense_Mutation_p.L586M|PTPN13_ENST00000316707.6_Missense_Mutation_p.L586M|PTPN13_ENST00000411767.2_Missense_Mutation_p.L586M|PTPN13_ENST00000427191.2_Missense_Mutation_p.L586M	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	586	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGACTGGAACTGACCTGTGA	0.368000													29	244					2.08457e-15	2.24023e-15	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79966268	79966268	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:79966268G>A	ENST00000360280.3	+	53	7585	c.7325G>A	c.(7324-7326)gGt>gAt	p.G2442D	VPS13A_ENST00000376634.4_Missense_Mutation_p.G2442D|VPS13A_ENST00000376636.3_Missense_Mutation_p.G2403D|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2442D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2442					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCCCTCCTGGTAAAGCCGTG	0.408000													58	696					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458000													6	476					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66998264	66998264	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:66998264G>A	ENST00000303334.4	+	5	636	c.565G>A	c.(565-567)Gga>Aga	p.G189R	CES3_ENST00000394037.1_Missense_Mutation_p.G189R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	189						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CCCCAGCACTGGAGATGAGCA	0.587000													126	93					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592917	38592917	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:38592917G>A	ENST00000413689.1	-	28	5139	c.4946C>T	c.(4945-4947)gCc>gTc	p.A1649V	SCN5A_ENST00000423572.2_Missense_Mutation_p.A1648V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1616V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1595V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1648V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1631V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1631V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1649V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1595V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1649			A -> V (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATCATGAGGGCAAAGAGCAG	0.582000													6	642					0	0	1	0	0
MLK4	0	broad.mit.edu	37	1	233489603	233489603	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:233489603G>A	ENST00000366624.3	+	3	1298	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	MLK4_ENST00000366623.3_Missense_Mutation_p.G346D	NM_032435.2	NP_115811.2																					CCCTATCGGGGCATTGATGGC	0.517000													33	879					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													4	211					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													11	350					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128193005	128193005	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:128193005C>G	ENST00000284694.7	-	3	884	c.764G>C	c.(763-765)aGg>aCg	p.R255T	C10orf90_ENST00000356858.3_Missense_Mutation_p.R208T|C10orf90_ENST00000454341.1_Missense_Mutation_p.R255T|C10orf90_ENST00000544758.1_Missense_Mutation_p.R352T|C10orf90_ENST00000392694.1_Missense_Mutation_p.R208T|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	255										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGAGACACCCTGAGGTGGAC	0.522000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	209	470					0	0	1	0	0
FAM86C2P	0	broad.mit.edu	37	11	67564228	67564228	+	RNA	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:67564228C>T	ENST00000528089.1	-	0	912																											GAGGAGCCCGCTGGTGCTCCC	0.627000													11	312					0	0	1	0	0
WNT5A	7474	broad.mit.edu	37	3	55508500	55508500	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:55508500G>A	ENST00000474267.1	-	5	1070	c.549C>T	c.(547-549)ggC>ggT	p.G183G	WNT5A_ENST00000264634.4_Silent_p.G183G|WNT5A_ENST00000497027.1_Silent_p.G168G			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	183					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CGATGTTGTCGCCGCAGCCGC	0.716000													39	51					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64812808	64812808	+	Silent	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:64812808C>G	ENST00000332707.5	+	6	952	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	141	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.L141L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GAGTAGATCTCTACCTGCGAA	0.398000													6	379					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													11	1625					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170115538	170115538	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:170115538G>A	ENST00000263816.3	-	17	2795	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	837					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTTACCCGGCAAAAGGATG	0.403000													5	560					0	0	1	0	0
PRCC	5546	broad.mit.edu	37	1	156756500	156756500	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156756500G>A	ENST00000271526.4	+	3	889	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PRCC_ENST00000353233.3_Missense_Mutation_p.R206H|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	206					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTTCTCCCGCAAACCCTCG	0.552000			T	TFE3	papillary renal								10	877					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	131					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74754875	74754875	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:74754875G>A	ENST00000377526.3	-	8	1138	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	343						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GACTGGGGGCGCAATCTGGGG	0.512000													7	1041					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073206	134073206	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:134073206G>A	ENST00000264360.4	+	1	2737	c.1911G>A	c.(1909-1911)gaG>gaA	p.E637E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	637	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCACCGGGGAGCTGCGCACAG	0.677000													31	191					0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31858882	31858882	+	Silent	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:31858882T>A	ENST00000343307.4	+	11	1097	c.948T>A	c.(946-948)atT>atA	p.I316I	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	316					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ATTTGGGAATTCCTAATACAG	0.348000													29	293					0	0	1	0	0
CHD6	0	broad.mit.edu	37	20	40049687	40049687	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:40049687T>C	ENST00000373233.3	-	31	5765	c.5588A>G	c.(5587-5589)cAc>cGc	p.H1863R		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1863					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ctcatcACTGTGGTTCTGACT	0.433000													189	225					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													17	1568					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122285009	122285009	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:122285009G>A	ENST00000543163.1	-	11	1036	c.591C>T	c.(589-591)atC>atT	p.I197I	HPD_ENST00000289004.4_Silent_p.I236I|HPD_ENST00000543869.2_5'UTR	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	236					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGGGCATCTTGATGGACTCTT	0.592000													101	323					0	0	1	0	0
PCDHB14	0	broad.mit.edu	37	5	140603142	140603142	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:140603142G>T	ENST00000239449.4	+	1	65	c.65G>T	c.(64-66)gGa>gTa	p.G22V	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		22					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTTGCTGGGATTGTCTCGG	0.478000													122	25					3.90656e-58	4.29592e-58	1	1	0
ANO1	55107	broad.mit.edu	37	11	69972275	69972275	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:69972275C>T	ENST00000355303.5	+	10	1376	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	ANO1_ENST00000538023.1_Silent_p.C357C|ANO1_ENST00000316296.5_Silent_p.C329C|ANO1_ENST00000398543.2_Silent_p.C241C|ANO1_ENST00000530676.1_Silent_p.C241C|ANO1_ENST00000531349.1_Silent_p.C92C	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	357					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGTACGGATGCGCCACCATGG	0.602000													4	227					0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24200926	24200926	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:24200926C>T	ENST00000382263.3	+	5	624	c.440C>T	c.(439-441)cCg>cTg	p.P147L	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.P15L|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.P147L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.P147L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	147					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CCTTACGAACCGCACTGTGAG	0.463000													93	244					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7842903	7842903	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:7842903C>T	ENST00000380262.3	+	8	1925	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	CNTROB_ENST00000380255.3_Missense_Mutation_p.R334W|CNTROB_ENST00000565740.1_Missense_Mutation_p.R334W|CNTROB_ENST00000563694.1_Missense_Mutation_p.R334W	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	334					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGGAAGAGCGGGATGCAGC	0.592000													6	699					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857205	90857205	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:90857205G>A	ENST00000394980.1	+	7	2693	c.2374G>A	c.(2374-2376)Gac>Aac	p.D792N	MMRN1_ENST00000264790.2_Missense_Mutation_p.D792N|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.D534N			Q13201	MMRN1_HUMAN	multimerin 1	792					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGGTCAATGACAATCAGAG	0.378000													10	306					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41277224	41277224	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:41277224C>T	ENST00000349496.5	+	11	1973	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	CTNNB1_ENST00000396185.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R565C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R565C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R558C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	565					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAGGGGGTCCGCATGGAAGA	0.403000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				8	632					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43316256	43316256	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:43316256G>A	ENST00000361428.2	-	6	2955	c.2878C>T	c.(2878-2880)Cgg>Tgg	p.R960W	ZNF318_ENST00000318149.3_Missense_Mutation_p.R960W	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	960					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCCTCTTGCCGTAGCTCTGCA	0.468000													7	860					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													6	71					0.0293803	0.0295589	1	1	0
HSPA12A	259217	broad.mit.edu	37	10	118460624	118460624	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:118460624C>T	ENST00000369209.3	-	4	375	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	91							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACACCAGGGTCACCTCCCTCC	0.527000													27	607					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46745230	46745230	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:46745230C>T	ENST00000343304.6	-	8	2362	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	693								p.E693Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCAACCATCTCAGGCAGAAAT	0.547000													7	509					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128923770	128923770	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:128923770G>A	ENST00000280333.6	+	26	2702	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	865					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATGATGACCGATCAGCTCAA	0.547000													5	258					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5218496	5218496	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:5218496G>A	ENST00000372412.4	-	25	4219	c.3986C>T	c.(3985-3987)gCc>gTc	p.A1329V	PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1328V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1328					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCGAGGTCGGCATTGTTCAG	0.527000													8	1295					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16254859	16254859	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:16254859G>T	ENST00000259727.4	+	4	472	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	120					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CCTGGAAGCTGTGCCACAGGT	0.448000													318	410					2.17704e-151	2.41003e-151	1	1	0
MAPRE3	22924	broad.mit.edu	37	2	27248501	27248501	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:27248501C>T	ENST00000233121.2	+	5	718	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	MAPRE3_ENST00000405074.3_Missense_Mutation_p.R159W|MAPRE3_ENST00000402218.1_Missense_Mutation_p.R159W			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	174					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTCTGGCCGGCTGAGCAA	0.577000													21	405					0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161888	1161888	+	Silent	SNP	G	G	A	rs151290339		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:1161888G>A	ENST00000381894.3	-	2	1046	c.375C>T	c.(373-375)tcC>tcT	p.S125S		NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	125						integral to membrane	protein binding										AAACGAGGGCGGAAACAAAGC	0.617000													5	553					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs113070757	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642000													5	168					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849914	35849914	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:35849914G>A	ENST00000327809.4	+	2	323	c.122G>A	c.(121-123)gGc>gAc	p.G41D	FFAR3_ENST00000594310.1_Missense_Mutation_p.G41D	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	41						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTCTTCGTGGGCAAGCTGCAG	0.637000													5	621					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153750295	153750295	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:153750295G>A	ENST00000271857.2	+	4	2239	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Silent_p.Q412Q			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	412					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGATTGCCAGCAGCACAGGG	0.592000													6	641					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31709908	31709908	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:31709908G>A	ENST00000261592.5	-	2	638	c.341C>T	c.(340-342)tCg>tTg	p.S114L	NOL4_ENST00000538587.1_Missense_Mutation_p.S40L|NOL4_ENST00000589544.1_Missense_Mutation_p.S114L|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	114						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CACATGCATCGAATAAATAAT	0.388000													151	431					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3284091	3284091	+	Silent	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:3284091C>G	ENST00000436008.2	-	10	2184	c.1722G>C	c.(1720-1722)gtG>gtC	p.V574V	SLC22A23_ENST00000380302.4_Silent_p.V285V|SLC22A23_ENST00000490273.1_Silent_p.V285V|SLC22A23_ENST00000406686.3_Silent_p.V566V|PSMG4_ENST00000451246.2_Intron			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	566					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				CGCACCTTATCACCGTCGGGG	0.587000													16	215					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													8	462					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7241475	7241475	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:7241475C>T	ENST00000542285.1	-	6	1022	c.873G>A	c.(871-873)tcG>tcA	p.S291S				P00736	C1R_HUMAN	complement component 1, r subcomponent	292	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGCTGTCCCCCGACTCATCTG	0.607000													10	50					0	0	1	0	0
SLC16A11	162515	broad.mit.edu	37	17	6945098	6945098	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:6945098G>A	ENST00000308009.1	-	4	1653	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	SLC16A11_ENST00000447225.1_Missense_Mutation_p.P407L	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	439						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						AGGCGTGGCTGGAGGGGAGGC	0.642000													4	217					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114063060	114063060	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:114063060C>T	ENST00000369422.3	+	10	980	c.980C>T	c.(979-981)gCc>gTc	p.A327V		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	327						anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGGATTTGTGCCGTGTTATAG	0.498000													6	865					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103298740	103298740	+	Splice_Site	SNP	A	A	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:103298740A>C	ENST00000376052.3	+	20	2506	c.2490_splice	c.e20+1	p.Q830_splice	TPP2_ENST00000376065.4_Splice_Site_p.Q830_splice			P29144	TPP2_HUMAN	tripeptidyl peptidase II	830					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTTTCATCAAGTAAGTGTTT	0.343000													78	166					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627000													14	2030					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508584	106508584	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:106508584C>T	ENST00000359195.3	+	2	888	c.578C>T	c.(577-579)cCc>cTc	p.P193L	PIK3CG_ENST00000496166.1_Missense_Mutation_p.P193L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P193L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	193					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCCGCGACCCCAAGCTCTAC	0.617000													28	441					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													5	425					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:77354692G>A	ENST00000451710.3	-	33	5683	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W	TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488000													6	817					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7750709	7750709	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:7750709G>C	ENST00000254846.5	+	10	1585	c.1196G>C	c.(1195-1197)aGc>aCc	p.S399T	KDM6B_ENST00000448097.2_Missense_Mutation_p.S399T	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	399	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S399T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCACCACcagcagcagcagt	0.672000													5	604					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57243042	57243042	+	Silent	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:57243042T>C	ENST00000537866.1	+	4	1332	c.459T>C	c.(457-459)gaT>gaC	p.D153D	RSPRY1_ENST00000394420.4_Silent_p.D153D			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	153						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CACTGGAAGATCCACTGGGAC	0.338000													87	752					0	0	1	0	0
AGAP2-AS1	0	broad.mit.edu	37	12	58121196	58121196	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:58121196G>A	ENST00000542466.2	+	2	557	c.421G>A	c.(421-423)Gcg>Acg	p.A141T	AGAP2_ENST00000257897.3_Silent_p.R653R|AGAP2_ENST00000547588.1_Silent_p.R1009R																							TTTCCCACACGCGGTTGGCCG	0.672000													56	9					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26273464	26273464	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:26273464A>G	ENST00000381655.2	+	25	2507	c.2365A>G	c.(2365-2367)Aaa>Gaa	p.K789E	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.K749E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	749					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCTCGTGCAAAGCGGTCAT	0.532000													14	288					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													6	160					0	0	1	0	0
PXMP4	11264	broad.mit.edu	37	20	32295669	32295669	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:32295669G>A	ENST00000409299.3	-	4	574	c.482C>T	c.(481-483)gCg>gTg	p.A161V	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	161						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CCACACCACCGCAGTGAGCAG	0.602000													8	680					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807925	50807925	+	Missense_Mutation	SNP	G	G	A	rs140210899	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:50807925G>A	ENST00000263046.4	+	7	1190	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	TFAP2B_ENST00000393655.3_Missense_Mutation_p.A333T			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	333					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGAGTTTCCCGCCAAAGCCGT	0.488000													7	784					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116045781	116045781	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:116045781C>T	ENST00000603594.1	+	11	1402	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	VWA2_ENST00000392982.3_Missense_Mutation_p.R361W	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	361	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CGGCTTCCTGCGGGCCAAAGT	0.652000													6	968					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64595249	64595249	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:64595249G>A	ENST00000342711.5	-	31	3973	c.3974C>T	c.(3973-3975)gCg>gTg	p.A1325V		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1325	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GTAGGGGGCCGCATACCCTGC	0.602000													4	177					0	0	1	0	0
FAM209A	200232	broad.mit.edu	37	20	55100020	55100020	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:55100020C>T	ENST00000371328.3	+	1	479	c.156C>T	c.(154-156)acC>acT	p.T52T	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A																		CAGAGCACACCCAAGGCTGGC	0.483000													46	542					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219674321	219674321	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:219674321G>A	ENST00000258415.4	+	2	704	c.277G>A	c.(277-279)Ggt>Agt	p.G93S		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	93					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GGCCAAGTACGGTCCAATGTG	0.557000													21	433					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274343	39274343	+	Silent	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:39274343A>G	ENST00000391413.2	-	1	263	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	75	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGGGCGACAGCAGCTGG	0.657000													6	419					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118316	120118316	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:120118316C>T	ENST00000332843.2	+	6	761	c.720C>T	c.(718-720)agC>agT	p.S240S		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	240	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGGAACCCAGCGACCCCTATG	0.493000													156	211					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:100350361T>C	ENST00000542585.1	+	0	2781				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													7	725					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													6	226					0.0293803	0.0295589	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84659900	84659900	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:84659900G>T	ENST00000286744.5	+	23	4131	c.3907G>T	c.(3907-3909)Gtt>Ttt	p.V1303F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1303F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1303	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCATCTGTCTGTTGTGGTTGG	0.468000													7	708					0.248553	0.249306	1	1	0
TUBA3C	7278	broad.mit.edu	37	13	19752465	19752465	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:19752465G>A	ENST00000400113.3	-	3	400	c.296C>T	c.(295-297)gCg>gTg	p.A99V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	99					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATTATTGGCCGCATCTTCCTT	0.522000													7	923					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75527671	75527671	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:75527671T>A	ENST00000339365.2	+	16	2249	c.2087T>A	c.(2086-2088)cTc>cAc	p.L696H	SEC24C_ENST00000411652.2_Missense_Mutation_p.L577H|SEC24C_ENST00000345254.4_Missense_Mutation_p.L696H|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	696					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGTGTAGATCTCTTTCTCTTC	0.522000													12	771					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661312	22661312	+	RNA	SNP	T	T	C	rs3855711		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:22661312T>C	ENST00000426066.1	+	0	360					NR_027293.1																						TGAATTTGTGTAGAACTTTGA	0.473000													10	287					0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14205233	14205233	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:14205233G>A	ENST00000360954.2	+	1	834	c.398G>A	c.(397-399)gGg>gAg	p.G133E		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	133					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		AGTGGGTCTGGGAGCAAGCAG	0.682000													38	52					0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26950643	26950643	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:26950643G>A	ENST00000302909.3	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	131					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGCGAGCGCATCAACACC	0.652000													6	556					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14661065	14661065	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:14661065C>T	ENST00000403951.2	-	15	1644	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	DGKB_ENST00000399322.3_Missense_Mutation_p.V409M|DGKB_ENST00000402815.1_Missense_Mutation_p.V408M|DGKB_ENST00000444700.2_Missense_Mutation_p.V390M|DGKB_ENST00000406247.3_Missense_Mutation_p.V409M|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.V401M|DGKB_ENST00000258767.5_Missense_Mutation_p.V409M			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	409					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTGTCAATCACTTTGTTTGGC	0.313000													17	159					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50781417	50781417	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:50781417G>A	ENST00000440075.2	+	30	3950	c.3903G>A	c.(3901-3903)ctG>ctA	p.L1301L	MYH14_ENST00000598205.1_Silent_p.L1268L|MYH14_ENST00000596571.1_Silent_p.L1260L|MYH14_ENST00000601313.1_Silent_p.L1301L|MYH14_ENST00000376970.2_Silent_p.L1293L|MYH14_ENST00000262269.8_Silent_p.L1301L|MYH14_ENST00000425460.1_Silent_p.L1268L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1260					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGAGCAGCCTGCAGACTGCAC	0.677000													4	139					0	0	1	0	0
KIAA1456	57604	broad.mit.edu	37	8	12870280	12870280	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:12870280G>A	ENST00000524591.2	+	4	731	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	KIAA1456_ENST00000447063.2_Missense_Mutation_p.R81Q	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	81							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAGATTGCCCGGAATAGAGGA	0.483000													5	420					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64667008	64667008	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:64667008T>C	ENST00000498707.1	-	3	890	c.548A>G	c.(547-549)tAt>tGt	p.Y183C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y183C|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Y183C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	183					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTCAATAAAATAATCCCCATC	0.448000													21	257					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91162380	91162380	+	Silent	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:91162380T>A	ENST00000546318.1	+	2	1542	c.255T>A	c.(253-255)acT>acA	p.T85T	IFIT1_ENST00000371804.3_Silent_p.T116T|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	116					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGCCCAGACTTACCTGGACA	0.493000													118	259					0	0	1	0	0
SSTR1	0	broad.mit.edu	37	14	38678919	38678919	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:38678919C>A	ENST00000267377.2	+	3	942	c.325C>A	c.(325-327)Ctc>Atc	p.L109I		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	109					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCTGCTCATGCTCAGCGTGCC	0.567000													5	520					0.0293803	0.0295589	1	1	0
ZXDC	79364	broad.mit.edu	37	3	126194437	126194437	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:126194437G>A	ENST00000389709.3	-	1	325	c.272C>T	c.(271-273)gCc>gTc	p.A91V	ZXDC_ENST00000336332.5_Missense_Mutation_p.A91V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	91					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CTGTGATCCGGCAGCCTCGGC	0.776000													4	120					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751750	73751750	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:73751750G>A	ENST00000342056.2	+	3	979	c.581G>A	c.(580-582)aGa>aAa	p.R194K	KCNQ5_ENST00000414165.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R194K|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R194K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R194K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R194K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	194					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGCAAGGAAGACTGAGGTTT	0.428000													54	858					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168034905	168034905	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:168034905G>A	ENST00000367840.3	+	19	2611	c.2517G>A	c.(2515-2517)cgG>cgA	p.R839R	DCAF6_ENST00000312263.6_Silent_p.R748R|DCAF6_ENST00000432587.2_Silent_p.R808R|DCAF6_ENST00000367843.3_Silent_p.R768R	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	748					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTGGGATCGGCACACTGCTG	0.413000													5	397					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106826185	106826185	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:106826185G>A	ENST00000228347.4	+	15	1776	c.1554G>A	c.(1552-1554)ttG>ttA	p.L518L	POLR3B_ENST00000539066.1_Silent_p.L460L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	518					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGTAACTTGGGAGTAGAAG	0.373000													65	329					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178951994	178951994	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:178951994G>A	ENST00000263967.3	+	21	3206	c.3049G>A	c.(3049-3051)Gat>Aat	p.D1017N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1017	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D1017H(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACAATCTTTTGATGACATTGC	0.393000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			174	243					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	803512	803512	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:803512C>G	ENST00000297440.6	+	8	1704	c.1684C>G	c.(1684-1686)Cac>Gac	p.H562D	HEATR2_ENST00000313147.5_Missense_Mutation_p.H562D	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	562							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCGCAAGCACATTGGTCC	0.607000													287	445					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507000													13	1037					0.000422831	0.000431967	1	1	0
EGLN2	112398	broad.mit.edu	37	19	41307036	41307036	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:41307036C>T	ENST00000593726.1	+	1	1587	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R187W|EGLN2_ENST00000303961.4_Missense_Mutation_p.R187W			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	187					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	p.R187W(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCCCTGCATGCGGTACTACGG	0.692000													6	835					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29848107	29848107	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:29848107G>T	ENST00000357402.5	+	7	875	c.737G>T	c.(736-738)gGg>gTg	p.G246V	MVP_ENST00000452209.2_Missense_Mutation_p.W60C|MVP_ENST00000395353.1_Missense_Mutation_p.G246V	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	246					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCCGCACTGGGGAGGAGTGG	0.647000													21	262					2.39556e-15	2.56612e-15	1	1	0
TG	7038	broad.mit.edu	37	8	134125688	134125688	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:134125688G>A	ENST00000220616.4	+	44	7635	c.7595G>A	c.(7594-7596)cGg>cAg	p.R2532Q	TG_ENST00000519543.1_Missense_Mutation_p.R665Q|TG_ENST00000377869.1_Missense_Mutation_p.R2475Q|TG_ENST00000542445.1_Missense_Mutation_p.R902Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2532					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTCGAGGCCGGACCAGTAGC	0.483000													5	430					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25668727	25668727	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:25668727C>T	ENST00000435706.2	-	16	2153	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	TOP2B_ENST00000264331.4_Missense_Mutation_p.R656H			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	656					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.R651H(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAACAAGATGCGATGCCTTTC	0.353000													322	416					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714204	38714204	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:38714204A>T	ENST00000308742.4	+	3	927	c.611A>T	c.(610-612)aAg>aTg	p.K204M	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	204					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATTGCACAAAAGTTAACTGAG	0.388000													172	471					0	0	1	0	0
RAB7L1	8934	broad.mit.edu	37	1	205741648	205741648	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:205741648G>A	ENST00000367139.3	-	3	475	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R58W|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R58W	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	58					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGCTGAAGCCGCACTATCTCG	0.373000													10	1700					0	0	1	0	0
MMS19	64210	broad.mit.edu	37	10	99219886	99219886	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:99219886G>A	ENST00000438925.2	-	26	2908	c.2573C>T	c.(2572-2574)gCc>gTc	p.A858V	MMS19_ENST00000370782.2_Missense_Mutation_p.A858V|MMS19_ENST00000355839.6_Missense_Mutation_p.A815V|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.A760V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	858					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CCGCACTTCGGCATGGCCAGC	0.557000								Direct reversal of damage					6	504					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													8	521					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56472575	56472575	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:56472575C>T	ENST00000370754.5	-	39	6751	c.6752G>A	c.(6751-6753)tGt>tAt	p.C2251Y	DST_ENST00000370769.4_Missense_Mutation_p.C2073Y|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.C2073Y|DST_ENST00000446842.2_Missense_Mutation_p.C1747Y|DST_ENST00000361203.3_Missense_Mutation_p.C2073Y			Q03001	DYST_HUMAN	dystonin	2073					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTTCTCCACAGTGACATTT	0.338000													198	272					0	0	1	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331253	82331253	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:82331253C>T	ENST00000339284.2	+	3	844	c.414C>T	c.(412-414)atC>atT	p.I138I	SH2D4B_ENST00000313455.4_Silent_p.I89I|SH2D4B_ENST00000470604.2_Silent_p.I137I	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	137	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AAGCCCGGATCTTGGCGGAGA	0.557000													66	465					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916473	10916473	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr21:10916473C>A	ENST00000298232.7	-	19	1486	c.1119G>T	c.(1117-1119)aaG>aaT	p.K373N	TPTE_ENST00000361285.4_Missense_Mutation_p.K391N|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.K353N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	391	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338000													6	431					0.00116845	0.00119002	1	1	0
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448000													10	1250					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577000													9	1537					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													6	208					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7218087	7218087	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:7218087G>A	ENST00000361972.4	-	17	1939	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R617W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	617					regulation of transcription, DNA-dependent	nucleus		p.R617G(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCAGATGTCCGTACGATTTTG	0.468000													8	848					0	0	1	0	0
TMEM255A	55026	broad.mit.edu	37	X	119425154	119425154	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:119425154C>T	ENST00000371369.4	-	4	532	c.306G>A	c.(304-306)gcG>gcA	p.A102A	TMEM255A_ENST00000440464.1_Silent_p.A102A|TMEM255A_ENST00000309720.5_Silent_p.A102A	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		AACAAAAAGCCGCAATCACAC	0.468000													68	14					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082377	152082377	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152082377G>A	ENST00000368804.1	-	2	3315	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1106	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTCTCCCGCTCCTGGCGC	0.617000													8	1264					0	0	1	0	0
PCDHA12	0	broad.mit.edu	37	5	140256419	140256419	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:140256419G>A	ENST00000398631.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652000													374	89					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276565	186276565	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276565A>G	ENST00000445192.2	+	7	1759	c.1714A>G	c.(1714-1716)Acc>Gcc	p.T572A	PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T572A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACCACCCCCAAGAA	0.642000													15	914					0	0	1	0	0
EGLN3	112399	broad.mit.edu	37	14	34419830	34419830	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:34419830G>A	ENST00000547327.2	-	1	457	c.129C>T	c.(127-129)gtC>gtT	p.V43V	EGLN3_ENST00000250457.3_Silent_p.V43V|EGLN3_ENST00000553215.1_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	43					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CGCGCTCCAGGACGCAGTCGC	0.692000													22	136					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31241680	31241680	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:31241680C>T	ENST00000269197.5	+	5	456	c.456C>T	c.(454-456)caC>caT	p.H152H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCAGCAGCACACCAAAAAGG	0.408000													11	179					0	0	1	0	0
SNHG1	0	broad.mit.edu	37	11	62620497	62620497	+	RNA	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:62620497C>G	ENST00000384756.1	-	0	10					NR_000008.2																						GTGAAAGTTTCTTCATTGGGA	0.453000													32	306					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115364582	115364582	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:115364582C>T	ENST00000369358.4	-	35	4281	c.4037G>A	c.(4036-4038)gGc>gAc	p.G1346D	NRAP_ENST00000360478.3_Missense_Mutation_p.G1303D|NRAP_ENST00000369360.3_Missense_Mutation_p.G1311D|NRAP_ENST00000359988.3_Missense_Mutation_p.G1338D			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1338						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTGCAGCTGGCCCATGCGCCG	0.592000													6	930					0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145066693	145066693	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:145066693A>G	ENST00000313269.5	+	6	1161	c.883A>G	c.(883-885)Atc>Gtc	p.I295V	GRINA_ENST00000395068.4_Missense_Mutation_p.I295V	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	295						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGCTCTTCATCTTCGCCAT	0.617000													78	122					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													14	373					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151023709	151023709	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:151023709G>A	ENST00000296550.7	+	2	1255	c.501G>A	c.(499-501)gtG>gtA	p.V167V	DCLK2_ENST00000302176.8_Silent_p.V167V|DCLK2_ENST00000506325.1_Silent_p.V167V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	167					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTGGTCTGTGAACATCAAGG	0.403000													26	176					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53543466	53543466	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:53543466C>G	ENST00000371500.3	+	9	1276	c.935C>G	c.(934-936)aCc>aGc	p.T312S	PODN_ENST00000312553.5_Missense_Mutation_p.T331S|PODN_ENST00000395871.2_Missense_Mutation_p.T189S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	283					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACAACGAGACCTTCTGGTGA	0.642000													47	240					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851964	63851964	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:63851964G>A	ENST00000279873.7	+	10	3152	c.2742G>A	c.(2740-2742)ccG>ccA	p.P914P	ARID5B_ENST00000309334.5_Silent_p.P671P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	914					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCAAGAACCCGCACAAACCTA	0.572000													8	1064					0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22862387	22862387	+	Splice_Site	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:22862387C>T	ENST00000376573.4	-	5	721		c.e5-1		PIP4K2A_ENST00000422321.1_Splice_Site|PIP4K2A_ENST00000323883.7_Splice_Site|PIP4K2A_ENST00000545335.1_Splice_Site	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha								1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CCACTATGTACTGCATAGGAG	0.373000													87	216					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276564	186276564	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276564C>T	ENST00000445192.2	+	7	1758	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	PRG4_ENST00000367485.4_Silent_p.T478T|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T530T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	571	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T571T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGA	0.642000													14	963					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48313734	48313734	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:48313734G>A	ENST00000435803.1	+	17	4495	c.4471G>A	c.(4471-4473)Gct>Act	p.A1491T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1491					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATTTTATTAGCTCTTTTAAA	0.294000													48	76					0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567000													7	1135					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91674456	91674456	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:91674456C>A	ENST00000359028.2	+	22	5558	c.5333C>A	c.(5332-5334)tCt>tAt	p.S1778Y	AKAP9_ENST00000358100.2_Missense_Mutation_p.S1778Y|AKAP9_ENST00000356239.3_Missense_Mutation_p.S1766Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1778					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGCCAGTCATCTGCCAGCCTA	0.418000			T	BRAF	papillary thyroid								252	306					6.46175e-136	7.12947e-136	1	1	0
MCPH1	79648	broad.mit.edu	37	8	6301971	6301971	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:6301971G>T	ENST00000344683.5	+	8	804	c.728G>T	c.(727-729)gGa>gTa	p.G243V	MCPH1_ENST00000519480.1_Missense_Mutation_p.G243V|MCPH1_ENST00000522905.1_Missense_Mutation_p.G195V	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	243						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGAAACTCAGGATGTGGAAAT	0.338000													86	320					1.56177e-18	1.68937e-18	1	1	0
DAP3	7818	broad.mit.edu	37	1	155686900	155686900	+	Missense_Mutation	SNP	G	G	A	rs149919712		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:155686900G>A	ENST00000368336.5	+	3	273	c.149G>A	c.(148-150)cGc>cAc	p.R50H	DAP3_ENST00000535183.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.R50H|DAP3_ENST00000343043.3_Missense_Mutation_p.R50H|DAP3_ENST00000471214.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	50					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCTATTTCCCGCACCAATGAG	0.473000													8	1101					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179546424	179546424	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:179546424G>A	ENST00000589042.1	-	136	33360	c.33136C>T	c.(33136-33138)Cca>Tca	p.P11046S	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9802S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10729S|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10729	Glu-rich.|Pro-rich.						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)			GTGGGAACTGGTTCTTCTGGG	0.383000													27	465					0	0	1	0	0
FXR1	0	broad.mit.edu	37	3	180688069	180688069	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:180688069G>A	ENST00000357559.4	+	15	1910	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	FXR1_ENST00000305586.7_Missense_Mutation_p.R424Q|FXR1_ENST00000445140.2_Missense_Mutation_p.R509Q|FXR1_ENST00000468861.1_Missense_Mutation_p.R424Q|FXR1_ENST00000491062.1_Missense_Mutation_p.R460Q|FXR1_ENST00000480918.1_Missense_Mutation_p.R496Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	509	Poly-Arg.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TCTCGTAGACGAAGGACTGAT	0.443000													26	418					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35800075	35800075	+	Silent	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:35800075G>T	ENST00000342694.2	+	4	1299	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	348					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGAAGTCCTGAATGAGACAA	0.502000													55	897					6.08268e-21	6.6012e-21	1	1	0
THBD	7056	broad.mit.edu	37	20	23029062	23029062	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:23029062G>A	ENST00000377103.2	-	1	1316	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	360	EGF-like 3; calcium-binding (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CCACACACTCGCCGTCCACCA	0.617000													68	350					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580666	40580666	+	Silent	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:40580666T>C	ENST00000450241.2	-	6	1892	c.1581A>G	c.(1579-1581)gaA>gaG	p.E527E	ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000594395.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E561E			O75290	Z780A_HUMAN	zinc finger protein 780A	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388000													5	804					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599641	116599641	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:116599641G>A	ENST00000395715.3	-	5	2864	c.2287C>T	c.(2287-2289)Cta>Tta	p.L763L	TRPS1_ENST00000520276.1_Silent_p.L754L|TRPS1_ENST00000220888.5_Silent_p.L750L|TRPS1_ENST00000519674.1_Silent_p.L750L|TRPS1_ENST00000519076.1_Silent_p.L504L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	750	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTGGAGTTAGCAGATTGTAG	0.498000									Langer-Giedion syndrome				164	1068					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276075	186276075	+	Silent	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276075T>C	ENST00000445192.2	+	7	1269	c.1224T>C	c.(1222-1224)acT>acC	p.T408T	PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T367T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	408	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T408T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.662000													37	1213					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													7	151					0	0	1	0	0
NSL1	25936	broad.mit.edu	37	1	212911779	212911779	+	Missense_Mutation	SNP	G	G	A	rs147647532		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:212911779G>A	ENST00000366977.3	-	6	835	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	NSL1_ENST00000366975.6_Missense_Mutation_p.R232W|NSL1_ENST00000366978.1_Intron|NSL1_ENST00000422588.2_3'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	273					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TTCTTTGGCCGCAATGGATAC	0.388000													7	1222					0	0	1	0	0
TP53INP1	0	broad.mit.edu	37	8	95942776	95942776	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:95942776G>A	ENST00000342697.4	-	4	1061	c.654C>T	c.(652-654)tgC>tgT	p.C218C	TP53INP1_ENST00000448464.2_3'UTR|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.C163C	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	218					apoptosis	PML body		p.C218C(2)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GCCGAGGGTGGCAATCCCTGG	0.468000													6	926					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51219944	51219944	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:51219944C>T	ENST00000293441.1	-	1	251	c.233G>A	c.(232-234)gGc>gAc	p.G78D	SHANK1_ENST00000391814.1_Missense_Mutation_p.G78D|SHANK1_ENST00000359082.3_Missense_Mutation_p.G78D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	78					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCCGGGATGCCAATCCTGAA	0.632000													6	493					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1191										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483000													7	707					2.0095e-06	2.09165e-06	1	1	0
SPATA18	132671	broad.mit.edu	37	4	52938112	52938112	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:52938112C>T	ENST00000295213.4	+	6	922	c.548C>T	c.(547-549)gCc>gTc	p.A183V	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.A151V	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	183					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGGAGGATGCCCGCCACAGA	0.547000													4	185					0	0	1	0	0
RMDN3	55177	broad.mit.edu	37	15	41043687	41043687	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:41043687G>T	ENST00000260385.6	-	3	1528	c.461C>A	c.(460-462)tCc>tAc	p.S154Y	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.S154Y					regulator of microtubule dynamics 3																		GACAGAGCTGGAGCCAGTGGA	0.587000													351	68					5.12724e-156	5.69502e-156	1	1	0
SMAD3	4088	broad.mit.edu	37	15	67482873	67482873	+	Nonstop_Mutation	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:67482873A>T	ENST00000327367.4	+	9	1587	c.1277A>T	c.(1276-1278)tAg>tTg	p.*426L	SMAD3_ENST00000439724.3_Nonstop_Mutation_p.*382L|SMAD3_ENST00000540846.2_Nonstop_Mutation_p.*321L|SMAD3_ENST00000537194.2_Nonstop_Mutation_p.*231L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	0					activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGTGTGTCTTAGAGACATCAA	0.537000													89	23					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169847419	169847419	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:169847419G>A	ENST00000263817.6	-	9	924	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	267	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTCATAGTCCGTAAACTTGGA	0.403000													5	595					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885651	39885651	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:39885651G>A	ENST00000260356.5	+	19	3214	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1017	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CATCAACACCGAAAGGGACGA	0.493000													6	755					0	0	1	0	0
GRIA4	0	broad.mit.edu	37	11	105483022	105483022	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:105483022C>T	ENST00000393127.2	+	3	554	c.108C>T	c.(106-108)aaC>aaT	p.N36N	GRIA4_ENST00000527669.1_Silent_p.N36N|GRIA4_ENST00000393125.2_Silent_p.N36N|GRIA4_ENST00000428631.2_Silent_p.N36N|GRIA4_ENST00000282499.5_Silent_p.N36N|GRIA4_ENST00000525187.1_Silent_p.N36N|GRIA4_ENST00000530497.1_Silent_p.N36N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	36					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)	TCATCCGAAACACAGATCAGG	0.418000													20	315					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	rs113946258		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592000													6	722					0	0	1	0	0
NELFE	7936	broad.mit.edu	37	6	31922199	31922199	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:31922199G>A	ENST00000375429.3	-	8	989	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	NELFE_ENST00000444811.2_Missense_Mutation_p.R225W|NELFE_ENST00000375425.5_Missense_Mutation_p.R262W	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		GGGGCTCGCCGTTCAGGGAAT	0.468000													5	521					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45005372	45005372	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:45005372G>A	ENST00000258787.7	-	17	2381	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	749						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGGTGAGCCCGCACCTTGTGT	0.682000													5	435					0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048170	105048170	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:105048170C>T	ENST00000369849.4	+	3	1293	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	415	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTAAGCATTTCGGGGCTGAAT	0.453000													352	700					0	0	1	0	0
COMT	1312	broad.mit.edu	37	22	19956208	19956208	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:19956208C>T	ENST00000361682.6	+	6	1147	c.765C>T	c.(763-765)gaC>gaT	p.D255D	COMT_ENST00000407537.1_Silent_p.D205D|COMT_ENST00000406520.3_Silent_p.D255D|COMT_ENST00000449653.1_Silent_p.D205D|COMT_ENST00000403710.1_Silent_p.D255D	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	255					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	AGGTGGTGGACGGCCTGGAGA	0.647000													6	288					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17794108	17794108	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:17794108G>A	ENST00000379472.3	+	2	1497	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	KCNC1_ENST00000265969.6_Silent_p.P489P	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	489						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACACATGTCCGCTGGCCCAGG	0.478000													5	376					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538264	4538264	+	Silent	SNP	G	G	A	rs142530537	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:4538264G>A	ENST00000306390.6	-	2	1192	c.732C>T	c.(730-732)aaC>aaT	p.N244N	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	244						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTGTTGCCGTTCAGGAAGA	0.592000													9	1597					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51618013	51618013	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:51618013C>T	ENST00000371117.3	-	57	9211	c.8936G>A	c.(8935-8937)cGa>cAa	p.R2979Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2979Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2979					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATTCTTCTCGGCTGGACTT	0.443000													213	305					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156287015	156287015	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156287015G>A	ENST00000295688.3	-	10	1196	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	CCT3_ENST00000472765.2_Missense_Mutation_p.R261W|CCT3_ENST00000368259.2_Missense_Mutation_p.R268W|CCT3_ENST00000368261.3_Missense_Mutation_p.R261W	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	306					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATATTGGCCCGCATAAGGTAG	0.438000													7	816					0	0	1	0	0
RP11-347C12.2	0	broad.mit.edu	37	16	30309813	30309813	+	RNA	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:30309813C>A	ENST00000411546.3	-	0	1014					NR_002453.4																						TTTGCTAAAACTCCACTTGAA	0.428000													6	80					1.06961e-07	1.12394e-07	1	1	0
DLX3	1747	broad.mit.edu	37	17	48072343	48072343	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:48072343C>T	ENST00000434704.2	-	1	245	c.20G>A	c.(19-21)cGc>cAc	p.R7H		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	7						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCTGAGCTTGCGATCGAAGGA	0.647000													4	205					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128035019	128035019	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:128035019G>A	ENST00000338791.6	-	14	1824	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	IMPDH1_ENST00000378717.4_Missense_Mutation_p.R423W|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R459W|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R482W|IMPDH1_ENST00000348127.6_Missense_Mutation_p.R456W|IMPDH1_ENST00000496200.1_Missense_Mutation_p.R382W|IMPDH1_ENST00000343214.4_Missense_Mutation_p.R382W|IMPDH1_ENST00000480861.1_Missense_Mutation_p.R402W|IMPDH1_ENST00000470772.1_Missense_Mutation_p.R406W	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	407					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TTCTTGAGCCGCACCCCGTCT	0.617000													6	554					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								15	368					0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156692	26156692	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:26156692G>A	ENST00000304218.3	+	1	134	c.74G>A	c.(73-75)cGc>cAc	p.R25H		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	25					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.R25P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGAAGGCCCGCAAGTCTGCA	0.647000													7	540					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34310682	34310682	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:34310682G>A	ENST00000257209.4	+	17	3088	c.2966G>A	c.(2965-2967)gGt>gAt	p.G989D	FHOD3_ENST00000591635.1_Missense_Mutation_p.G185D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G951D|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.G1164D|FHOD3_ENST00000359247.4_Missense_Mutation_p.G972D	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	972	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATCAATATTGGTCTGACGGTG	0.428000													6	691					0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133478560	133478560	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:133478560A>T	ENST00000395029.1	+	7	1099	c.904A>T	c.(904-906)Atc>Ttc	p.I302F	TCF7_ENST00000378564.1_Missense_Mutation_p.I302F|TCF7_ENST00000518915.1_Missense_Mutation_p.I187F|TCF7_ENST00000520958.1_Missense_Mutation_p.I187F|TCF7_ENST00000378560.4_Missense_Mutation_p.I187F|TCF7_ENST00000321584.4_Missense_Mutation_p.I302F|TCF7_ENST00000432532.2_Missense_Mutation_p.I187F|TCF7_ENST00000342854.5_Missense_Mutation_p.I302F|TCF7_ENST00000395023.1_Missense_Mutation_p.I187F|TCF7_ENST00000321603.6_Missense_Mutation_p.I302F			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	302					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCAACCAGATCCTGGGCCG	0.587000													23	208					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836069	43836069	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:43836069A>G	ENST00000372781.3	+	2	188	c.131A>G	c.(130-132)aAg>aGg	p.K44R	SEMG1_ENST00000244069.6_Missense_Mutation_p.K44R	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CACGGACAAAAGGGCCAGCAC	0.388000													5	740					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34855150	34855150	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:34855150G>A	ENST00000420428.2	-	4	900	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	CELF4_ENST00000412753.1_Missense_Mutation_p.R169C|CELF4_ENST00000603232.1_Missense_Mutation_p.R169C|CELF4_ENST00000588597.1_Missense_Mutation_p.R158C|CELF4_ENST00000591282.1_Missense_Mutation_p.R169C|CELF4_ENST00000591287.1_Missense_Mutation_p.R168C|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.R159C|CELF4_ENST00000361795.5_Missense_Mutation_p.R168C|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000601019.1_Missense_Mutation_p.R168C	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	169	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AAAAGGCGGCGCACGTCGTCC	0.622000													6	918					0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103826768	103826768	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:103826768C>T	ENST00000296422.7	-	11	1376	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	SLC9B1_ENST00000394789.3_Missense_Mutation_p.R412Q|SLC9B1_ENST00000512651.2_Intron	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	412						integral to membrane	solute:hydrogen antiporter activity										GGTTAAAATTCGAACACATAA	0.338000													5	437					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645692	186645692	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186645692G>A	ENST00000367468.5	-	7	1013	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TTGTGTTCCCGCAGCCAGATT	0.507000													8	993					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													7	1290					0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211652533	211652533	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:211652533G>A	ENST00000367002.4	-	3	1596	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	145					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CCGCGGGGCCGCAGGCTCCAC	0.682000													4	206					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117099537	117099537	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:117099537G>A	ENST00000307564.4	-	22	4278	c.4117C>T	c.(4117-4119)Ccg>Tcg	p.P1373S	AKNA_ENST00000223791.3_Missense_Mutation_p.P833S|AKNA_ENST00000374088.3_Missense_Mutation_p.P1373S|AKNA_ENST00000374079.4_Missense_Mutation_p.P318S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.P1292S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCTGTGGGCGGCCACTTGGCA	0.652000													5	382					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78212618	78212618	+	RNA	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562000													6	155					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276451	186276451	+	Missense_Mutation	SNP	A	A	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276451A>C	ENST00000445192.2	+	7	1645	c.1600A>C	c.(1600-1602)Acc>Ccc	p.T534P	PRG4_ENST00000367485.4_Missense_Mutation_p.T441P|PRG4_ENST00000367486.3_Missense_Mutation_p.T491P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T493P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	534	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACTACCAAGGAGCC	0.632000													17	1289					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834899	61834899	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:61834899G>A	ENST00000280772.1	-	37	5931	c.5740C>T	c.(5740-5742)Cgg>Tgg	p.R1914W	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1914					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCGGTCATCCGCATTAGGTCC	0.438000													28	364					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579038	55579038	+	Silent	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:55579038T>A	ENST00000333973.2	+	1	185	c.96T>A	c.(94-96)ctT>ctA	p.L32L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCTGTTCCTTCTCATCTATG	0.512000													90	869					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75527672	75527672	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:75527672C>T	ENST00000339365.2	+	16	2250	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L	SEC24C_ENST00000411652.2_Silent_p.L577L|SEC24C_ENST00000345254.4_Silent_p.L696L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	696					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTGTAGATCTCTTTCTCTTCC	0.522000													11	765					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230805103	230805103	+	Splice_Site	SNP	G	G	A	rs147719039		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:230805103G>A	ENST00000534989.1	+	7	754	c.417_splice	c.e7-1	p.R140_splice	COG2_ENST00000366668.3_Splice_Site_p.R199_splice|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000535166.1_Splice_Site_p.R83_splice|COG2_ENST00000366669.4_Splice_Site_p.R199_splice			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	199					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	p.R199H(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTCTTGCAGCGTATAGCTGGC	0.418000													6	864					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139145029	139145029	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:139145029G>T	ENST00000395297.1	-	20	4198	c.4028C>A	c.(4027-4029)gCa>gAa	p.A1343E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1343										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCATTTCTGCATAAACTGG	0.493000										HNSCC(54;0.14)			65	917					2.93687e-30	3.19771e-30	1	1	0
UBAP2	55833	broad.mit.edu	37	9	33948659	33948659	+	Translation_Start_Site	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:33948659T>C	ENST00000379225.1	-	0	305				UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379238.1_Intron|UBAP2_ENST00000360802.1_Intron|UBAP2_ENST00000449054.1_Intron|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACATATCAAGTATTTTCACAA	0.294000													94	109					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94042405	94042405	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:94042405G>A	ENST00000297268.6	+	26	1985	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	505					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGATCCTGGCAAAAACGGT	0.398000										HNSCC(75;0.22)			6	891					0	0	1	0	0
ENDOV	284131	broad.mit.edu	37	17	78409975	78409975	+	Missense_Mutation	SNP	A	A	G	rs12939348	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:78409975A>G	ENST00000520284.1	+	6	593	c.175A>G	c.(175-177)Att>Gtt	p.I59V	ENDOV_ENST00000518907.1_Missense_Mutation_p.I59V|ENDOV_ENST00000517795.1_3'UTR|ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000518137.1_3'UTR|ENDOV_ENST00000518901.1_3'UTR			Q8N8Q3	ENDOV_HUMAN	endonuclease V	0					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						tcctcgtctcattcctgatcG	0.532000								Direct reversal of damage					5	203					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875338	247875338	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:247875338C>T	ENST00000302084.2	-	1	767	c.720G>A	c.(718-720)acG>acA	p.T240T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCGAGGAGCACGTGGAGAAGG	0.527000													85	905					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	132915167	132915167	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:132915167C>T	ENST00000368642.4	-	9	1375	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	430										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCTTTGCCTCCTCTGGCTTGG	0.582000													27	68					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197097650	197097650	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:197097650G>A	ENST00000367409.4	-	10	3162	c.2906C>T	c.(2905-2907)gCc>gTc	p.A969V	ASPM_ENST00000294732.7_Missense_Mutation_p.A969V|ASPM_ENST00000367408.1_Missense_Mutation_p.A219V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	969	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAAGTCTACGGCAAGATTTGT	0.383000													6	934					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8135782	8135782	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:8135782G>A	ENST00000315684.8	-	12	1964	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	653					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCTCTGCCCGCACCAGGCAG	0.547000													7	747					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65425588	65425588	+	Silent	SNP	C	C	T	rs139785185		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:65425588C>T	ENST00000330909.8	-	9	1235	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000497477.2_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgct	0.537000											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	575					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68423884	68423884	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:68423884G>A	ENST00000297770.4	-	4	539	c.324C>T	c.(322-324)ctC>ctT	p.L108L	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Silent_p.L108L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	108					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.L108L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GATCTTCTATGAGGACCCTGA	0.383000													325	461					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53260337	53260337	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:53260337G>T	ENST00000566029.1	+	5	2165	c.1956G>T	c.(1954-1956)aaG>aaT	p.K652N	CHD9_ENST00000398510.3_Missense_Mutation_p.K652N|CHD9_ENST00000564845.1_Missense_Mutation_p.K652N|CHD9_ENST00000447540.1_Missense_Mutation_p.K652N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	652	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TAGAAGGGAAGCAATCTGAAG	0.299000													4	217					1	1	1	1	0
L3MBTL2	83746	broad.mit.edu	37	22	41621925	41621925	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:41621925T>C	ENST00000216237.5	+	12	1642	c.1484T>C	c.(1483-1485)aTt>aCt	p.I495T		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	495					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAATGACATTGAGCTCACA	0.602000													100	157					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													5	520					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54855304	54855304	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:54855304T>G	ENST00000333896.5	+	12	2061	c.1676T>G	c.(1675-1677)cTg>cGg	p.L559R	SPTBN1_ENST00000356805.4_Missense_Mutation_p.L572R	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	572					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGCACACCCTGGTTGAAGCA	0.517000													90	153					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176584	104176584	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:104176584C>T	ENST00000020673.5	-	2	738	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.R71H	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	71	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGGGGGGCCACGCAGAGGTGT	0.672000													183	531					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683689	100683689	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:100683689C>T	ENST00000306151.4	+	3	9056	c.8992C>T	c.(8992-8994)Ccg>Tcg	p.P2998S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2998	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTGGCCAG	0.507000													10	1947					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	944604	944604	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:944604C>T	ENST00000217260.4	-	4	665	c.569G>A	c.(568-570)tGt>tAt	p.C190Y	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	190	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGGATGGGACATTTCCTTGA	0.672000													55	382					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228238532	228238532	+	Silent	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:228238532G>T	ENST00000284523.1	+	3	567	c.489G>T	c.(487-489)ggG>ggT	p.G163G	WNT3A_ENST00000366753.2_Silent_p.G163G	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	163					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				AGTTTGGTGGGATGGTGTCTC	0.667000													16	513					4.7546e-09	5.04415e-09	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153905124	153905124	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:153905124G>T	ENST00000361217.4	-	23	4171	c.3753C>A	c.(3751-3753)caC>caA	p.H1251Q	DENND4B_ENST00000474386.1_5'UTR	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1251										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTACCCCCATGTGCCCGTTGC	0.632000													10	493					2.27111e-07	2.37892e-07	1	1	0
SLC6A18	348932	broad.mit.edu	37	5	1244416	1244416	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1244416C>T	ENST00000324642.3	+	10	1547	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	475					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACAATTTTGCCGCTTCCCCG	0.582000													8	1324					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			59	16					0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316366	73316366	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:73316366C>T	ENST00000258098.6	-	2	749	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGTTGTTGCGCGTGAACTG	0.532000													11	1439					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87229495	87229495	+	Missense_Mutation	SNP	A	A	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:87229495A>C	ENST00000265724.3	-	3	423	c.6T>G	c.(4-6)gaT>gaG	p.D2E	ABCB1_ENST00000543898.1_Missense_Mutation_p.D2E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	2					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCCCTTCAAGATCCATTCCGA	0.458000													14	139					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													18	447					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1																						CTGGGATGTACGTCTGCGTTG	0.488000													7	314					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	118035	118035	+	Missense_Mutation	SNP	C	C	T	rs142161808		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:118035C>T	ENST00000382500.2	-	1	382	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	29					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTCCCAGGACATCGATTTTA	0.652000													31	666					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088593	32088593	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:32088593C>T	ENST00000438447.1	+	20	5427	c.5039C>T	c.(5038-5040)gCg>gTg	p.A1680V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1680V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1680					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAACTCATGCGGACATAAGC	0.537000													8	992					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18653098	18653098	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:18653098G>C	ENST00000308799.4	+	3	953	c.734G>C	c.(733-735)gGa>gCa	p.G245A	FBXW10_ENST00000395667.1_Missense_Mutation_p.G245A|FBXW10_ENST00000301938.4_Missense_Mutation_p.G245A|FBXW10_ENST00000395665.4_Missense_Mutation_p.G245A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	245								p.G245A(6)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCTGGAAAAGGAGACATAACC	0.468000													5	793					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143053772	143053772	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:143053772G>A	ENST00000409408.1	-	6	2578	c.870C>T	c.(868-870)tgC>tgT	p.C290C	FAM131B_ENST00000409578.1_Silent_p.C306C|FAM131B_ENST00000409346.1_Silent_p.C290C|FAM131B_ENST00000409222.3_Silent_p.C290C|FAM131B_ENST00000443739.2_Silent_p.C318C			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	290										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCAGGTCCCGGCATCCCGCAT	0.622000													7	1204					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68024785	68024785	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68024785G>A	ENST00000412757.2	-	8	1513	c.848C>T	c.(847-849)tCg>tTg	p.S283L	DPEP2_ENST00000393847.1_Missense_Mutation_p.S283L|DPEP2_ENST00000572888.1_Missense_Mutation_p.S283L			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	283					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CCGGGCAGCCGAGTGGGAGAA	0.572000													61	683					0	0	1	0	0
FAM5C	0	broad.mit.edu	37	1	190067701	190067701	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:190067701C>T	ENST00000367462.3	-	8	1979	c.1748G>A	c.(1747-1749)aGc>aAc	p.S583N	FAM5C_ENST00000534846.1_Missense_Mutation_p.S481N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		583						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CATAAACCAGCTCTCAGAGTG	0.468000													344	1051					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045516	62045516	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:62045516G>A	ENST00000578147.1	-	6	979	c.903C>T	c.(901-903)taC>taT	p.Y301Y	SCN4A_ENST00000435607.1_Silent_p.Y301Y			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	301					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGTCATTGCCGTACCACGTGT	0.552000													6	704					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077502	95077502	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:95077502C>T	ENST00000545558.1	-	7	1897	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	NOL8_ENST00000542053.1_Missense_Mutation_p.E401K|NOL8_ENST00000442668.2_Missense_Mutation_p.E469K|NOL8_ENST00000535387.1_Missense_Mutation_p.E469K|NOL8_ENST00000358855.4_Missense_Mutation_p.E401K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	469					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCACCTCCTTCAGAGTCAGCT	0.443000													111	158					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75884785	75884785	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:75884785G>A	ENST00000322507.8	-	13	2988	c.2679C>T	c.(2677-2679)gaC>gaT	p.D893D	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.D893D|COL12A1_ENST00000416123.2_Silent_p.D893D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	893	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAAAGAGGGCGTCTCCAGCCC	0.468000													62	782					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494011	55494011	+	Silent	SNP	C	C	T	rs139643111		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:55494011C>T	ENST00000543010.1	+	6	1088	c.945C>T	c.(943-945)ccC>ccT	p.P315P	NLRP2_ENST00000263437.6_Silent_p.P312P|NLRP2_ENST00000537859.1_Silent_p.P293P|NLRP2_ENST00000339757.7_Silent_p.P293P|NLRP2_ENST00000427260.2_Silent_p.P292P|NLRP2_ENST00000391721.4_Silent_p.P291P|NLRP2_ENST00000448584.2_Silent_p.P315P|NLRP2_ENST00000538819.1_Silent_p.P291P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	315	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGCCGGTGCCCGTCCTCCTGG	0.637000													23	379					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390071	158390071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:158390071G>A	ENST00000314902.2	-	1	585	c.586C>T	c.(586-588)Cag>Tag	p.Q196*		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ATGACAATCTGACTAAAGTGG	0.438000													191	605					0	0	1	0	0
ANKRD20A5P	0	broad.mit.edu	37	18	14184029	14184029	+	RNA	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:14184029T>C	ENST00000581935.1	+	0	718																				lung(3)	3						TCCATTATGCTGTGTATAGTG	0.438000													13	1442					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370131	86370131	+	Silent	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:86370131A>T	ENST00000400286.2	-	2	1111	c.513T>A	c.(511-513)gcT>gcA	p.A171A		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	171						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GACTCTCAATAGCATTGTCAT	0.368000													270	663					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3407102	3407102	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:3407102G>A	ENST00000356575.4	-	37	4842	c.4616C>T	c.(4615-4617)gCg>gTg	p.A1539V	MEGF6_ENST00000294599.4_Missense_Mutation_p.A1227V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1539						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTAGTGCCTCGCTGGTCCACC	0.672000													9	121					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47308515	47308515	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:47308515T>G	ENST00000335044.2	-	7	1076	c.719A>C	c.(718-720)aAa>aCa	p.K240T	KIF9_ENST00000444589.2_Missense_Mutation_p.K240T|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.K240T|KIF9_ENST00000352910.4_Missense_Mutation_p.K147T|KIF9_ENST00000265529.3_Missense_Mutation_p.K240T	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	240	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAAGTTAATTTTGGAAGTGAT	0.483000													73	430					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39454821	39454821	+	Missense_Mutation	SNP	G	G	A	rs142012270		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:39454821G>A	ENST00000280481.7	+	24	9623	c.9407G>A	c.(9406-9408)aGg>aAg	p.R3136K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3136					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGATGTGCAGGGGCAAGGAA	0.582000													15	441					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102516411	102516411	+	RNA	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:102516411C>G	ENST00000557932.1	+	0	1359																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TCCATCCCTCCTCTGCCGCCA	0.662000													15	118					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232476	1232476	+	Splice_Site	SNP	T	T	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1232476T>A	ENST00000324642.3	+	2	424		c.e2+2		SLC6A18_ENST00000296821.4_Splice_Site	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18						cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTGGAGTAGGTAGGCCACCGT	0.682000													7	170					0	0	1	0	0
ZNF398	0	broad.mit.edu	37	7	148851398	148851398	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:148851398G>A	ENST00000475153.1	+	2	653	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.R134Q			Q8TD17	ZN398_HUMAN	zinc finger protein 398	129					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGGATCCTGCGGCTCCCTCCA	0.517000													208	266					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93221081	93221081	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:93221081G>A	ENST00000446394.1	+	4	578	c.478G>A	c.(478-480)Gat>Aat	p.D160N	HECTD2_ENST00000371681.4_Missense_Mutation_p.D160N|HECTD2_ENST00000298068.5_Missense_Mutation_p.D160N			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	160					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACAACGTTTGATTCTTTCCC	0.269000													30	939					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61901211	61901211	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:61901211C>T	ENST00000427159.2	-	13	1901	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	419					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGAGAACATGCCAGTCTCCCC	0.567000													6	750					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75664478	75664478	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:75664478C>T	ENST00000394947.3	-	21	3978	c.3664G>A	c.(3664-3666)Gtg>Atg	p.V1222M	SIN3A_ENST00000394949.4_Missense_Mutation_p.V1222M|SIN3A_ENST00000360439.4_Missense_Mutation_p.V1222M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1222					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCACGGGGCACATGCTCCTTG	0.517000													50	318					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25637964	25637964	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:25637964C>T	ENST00000330688.4	+	8	1625	c.1204C>T	c.(1204-1206)Ctc>Ttc	p.L402F	RARB_ENST00000404969.1_Missense_Mutation_p.L409F|RARB_ENST00000437042.2_Missense_Mutation_p.L290F|RARB_ENST00000458646.1_Missense_Mutation_p.L290F|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	409	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATGCCACCTCTCATTCAAGA	0.433000													284	370					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													7	400					3.09899e-07	3.23585e-07	1	1	0
ARSB	411	broad.mit.edu	37	5	78264932	78264932	+	Silent	SNP	G	G	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:78264932G>C	ENST00000264914.4	-	2	932	c.396C>G	c.(394-396)ctC>ctG	p.L132L	ARSB_ENST00000565165.1_Silent_p.L132L|ARSB_ENST00000396151.3_Silent_p.L132L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	132					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CTTCTTTTAGGAGCTGGGGCA	0.478000													16	578					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522000													9	1266					0	0	1	0	0
UGT1A3	0	broad.mit.edu	37	2	234638369	234638369	+	Silent	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:234638369A>G	ENST00000482026.1	+	1	616	c.597A>G	c.(595-597)acA>acG	p.T199T	UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_019093.2	NP_061966.1												p.T199T(8)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATTACTAACAACCAATTCAG	0.423000													7	1012					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112162891	112162891	+	Nonsense_Mutation	SNP	C	C	T	rs137854580		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:112162891C>T	ENST00000457016.1	+	12	1875	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	APC_ENST00000508376.2_Nonsense_Mutation_p.R499*|APC_ENST00000257430.4_Nonsense_Mutation_p.R499*			P25054	APC_HUMAN	adenomatous polyposis coli	499	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R499*(5)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TACACTAAGACGATATGCTGG	0.373000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			163	33					0	0	1	0	0
APH1A	51107	broad.mit.edu	37	1	150240457	150240457	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150240457G>A	ENST00000360244.4	-	2	676	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	APH1A_ENST00000414276.2_Intron|APH1A_ENST00000369109.3_Missense_Mutation_p.R62W|APH1A_ENST00000461320.1_Intron	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	62					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATCTGACCGGTCGGTCACA	0.552000													6	733					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:30955025G>A	ENST00000376296.3	+	2	1314	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	358	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S358N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642000													11	1574					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852928	40852928	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:40852928G>A	ENST00000254691.5	+	3	1693	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	498					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGCTTCCCCGGCAAATCTCTG	0.438000													6	877					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42876661	42876661	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:42876661C>T	ENST00000025301.2	+	8	3954	c.3779C>T	c.(3778-3780)gCg>gTg	p.A1260V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1260					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGCAATTTTGCGGGTGATCTG	0.368000													6	864					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													7	288					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285638	16285638	+	Silent	SNP	G	G	A	rs144617200		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:16285638G>A	ENST00000302182.3	+	2	809	c.417G>A	c.(415-417)aaG>aaA	p.K139K	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.K139K|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.K139K	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	139	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACATCCAGAAGGAGTCGACCC	0.567000													5	561					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47315978	47315978	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:47315978G>A	ENST00000389798.3	+	19	2379	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T	LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	728										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTCTGTCCGCATAATGTCT	0.502000													11	1633					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71246002	71246002	+	Silent	SNP	A	A	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:71246002A>T	ENST00000418814.2	+	19	4619	c.4005A>T	c.(4003-4005)tcA>tcT	p.S1335S	FAM135A_ENST00000505769.1_Silent_p.S915S|FAM135A_ENST00000505868.1_Silent_p.S1335S|FAM135A_ENST00000370479.3_Silent_p.S1122S|FAM135A_ENST00000457062.2_Silent_p.S1122S|FAM135A_ENST00000361499.3_Silent_p.S1139S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1335										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAATTCGTTCAGTGCTTACAA	0.348000													157	224					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64428311	64428311	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:64428311C>T	ENST00000265459.6	-	10	2560	c.2099G>A	c.(2098-2100)cGc>cAc	p.R700H	NRXN2_ENST00000409571.1_Missense_Mutation_p.R693H|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Missense_Mutation_p.R669H|NRXN2_ENST00000377551.1_Missense_Mutation_p.R700H	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	700	EGF-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCCCCCATTGCGACAGGGGGC	0.647000													6	292					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715668	165715668	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:165715668A>G	ENST00000230301.8	-	2	163	c.143T>C	c.(142-144)cTt>cCt	p.L48P	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	48										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTCTTTCTGAAGCCGATTCAG	0.552000													258	314					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484272	150484272	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150484272C>T	ENST00000369047.4	+	7	1173	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	ECM1_ENST00000369049.4_Missense_Mutation_p.R377C|ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	350	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCGCTGCTGCCGCCAGGGGAA	0.622000													58	451					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6605421	6605421	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:6605421G>A	ENST00000264670.6	-	15	2013	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	NSUN2_ENST00000539938.1_Missense_Mutation_p.R332W|NSUN2_ENST00000506139.1_Missense_Mutation_p.R533W	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	568						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AGCACATTCCGCAACTCCTTA	0.478000													7	1338					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10799894	10799894	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:10799894G>A	ENST00000449870.1	+	20	2920	c.2603G>A	c.(2602-2604)gGc>gAc	p.G868D	ILF3_ENST00000590261.1_Missense_Mutation_p.G864D|ILF3_ENST00000318511.3_Missense_Mutation_p.G864D|ILF3_ENST00000588657.1_Missense_Mutation_p.G868D|ILF3_ENST00000586544.1_3'UTR	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	864	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	p.G864D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCGGGGTCCGGCCAGAACTAC	0.602000													7	1196					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57506679	57506679	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:57506679C>T	ENST00000278422.4	+	7	703	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	231	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAGGCAATGCGGCGGCCACA	0.547000													5	578					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24816938	24816938	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:24816938T>C	ENST00000376451.2	+	9	2281	c.2021T>C	c.(2020-2022)cTa>cCa	p.L674P	KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396445.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000396446.1_Missense_Mutation_p.L674P|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L956P|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L911P|KIAA1217_ENST00000307544.6_Missense_Mutation_p.L674P|KIAA1217_ENST00000376454.3_Missense_Mutation_p.L991P|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L956P			Q5T5P2	SKT_HUMAN	KIAA1217	991					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGAAGCTCCTAGAAGAAGCT	0.473000													29	824					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158695	58158695	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:58158695C>G	ENST00000228606.4	-	5	1014	c.805G>C	c.(805-807)Gag>Cag	p.E269Q		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	269					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TCTCGCCGCTCCACGTGCCTC	0.607000													223	43					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385585	33385585	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:33385585C>A	ENST00000541274.1	-	5	859	c.410G>T	c.(409-411)gGg>gTg	p.G137V	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CACCCCCCACCCCTCAACACA	0.602000													6	305					6.40141e-05	6.62146e-05	1	1	0
ASIC3	9311	broad.mit.edu	37	7	150746330	150746330	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:150746330G>A	ENST00000357922.4	+	1	952	c.358G>A	c.(358-360)Gca>Aca	p.A120T	ASIC3_ENST00000349064.5_Missense_Mutation_p.A120T|ASIC3_ENST00000297512.8_Missense_Mutation_p.A120T	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	120					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCTGGATCCCGCAGAGCACGC	0.701000													5	301					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68014188	68014188	+	Silent	SNP	G	G	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68014188G>A	ENST00000268793.4	-	1	544	c.171C>T	c.(169-171)ccC>ccT	p.P57P	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	32					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CGCGGGTTACGGGCTGCCgca	0.731000													7	51					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33936896	33936896	+	Silent	SNP	C	C	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:33936896C>T	ENST00000330120.3	+	1	406	c.51C>T	c.(49-51)ggC>ggT	p.G17G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	17						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AGGCAGCAGGCGGGGACAAGC	0.582000													62	865					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16953827	16953828	+	RNA	INS	-	-	C	rs57007114		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:16953827_16953828insC	ENST00000412962.1	-	0	477																											TCACTTTCCTGCCCGAACCTCC	0.609													8	144	---	---	---	---					
PTP4A2	8073	broad.mit.edu	37	1	32381581	32381582	+	In_Frame_Ins	INS	-	-	TAA			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:32381581_32381582insTAA	ENST00000344035.6	-	3	1096_1097	c.103_104insTTA	c.(103-105)gaa>TTAgaa	p.34_35insL	PTP4A2_ENST00000602725.1_In_Frame_Ins_p.34_35insL|PTP4A2_ENST00000356536.3_In_Frame_Ins_p.34_35insL|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000470404.1_In_Frame_Ins_p.34_35insL|PTP4A2_ENST00000457805.2_Intron	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	34						early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				TCCATACTTCTTAAGTTCCttt	0.361													59	33	---	---	---	---					
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs72406230		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685													7	257	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													11	225	---	---	---	---					
GBP1P1	0	broad.mit.edu	37	1	89887469	89887469	+	RNA	DEL	G	G	-	rs72379362		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:89887469delG	ENST00000513638.1	+	0	557					NR_003133.2																						ctgtatttctgaaaaaaaaaa	0.318													13	1	---	---	---	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:92447228_92447230delAGC	ENST00000370389.2	+	12	2623_2625	c.1699_1701delAGC	c.(1699-1701)del	p.S575del	BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419													7	278	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				35	96	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													22	412	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													15	548	---	---	---	---					
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cga>c	p.RG63del	HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	63					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626													19	704	---	---	---	---					
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gag>ga	p.EE173del	POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448													10	304	---	---	---	---					
SV2A	0	broad.mit.edu	37	1	149885223	149885225	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:149885223_149885225delTCA	ENST00000369146.3	-	2	658_660	c.168_170delTGA	c.(166-171)gac>ga	p.DD56del	SV2A_ENST00000369145.1_In_Frame_Del_p.DD56del	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	56	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGCAGGGAAGTCATCATCATCAT	0.542													9	1016	---	---	---	---					
ANXA9	8416	broad.mit.edu	37	1	150959077	150959077	+	Splice_Site	DEL	G	G	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:150959077delG	ENST00000368947.4	+	9	1028		c.e9-1			NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9						cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTCCTCCTAGGGGGGCCGTG	0.522													7	1109	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152286884	152286885	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152286884_152286885insT	ENST00000368799.1	-	3	512_513	c.477_478insA	c.(475-480)aaaaagfs	p.KK159fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	159					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTTTCTTTCTTTTTTTTCAG	0.342									Ichthyosis				9	801	---	---	---	---					
LCE2C	353140	broad.mit.edu	37	1	152648576	152648576	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152648576delC	ENST00000368783.1	+	2	140	c.85delC	c.(85-87)ccfs	p.P30fs	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	30	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			acctaagtgtccccccaaATG	0.592													7	1453	---	---	---	---					
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)del	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578													12	1340	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				17	763	---	---	---	---					
APOA1BP	128240	broad.mit.edu	37	1	156562376	156562376	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:156562376delA	ENST00000368235.3	+	4	473	c.430delA	c.(430-432)aafs	p.K144fs	APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	144	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTATTACCCCAAAAGGCCTAA	0.567													7	2062	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)del	p.V369del	PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGACATGAGCACCACCACCACC	0.571													11	913	---	---	---	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)del	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													10	768	---	---	---	---					
RASAL2	9462	broad.mit.edu	37	1	178412040	178412041	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:178412040_178412041insA	ENST00000448150.3	+	8	1922_1923	c.1104_1105insA	c.(1102-1107)aaaaaafs	p.KK368fs	RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.KK386fs|RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.KK238fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	238	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGGAAAAAAAGAAAAAAAAGGA	0.406													8	975	---	---	---	---					
PRG4	10216	broad.mit.edu	37	1	186276092	186276094	+	In_Frame_Del	DEL	CCA	CCA	-	rs112431404		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:186276092_186276094delCCA	ENST00000445192.2	+	7	1286_1288	c.1241_1243delCCA	c.(1240-1245)ccc>c	p.PT414del	PRG4_ENST00000367483.4_In_Frame_Del_p.PT373del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT371del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT321del|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	414	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTGCACCCACCACCACCAA	0.660													8	1428	---	---	---	---					
ASPM	259266	broad.mit.edu	37	1	197072497	197072497	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:197072497delT	ENST00000367409.4	-	18	6140	c.5884delA	c.(5884-5886)cafs	p.T1962fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1962	IQ 12.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTCTCAGTGTTTTTCCCTTC	0.393													9	2084	---	---	---	---					
TNNT2	7139	broad.mit.edu	37	1	201332505	201332507	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:201332505_201332507delCTC	ENST00000509001.1	-	11	773_775	c.487_489delGAG	c.(487-489)del	p.E163del	TNNT2_ENST00000236918.7_In_Frame_Del_p.E168del|TNNT2_ENST00000360372.4_In_Frame_Del_p.E158del|TNNT2_ENST00000367317.4_In_Frame_Del_p.E163del|TNNT2_ENST00000458432.2_In_Frame_Del_p.E175del|TNNT2_ENST00000421663.2_In_Frame_Del_p.E165del|TNNT2_ENST00000367315.2_In_Frame_Del_p.E163del|TNNT2_ENST00000367318.5_In_Frame_Del_p.E163del|TNNT2_ENST00000367320.2_In_Frame_Del_p.E133del|TNNT2_ENST00000367322.1_In_Frame_Del_p.E163del|TNNT2_ENST00000460780.1_5'UTR	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	173					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCCTCCTGTTCTCCTCCTCCTCT	0.522													7	1721	---	---	---	---					
DYRK3	8444	broad.mit.edu	37	1	206821440	206821441	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:206821440_206821441insA	ENST00000367106.1	+	4	1310_1311	c.837_838insA	c.(835-840)ataaaafs	p.IK279fs	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Frame_Shift_Ins_p.IK299fs|DYRK3_ENST00000367108.3_Frame_Shift_Ins_p.IK279fs			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	299	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGAGCTGATTAAAAAAAATAA	0.406													8	1457	---	---	---	---					
CR1L	1379	broad.mit.edu	37	1	207867814	207867814	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:207867814delA	ENST00000508064.2	+	5	640	c.580delA	c.(580-582)aafs	p.K195fs	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	195	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGCAGAGGGAAAAAGGTGTT	0.507													7	1843	---	---	---	---					
CENPF	1063	broad.mit.edu	37	1	214818826	214818826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:214818826delA	ENST00000366955.3	+	13	6081	c.5913delA	c.(5911-5913)tcfs	p.S1971fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2067					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATACTATGTCAAAAAAAACCA	0.408													9	716	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237969494	237969494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:237969494delT	ENST00000366574.2	+	99	14526	c.14209delT	c.(14209-14211)ttfs	p.F4739fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4739					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATAACAACTTTTTTTTTGC	0.403													11	427	---	---	---	---					
OR2T33	391195	broad.mit.edu	37	1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)ggfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428													17	909	---	---	---	---					
PUM2	23369	broad.mit.edu	37	2	20482977	20482979	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:20482977_20482979delGCT	ENST00000361078.2	-	11	1471_1473	c.1449_1451delAGC	c.(1447-1452)gct>gc	p.AA483del	PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del|PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	483	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424													7	498	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agt>ag	p.SS117del	ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													9	803	---	---	---	---					
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)gga>gg	p.GG47del		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	47	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532													15	573	---	---	---	---					
FOXN2	3344	broad.mit.edu	37	2	48573666	48573667	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:48573666_48573667insA	ENST00000340553.3	+	3	574_575	c.313_314insA	c.(313-315)aaafs	p.K105fs		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	105					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCAGAACCCAGAAAAAAAATCA	0.431													7	729	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)cat>ca	p.HH759del		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	759					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389													7	444	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292													30	309	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91899642	91899642	+	RNA	DEL	G	G	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:91899642delG	ENST00000436174.1	-	0	168																											AAAAAAAAAAGCAAAGTAGGA	0.269													8	174	---	---	---	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:96919781_96919783delTGC	ENST00000258439.2	-	4	736_738	c.480_482delGCA	c.(478-483)cat>ca	p.QH160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													10	582	---	---	---	---					
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393													9	1347	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)aaafs	p.K700fs		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													16	1286	---	---	---	---					
RANBP2	5903	broad.mit.edu	37	2	109380485	109380487	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:109380485_109380487delGAT	ENST00000283195.6	+	20	3616_3618	c.3490_3492delGAT	c.(3490-3492)del	p.D1168del		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCCCATGGGGATGATGATGATG	0.424													7	748	---	---	---	---					
SLC35F5	80255	broad.mit.edu	37	2	114480773	114480774	+	Splice_Site	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:114480773_114480774insA	ENST00000245680.2	-	13	1664		c.e13-2		SLC35F5_ENST00000470204.2_Splice_Site	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5						transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGCAGCCCCtaaaaaaaagaa	0.337													7	513	---	---	---	---					
R3HDM1	23518	broad.mit.edu	37	2	136409480	136409482	+	In_Frame_Del	DEL	CCT	CCT	-	rs139457585		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:136409480_136409482delCCT	ENST00000264160.4	+	17	2171_2173	c.1801_1803delCCT	c.(1801-1803)del	p.P605del	R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	605	Poly-Pro.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		accaccaccacctcctcctcctc	0.586													7	461	---	---	---	---					
CSRNP3	80034	broad.mit.edu	37	2	166532950	166532950	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:166532950delA	ENST00000314499.7	+	6	913	c.537delA	c.(535-537)acfs	p.T179fs	CSRNP3_ENST00000342316.4_Frame_Shift_Del_p.T179fs|CSRNP3_ENST00000409420.1_Frame_Shift_Del_p.T211fs	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	179					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTTTGCCAACAAAAAAACGAA	0.478													9	1360	---	---	---	---					
COL5A2	1290	broad.mit.edu	37	2	189921735	189921735	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:189921735delT	ENST00000374866.3	-	35	2629	c.2355delA	c.(2353-2355)aafs	p.K785fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	785					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTTCAGCACCTTTTTCTCCTA	0.403													9	909	---	---	---	---					
COL4A4	1286	broad.mit.edu	37	2	227896886	227896886	+	Frame_Shift_Del	DEL	C	C	-	rs2229812	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr2:227896886delC	ENST00000396625.3	-	39	3891	c.3684delG	c.(3682-3684)aafs	p.K1229fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1229	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGACCTTTCTTTCCACGAG	0.522													7	672	---	---	---	---					
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)ttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463													7	816	---	---	---	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:33602361delT	ENST00000399362.4	-	28	3243	c.2890delA	c.(2890-2892)tgfs	p.M964fs	CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													7	724	---	---	---	---					
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:43647213delT	ENST00000292246.3	-	2	302	c.132delA	c.(130-132)aafs	p.K44fs	ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	44					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408													8	334	---	---	---	---					
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:66436625_66436627delGCT	ENST00000383703.3	-	14	2242_2244	c.1639_1641delAGC	c.(1639-1641)del	p.S548del	LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547													7	1630	---	---	---	---					
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:113505224delT	ENST00000273398.3	+	6	818	c.710delT	c.(709-711)ctfs	p.L237fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATGCCCTTTTTCCGTAA	0.423													7	1042	---	---	---	---					
WWTR1	25937	broad.mit.edu	37	3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)del	p.Q233del	WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma								9	421	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582													7	1036	---	---	---	---					
C3orf55	152078	broad.mit.edu	37	3	157289824	157289825	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:157289824_157289825insA	ENST00000449199.2	+	4	435_436	c.294_295insA	c.(292-297)aaaaaafs	p.KK98fs	C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000459838.1_Intron|C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000312275.5_Frame_Shift_Ins_p.KK98fs	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN	chromosome 3 open reading frame 55	98										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			AGAATCAGAAGAAAAAAATGTA	0.302													11	16	---	---	---	---					
SMC4	10051	broad.mit.edu	37	3	160143939	160143940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr3:160143939_160143940insA	ENST00000357388.3	+	17	3007_3008	c.2556_2557insA	c.(2554-2559)gaaaaafs	p.EK852fs	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	852					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322													12	1195	---	---	---	---					
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:15995680delT	ENST00000505450.1	-	15	2282	c.1670delA	c.(1669-1671)atfs	p.N557fs	PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428													7	287	---	---	---	---					
LIAS	11019	broad.mit.edu	37	4	39462464	39462464	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:39462464delA	ENST00000261434.3	+	2	218	c.100delA	c.(100-102)aafs	p.K36fs	LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	36					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CTTGCCAGATAAAAAAAAGGA	0.393													7	745	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)del	p.Q760del	CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													7	265	---	---	---	---					
AFF1	4299	broad.mit.edu	37	4	87968372	87968372	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr4:87968372delC	ENST00000307808.6	+	3	1084	c.664delC	c.(664-666)ccfs	p.P222fs	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Frame_Shift_Del_p.P229fs	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	222						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCAAACTCTTCCCCGGACGCA	0.512													454	416	---	---	---	---					
BRD9	65980	broad.mit.edu	37	5	889776	889777	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:889776_889777insA	ENST00000323510.4	-	1	37_38	c.38_39insT	c.(37-39)tctfs	p.S13fs	BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	0							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACAATTTAAGGAAAAAAAAATT	0.446													7	647	---	---	---	---					
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)ggg>g	p.EG228del	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													7	472	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacfs	p.KH528fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	528					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													12	502	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)tcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			9	1945	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32089279	32089279	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:32089279delG	ENST00000438447.1	+	20	6113	c.5725delG	c.(5725-5727)ggfs	p.G1910fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.G1910fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1910					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGTGAAGGCTGGGGGGACGGA	0.577													8	1149	---	---	---	---					
SPEF2	79925	broad.mit.edu	37	5	35776458	35776458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:35776458delA	ENST00000440995.2	+	29	4163	c.4163delA	c.(4162-4164)gafs	p.E1388fs	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Del_p.E1393fs			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1393					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAACTCATGGAAAAATGGCTT	0.348													7	1295	---	---	---	---					
MROH2B	133558	broad.mit.edu	37	5	41004527	41004528	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:41004527_41004528insT	ENST00000399564.4	-	37	4564_4565	c.4114_4115insA	c.(4114-4116)cctfs	p.P1372fs	MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.P927fs	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.I1372T(1)									CAGCTCCAGGATTTTTTTTAGA	0.436													7	1080	---	---	---	---					
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr5:139905676delA	ENST00000297183.6	+	26	4712	c.4588delA	c.(4588-4590)aafs	p.K1531fs	ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423													8	521	---	---	---	---					
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)del	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433													10	445	---	---	---	---					
RBM24	221662	broad.mit.edu	37	6	17292126	17292128	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:17292126_17292128delGCT	ENST00000379052.5	+	4	723_725	c.487_489delGCT	c.(487-489)del	p.A172del	RBM24_ENST00000318204.5_In_Frame_Del_p.A127del|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_In_Frame_Del_p.A114del	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	172	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			ATACTCAGCAgctgctgctgctg	0.606													10	494	---	---	---	---					
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaa>ga	p.EE46del	DEK_ENST00000244776.7_In_Frame_Del_p.EE46del	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML								10	397	---	---	---	---					
GABBR1	0	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)del	p.L783del	GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													7	519	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:31975223_31975224insT	ENST00000342991.6	+	0	1346_1347					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													8	936	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:80751896_80751897insA	ENST00000509894.1	+	22	3377_3378	c.2548_2549insA	c.(2548-2550)aaafs	p.K850fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs			P33981	TTK_HUMAN	TTK protein kinase	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302													14	410	---	---	---	---					
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													8	465	---	---	---	---					
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:89975427_89975429delAAG	ENST00000402938.3	-	7	925_927	c.792_794delCTT	c.(790-795)ttg>tt	p.FL264del	GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	289					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGTTTGGAGCAAGAAGAAGAAGA	0.517													9	422	---	---	---	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													16	472	---	---	---	---					
SHPRH	257218	broad.mit.edu	37	6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:146264834_146264836delATC	ENST00000367503.3	-	9	2079_2081	c.1681_1683delGAT	c.(1681-1683)del	p.D561del	SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAGTAAGGATCATCATCATCA	0.360													9	543	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755630	146755632	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:146755630_146755632delGAC	ENST00000361719.2	+	9	3753_3755	c.3283_3285delGAC	c.(3283-3285)del	p.D1099del	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1099	Asp/Glu-rich (acidic).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCGCCCGCGGACGACGACGACG	0.650													9	781	---	---	---	---					
PLEKHG1	57480	broad.mit.edu	37	6	151161016	151161017	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:151161016_151161017delAG	ENST00000367328.1	+	17	3454_3455	c.3142_3143delAG	c.(3142-3144)afs	p.R1048fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.R1048fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1048					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GATTGTATTCAGAGAGTCTCCC	0.475													209	345	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)cfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													8	910	---	---	---	---					
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:158508009delC	ENST00000355585.4	+	23	3406	c.3331delC	c.(3331-3333)ccfs	p.P1114fs	SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1114	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCGCAGAGACCCCCCCCTCC	0.637													7	396	---	---	---	---					
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)del	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.650													7	157	---	---	---	---					
MLLT4	4301	broad.mit.edu	37	6	168317900	168317900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr6:168317900delT	ENST00000366806.2	+	19	2818	c.2676delT	c.(2674-2676)ccfs	p.P892fs	MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	892	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTGATGAGCCTTTTATCCCAA	0.398			T	MLL	AL								9	882	---	---	---	---					
STK31	56164	broad.mit.edu	37	7	23775341	23775341	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:23775341delA	ENST00000354639.3	+	7	1063	c.599delA	c.(598-600)gafs	p.E200fs	STK31_ENST00000428484.1_Frame_Shift_Del_p.E200fs|STK31_ENST00000355870.3_Frame_Shift_Del_p.E223fs|STK31_ENST00000433467.2_Frame_Shift_Del_p.E223fs|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	223							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.E223V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCTGTGAGGAAAAAAAATTG	0.473													8	548	---	---	---	---					
C7orf25	79020	broad.mit.edu	37	7	42949523	42949524	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:42949523_42949524delCT	ENST00000350427.4	-	2	1251_1252	c.976_977delAG	c.(976-978)gfs	p.R326fs	C7orf25_ENST00000447342.1_Frame_Shift_Del_p.R326fs|C7orf25_ENST00000438029.1_Frame_Shift_Del_p.R326fs|C7orf25_ENST00000431882.2_Frame_Shift_Del_p.R384fs|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	326								p.R326fs*6(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CACAGTGGCCCTCTCTCTCTCC	0.455													8	625	---	---	---	---					
PURB	5814	broad.mit.edu	37	7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)gcfs	p.C273fs		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	273					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCATACCGGCAAAAGGCGCCT	0.582													9	1046	---	---	---	---					
MEPCE	56257	broad.mit.edu	37	7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-	rs71555278		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgc>cg	p.RH394del	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	394							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGAGGCCGCCACCACCACCAC	0.581													13	474	---	---	---	---					
TRBV29-1	0	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													18	38	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3																						GTGATTAGACCAACCCTTCCCAT	0.537													27	215	---	---	---	---					
EPHB6	0	broad.mit.edu	37	7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)ggfs	p.G252fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682													7	920	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-	rs137989738		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)del	p.S745del	DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	745	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621													8	423	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)del	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													9	879	---	---	---	---					
RUNX1T1	862	broad.mit.edu	37	8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aafs	p.K404fs	RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	404					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCGCCACCTTTTTTTAAGT	0.517													8	855	---	---	---	---					
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)atfs	p.N973fs		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport	cytoplasm|nucleus	binding	p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358													10	493	---	---	---	---					
HRCT1	646962	broad.mit.edu	37	9	35906584	35906586	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:35906584_35906586delCCA	ENST00000354323.2	+	1	396_398	c.300_302delCCA	c.(298-303)ctc>ct	p.LH100del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	100	His-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						ctcaccacctccaccaccaccac	0.660													7	149	---	---	---	---					
COL27A1	85301	broad.mit.edu	37	9	116918267	116918269	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:116918267_116918269delGCG	ENST00000356083.3	+	1	428_430	c.37_39delGCG	c.(37-39)del	p.A18del		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	18					cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ccgaggcacagcggcggcggcgg	0.768													7	183	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													9	304	---	---	---	---					
RABEPK	10244	broad.mit.edu	37	9	127996170	127996171	+	In_Frame_Ins	INS	-	-	AGA			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:127996170_127996171insAGA	ENST00000373538.3	+	8	1340_1341	c.1030_1031insAGA	c.(1030-1032)gac>AGAgac	p.343_344insR	RABEPK_ENST00000394125.4_In_Frame_Ins_p.343_344insR|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_In_Frame_Ins_p.292_293insR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	343					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGAGGAAAGCCAGACTGCTACA	0.436													70	930	---	---	---	---					
TSC1	0	broad.mit.edu	37	9	135771988	135771990	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:135771988_135771990delGCT	ENST00000298552.3	-	23	3348_3350	c.3127_3129delAGC	c.(3127-3129)del	p.S1043del	TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1043	Poly-Ser.				activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.S1043N(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGAAAGCTCgctgctgctgctg	0.640			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				7	314	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137693829	137693829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:137693829delC	ENST00000371817.3	+	38	3396	c.2982delC	c.(2980-2982)ggfs	p.G994fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	994	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G997fs*17(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCTCCAGGCCCCCCCGGCG	0.657													8	588	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:139390945_139390947delGTG	ENST00000277541.6	-	34	7319_7321	c.7244_7246delCAC	c.(7243-7248)cag>c	p.PQ2415del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2415	Poly-Pro.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Q2417*(2)|p.P2416fs*11(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.650			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	307	---	---	---	---					
ZMYND19	116225	broad.mit.edu	37	9	140481541	140481542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr9:140481541_140481542insC	ENST00000298585.2	-	4	462_463	c.236_237insG	c.(235-237)ggtfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						Golgi apparatus|plasma membrane	zinc ion binding	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCGGGGCCACGCCCCCCCGGTG	0.634													7	609	---	---	---	---					
MYO3A	53904	broad.mit.edu	37	10	26462759	26462760	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:26462759_26462760insA	ENST00000265944.5	+	30	3732_3733	c.3566_3567insA	c.(3565-3567)caafs	p.Q1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TATCAGACTCCAAAAAAAATGA	0.401													8	513	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agt>ag	p.SS858del		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													26	821	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													13	92	---	---	---	---					
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:46969401_46969403delCAG	ENST00000374325.3	-	2	210_212	c.58_60delCTG	c.(58-60)del	p.L21del	SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													7	303	---	---	---	---					
A1CF	29974	broad.mit.edu	37	10	52569667	52569669	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:52569667_52569669delAGC	ENST00000395489.2	-	14	1993_1995	c.1597_1599delGCT	c.(1597-1599)del	p.A533del	A1CF_ENST00000395495.1_In_Frame_Del_p.A485del|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_In_Frame_Del_p.A540del|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	540					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGAAagcagtagcagcagcagca	0.512													7	636	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:61828745_61828747delGTG	ENST00000280772.1	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)act>ac	p.TT3964del	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498													11	1095	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gfs	p.E321fs	CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391													15	344	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gafs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													8	1775	---	---	---	---					
KIF20B	9585	broad.mit.edu	37	10	91498335	91498337	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:91498335_91498337delAAG	ENST00000416354.1	+	20	3899_3901	c.3827_3829delAAG	c.(3826-3831)aaa>a	p.KE1276del	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1246					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTTCAATTAAAAGAAGAAGAAGA	0.276													8	473	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													9	1005	---	---	---	---					
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)del	p.T19del		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581													7	1193	---	---	---	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:103919000_103919002delAGC	ENST00000405356.1	+	6	893_895	c.658_660delAGC	c.(658-660)del	p.S227del	NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													11	1495	---	---	---	---					
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)del	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458													18	981	---	---	---	---					
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:105727547_105727549delAGA	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gag>g	p.EK15del	SLK_ENST00000335753.4_In_Frame_Del_p.EK15del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	15					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448													11	918	---	---	---	---					
AFAP1L2	84632	broad.mit.edu	37	10	116062107	116062107	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:116062107delT	ENST00000369271.3	-	12	1721	c.1421delA	c.(1420-1422)acfs	p.N474fs	AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs|AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	474					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAAGAGAGAGTTTTTGGCCGC	0.547													9	1635	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													13	1362	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129913974	129913974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr10:129913974delT	ENST00000368654.3	-	7	1073	c.698delA	c.(697-699)atfs	p.N233fs	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	233					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGAGATTCATTTTTTTTGCT	0.343													8	436	---	---	---	---					
RP13-726E6.2	0	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													13	24	---	---	---	---					
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)del	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517													7	617	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316344	12316345	+	In_Frame_Ins	INS	-	-	CTC	rs3841216		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:12316344_12316345insCTC	ENST00000256186.2	+	3	1657_1658	c.1366_1367insCTC	c.(1366-1368)tcc>CTCtcc	p.455_456insL		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	455					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GCGCCAGGCAGctcctcctcct	0.604													8	137	---	---	---	---					
EHF	26298	broad.mit.edu	37	11	34668171	34668172	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:34668171_34668172insG	ENST00000257831.3	+	3	404_405	c.283_284insG	c.(283-285)ggcfs	p.G95fs	EHF_ENST00000450654.2_Frame_Shift_Ins_p.G95fs|EHF_ENST00000531794.1_Frame_Shift_Ins_p.G117fs|EHF_ENST00000531728.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000533754.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000527935.1_Frame_Shift_Ins_p.G95fs|EHF_ENST00000530286.1_Frame_Shift_Ins_p.G95fs	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	95	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGAGTTCACCCGGGCGGCAGGG	0.574													501	446	---	---	---	---					
TIGD3	220359	broad.mit.edu	37	11	65123359	65123368	+	Frame_Shift_Del	DEL	CCAAGATGTC	CCAAGATGTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:65123359_65123368delCCAAGATGTC	ENST00000309880.5	+	2	287_296	c.80_89delCCAAGATGTC	c.(79-90)tcfs	p.SKMS27fs		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	27	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTGGATGAGTCCAAGATGTCCCAGTCGGAG	0.619													20	413	---	---	---	---					
KRTAP5-7	440050	broad.mit.edu	37	11	71238416	71238436	+	In_Frame_Del	DEL	TGTGGCTCTGGCTGTGGGGGA	TGTGGCTCTGGCTGTGGGGGA	-	rs71931178		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA	ENST00000398536.4	+	1	104_124	c.70_90delTGTGGCTCTGGCTGTGGGGGA	c.(70-90)del	p.CGSGCGG24del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	24						keratin filament		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGTGGGGGCTGTGGCTCTGGCTGTGGGGGATGTGGCTCCA	0.665													7	1256	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527956.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													11	531	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agt>ag	p.SD780del	DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								12	305	---	---	---	---					
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:115080312_115080314delTGG	ENST00000537058.1	-	8	1078_1080	c.1058_1060delCCA	c.(1057-1062)atc>a	p.TI353del	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	353				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429													11	303	---	---	---	---					
BCL9L	283149	broad.mit.edu	37	11	118773004	118773004	+	Frame_Shift_Del	DEL	G	G	-	rs147951163	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr11:118773004delG	ENST00000334801.3	-	6	2412	c.1448delC	c.(1447-1449)cgfs	p.P483fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642													7	851	---	---	---	---					
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:29450110delA	ENST00000182377.4	+	4	790	c.522delA	c.(520-522)ccfs	p.P174fs	FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388													9	477	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:57860075delG	ENST00000228682.2	+	8	906	c.815delG	c.(814-816)tgfs	p.W272fs	GLI1_ENST00000546141.1_Frame_Shift_Del_p.W231fs|GLI1_ENST00000543426.1_Frame_Shift_Del_p.W144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTGCCACTGGGGGGGCTGC	0.597													7	507	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101680156	101680157	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:101680156_101680157insT	ENST00000261637.4	+	5	558_559	c.384_385insT	c.(382-387)gattttfs	p.DF128fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	128					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACTTTCCAGAGTTTTTTTTGAC	0.396													7	699	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													12	1338	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23912864	23912864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:23912864delT	ENST00000382298.3	-	10	5739	c.5151delA	c.(5149-5151)aafs	p.K1717fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.K967fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.K1717fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1717					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGAGCAGGATTTTTTTTTAA	0.358													8	493	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25517701	25517702	+	RNA	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:25517701_25517702insT	ENST00000429698.1	-	0	374																											ACCATTTGCTATTTTTTTTTCT	0.426													7	587	---	---	---	---					
NBEA	26960	broad.mit.edu	37	13	35733662	35733663	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:35733662_35733663insA	ENST00000540320.1	+	22	3888_3889	c.3354_3355insA	c.(3352-3357)ataaaafs	p.IK1118fs	NBEA_ENST00000310336.4_Frame_Shift_Ins_p.IK1118fs|NBEA_ENST00000379939.2_Frame_Shift_Ins_p.IK1118fs|NBEA_ENST00000400445.3_Frame_Shift_Ins_p.IK1118fs			Q8NFP9	NBEA_HUMAN	neurobeachin	1118						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGGTATCATTAAAAAAAATGA	0.356													7	308	---	---	---	---					
KBTBD7	84078	broad.mit.edu	37	13	41767432	41767434	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:41767432_41767434delCTG	ENST00000379483.3	-	1	1268_1270	c.960_962delCAG	c.(958-963)agt>ag	p.SS322del		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	322							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		gctgctgctactgctgctgctgc	0.512													12	268	---	---	---	---					
KIAA1704	0	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:45580365_45580367delGAT	ENST00000361121.2	+	3	285_287	c.250_252delGAT	c.(250-252)del	p.D88del	KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame			Q8IXQ4	K1704_HUMAN		88	Poly-Asp.									breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.335													18	1688	---	---	---	---					
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)tgafs	p.*320fs	DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322													22	1059	---	---	---	---					
RP11-394A14.2	0	broad.mit.edu	37	13	64407210	64407211	+	RNA	INS	-	-	TACTGTCAG			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366													8	1057	---	---	---	---					
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)cag>ca	p.HQ108del	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729													8	33	---	---	---	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaaggafs	p.G728fs	RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													11	341	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88330019	88330021	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr13:88330019_88330021delGCA	ENST00000325089.6	+	2	2595_2597	c.2376_2378delGCA	c.(2374-2379)ctg>ct	p.LQ792del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.LQ551del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	792						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCACCACCTgcagcagcagcag	0.655													8	410	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312													7	111	---	---	---	---					
PRKD1	5587	broad.mit.edu	37	14	30047559	30047559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:30047559delA	ENST00000331968.5	-	17	2671	c.2442delT	c.(2440-2442)gafs	p.D814fs	PRKD1_ENST00000415220.2_Frame_Shift_Del_p.D822fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	814	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGTTGATAAGATCAATGGCTG	0.333													23	82	---	---	---	---					
FBXO33	254170	broad.mit.edu	37	14	39871612	39871612	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:39871612delT	ENST00000298097.7	-	2	1040	c.703delA	c.(703-705)ttfs	p.I235fs	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	235										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)		TACTGTTTAATTTTTTTGCCA	0.323													7	184	---	---	---	---					
C14orf105	55195	broad.mit.edu	37	14	57938236	57938237	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:57938236_57938237insT	ENST00000216445.3	-	6	863_864	c.727_728insA	c.(727-729)ggafs	p.G243fs	C14orf105_ENST00000422976.2_Frame_Shift_Ins_p.G283fs|C14orf105_ENST00000534126.1_Frame_Shift_Ins_p.G242fs	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	243										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCATGTTTCCATTTTGCCAATT	0.396													76	25	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)del	p.S1468del	SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													11	403	---	---	---	---					
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2055)tttfs	p.F685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361													7	264	---	---	---	---					
IL16	3603	broad.mit.edu	37	15	81592162	81592164	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:81592162_81592164delCCT	ENST00000394660.2	+	14	2855_2857	c.2495_2497delCCT	c.(2494-2499)gcc>g	p.AS832del	IL16_ENST00000394652.2_In_Frame_Del_p.AS131del|IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	832					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.S792delS(1)|p.S838delS(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACATCCGGGcctcctcctcctc	0.586													7	164	---	---	---	---					
CSPG4P5	0	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													15	44	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)caa>ca	p.QQ54del	POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	54	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.690								DNA polymerases (catalytic subunits)					7	57	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr15:102312241delA	ENST00000561463.1	+	0	13609																											AGTGGCCGGGAAATTTGCTGT	0.592													8	155	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304																											GCAGggtgacggtggtggtggtg	0.483													8	204	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28847356	28847356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:28847356delC	ENST00000336783.4	+	22	3165	c.2998delC	c.(2998-3000)ccfs	p.P1001fs	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.P1007fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.P1001fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1001						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCATGGGGGGCCCCCCCAAGG	0.687													7	634	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077696	32077696	+	RNA	DEL	G	G	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:32077696delG	ENST00000566806.1	-	0	499																											GTGAGGGGAAGTCAGTGAGAG	0.582													43	893	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													8	423	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													7	267	---	---	---	---					
CDH3	1001	broad.mit.edu	37	16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													7	1375	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													14	19	---	---	---	---					
ITGAE	3682	broad.mit.edu	37	17	3664312	3664314	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:3664312_3664314delTCC	ENST00000263087.4	-	6	689_691	c.591_593delGGA	c.(589-594)gaa>ga	p.EE197del		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	197	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTCACCAGCTtcctcctcctcct	0.586													7	422	---	---	---	---					
CNTROB	116840	broad.mit.edu	37	17	7843518	7843519	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:7843518_7843519delGA	ENST00000380262.3	+	9	2194_2195	c.1269_1270delGA	c.(1267-1272)cggafs	p.RR423fs	CNTROB_ENST00000380255.3_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000563694.1_Frame_Shift_Del_p.RR423fs|CNTROB_ENST00000565740.1_Frame_Shift_Del_p.RR423fs	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	423	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ATACAGCTCGGAGAGAGAGAGA	0.579													9	799	---	---	---	---					
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:21094331_21094333delGAA	ENST00000395511.3	+	7	1163_1165	c.843_845delGAA	c.(841-846)ggg>gg	p.GK281del	DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_In_Frame_Del_p.GK266del	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	281						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507													7	1087	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27620932	27620934	+	In_Frame_Del	DEL	TGG	TGG	-	rs1054145	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:27620932_27620934delTGG	ENST00000225388.4	-	1	202_204	c.144_146delCCA	c.(142-147)cat>ca	p.HH50del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.HH50del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	50	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			Ctggtgatgatggtggtggtggt	0.591													7	1063	---	---	---	---					
PLCD3	113026	broad.mit.edu	37	17	43192760	43192762	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:43192760_43192762delTCC	ENST00000322765.5	-	9	1622_1624	c.1509_1511delGGA	c.(1507-1512)gat>ga	p.ED503del	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	503					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E503D(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	ctcctcgtcatcctcctcctcct	0.670													8	85	---	---	---	---					
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)ggfs	p.R549fs	SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323													8	301	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													13	91	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:66141017delC	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAA	0.323													20	268	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141017	66141018	+	RNA	INS	-	-	A			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:66141017_66141018insA	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAAA	0.327													7	305	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141032	66141032	+	RNA	DEL	C	C	-	rs76883902	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:66141032delC	ENST00000590019.1	-	0	70																											AAAAAAAAAACATAAGCCAAA	0.338													17	249	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)del	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709													7	353	---	---	---	---					
ROCK1P1	0	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs140158594	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:112519_112520insA	ENST00000576266.1	+	0	153_154																											CCAGCTCCCCCGGGGCCTCCGT	0.530													12	88	---	---	---	---					
SOGA2	23255	broad.mit.edu	37	18	8793004	8793004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:8793004delC	ENST00000359865.3	+	8	2038	c.1896delC	c.(1894-1896)ggfs	p.G632fs	SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	980																	AGCTCAGGGGCCCCCCCGTTT	0.552													10	1747	---	---	---	---					
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aagactfs	p.T895fs	OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCTCAAGTCGTTTTTTTTCTT	0.460													16	1534	---	---	---	---					
HDGFRP2	0	broad.mit.edu	37	19	4491824	4491824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:4491824delA	ENST00000301284.4	+	6	734	c.670delA	c.(670-672)aafs	p.K227fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Del_p.K227fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		227	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										GGGGGGACGGAAAAAAAAGGT	0.632													7	529	---	---	---	---					
UHRF1	29128	broad.mit.edu	37	19	4929125	4929125	+	RNA	DEL	C	C	-	rs66904189		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:4929125delC	ENST00000592666.1	+	0	729							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ATGCAGATTGCCCCCCCCCCA	0.607													11	139	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:16640581_16640583delTGC	ENST00000546361.2	-	8	1156_1158	c.1005_1007delGCA	c.(1003-1008)caa>ca	p.QQ339del	CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	339	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													11	194	---	---	---	---					
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	RNA	DEL	TG	TG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401													11	149	---	---	---	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:35940788_35940790delCTG	ENST00000599180.1	+	2	252_254	c.172_174delCTG	c.(172-174)del	p.L62del	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													7	318	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:45381749_45381751delGAG	ENST00000252485.4	+	6	1663_1665	c.1312_1314delGAG	c.(1312-1314)del	p.E445del	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	504					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591													7	154	---	---	---	---					
SIGLEC16	400709	broad.mit.edu	37	19	50474857	50474861	+	RNA	DEL	GACGC	GACGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:50474857_50474861delGACGC	ENST00000602139.1	+	0	998									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CAGTCTCCAGGACGCTTCCCTTTGC	0.566													10	266	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													9	51	---	---	---	---					
LILRB3	11025	broad.mit.edu	37	19	54721186	54721186	+	Splice_Site	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:54721186delA	ENST00000391750.1	-	13	1886		c.e13+1		LILRA6_ENST00000440558.2_Splice_Site|LILRB3_ENST00000469273.1_Splice_Site|LILRA6_ENST00000391735.3_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRB3_ENST00000346401.6_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site|LILRB3_ENST00000245620.9_Splice_Site			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAAGGACTCACCTCAGTGTC	0.607													10	311	---	---	---	---					
NLRP2	55655	broad.mit.edu	37	19	55494630	55494632	+	In_Frame_Del	DEL	GAA	GAA	-	rs3745905	byFrequency	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:55494630_55494632delGAA	ENST00000543010.1	+	6	1707_1709	c.1564_1566delGAA	c.(1564-1566)del	p.E523del	NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del|NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	523	NACHT.|Poly-Glu.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAGGAGGAGGAAGAGGATAGGG	0.567													7	535	---	---	---	---					
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr19:58084579delA	ENST00000196489.3	-	4	915	c.693delT	c.(691-693)ttfs	p.F231fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTAGGGTGAAAAAAAGTGT	0.453													7	1166	---	---	---	---					
CSRP2BP	57325	broad.mit.edu	37	20	18142695	18142695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:18142695delA	ENST00000278816.2	+	6	1564	c.914delA	c.(913-915)gafs	p.E305fs	CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.E177fs|CSRP2BP_ENST00000435364.2_Frame_Shift_Del_p.E305fs|CSRP2BP_ENST00000377681.2_Frame_Shift_Del_p.E304fs			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	305					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTGATTCTGGAAAAAGGCGAA	0.537													9	1044	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371													14	468	---	---	---	---					
FRG1B	0	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gca>gc	p.AG104del	FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del|FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355													7	527	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													11	1908	---	---	---	---					
APCDD1L	164284	broad.mit.edu	37	20	57036519	57036520	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:57036519_57036520insG	ENST00000371149.3	-	4	1062_1063	c.832_833insC	c.(832-834)gcafs	p.A278fs	APCDD1L_ENST00000439429.1_Frame_Shift_Ins_p.A289fs|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	278						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCCCAGGTGCAGGGGCAGGGCC	0.708													18	23	---	---	---	---					
DIDO1	11083	broad.mit.edu	37	20	61511303	61511303	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr20:61511303delT	ENST00000266070.4	-	16	6330	c.6005delA	c.(6004-6006)atfs	p.N2002fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.N2002fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2002	Pro-rich.				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)					GGTCTGCTCATTTTTTTCAGA	0.622													8	1320	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038813	11038814	+	RNA	INS	-	-	T	rs144107885	by1000genomes	TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr21:11038813_11038814insT	ENST00000470054.1	-	0	1389_1390									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGACTGAGATGTAAGTTGTTGG	0.446													11	1574	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													8	32	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)del	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				15	789	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120470	38120472	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:38120470_38120472delCCT	ENST00000406386.3	+	7	2162_2164	c.1907_1909delCCT	c.(1906-1911)gcc>g	p.AS636del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	636					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.586													8	721	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)ttc>t	p.SF246del	TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													16	468	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)caa>ca	p.QQ178del	TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571													8	460	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													10	458	---	---	---	---					
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)del	p.E171del	BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													10	590	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A7OP-01A-11D-A33T-08	TCGA-HV-A7OP-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70c535ce-aaf4-4d1c-be73-718f32dfaabd	a39cf420-7195-4d36-8f61-da7c28bddb72	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													10	994	---	---	---	---