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
PDGFRB	5159	broad.mit.edu	37	5	149513526	149513526	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:149513526C>T	ENST00000261799.4	-	5	1146	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	226	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACCCTGGCGGACCACAGT	0.542000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								106	354					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											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)		TTTCACAACAGTAAGTTAAGA	0.423000													41	682					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136301	21136301	+	Missense_Mutation	SNP	C	C	T	rs77080672	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:21136301C>T	ENST00000269228.5	-	8	1786	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	NPC1_ENST00000412552.2_Missense_Mutation_p.R161Q|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	411					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGAGGGGCCCGGATGATGAG	0.557000													87	266					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241991871	241991871	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:241991871G>A	ENST00000310397.8	+	15	2069	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	SNED1_ENST00000401884.1_Missense_Mutation_p.R690H|SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.R690H|SNED1_ENST00000405547.3_Missense_Mutation_p.R690H	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	690	EGF-like 10.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TACATGGGACGCCGGTGCCAG	0.652000													22	280					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78282819	78282819	+	Splice_Site	SNP	A	A	T	rs143170125		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:78282819A>T	ENST00000582970.1	+	14	2646	c.2501_splice	c.e14-1	p.I835_splice	RNF213_ENST00000456466.1_Splice_Site_p.I835_splice|RNF213_ENST00000508628.2_Splice_Site_p.I884_splice|RNF213_ENST00000319921.4_Splice_Site_p.I835_splice	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	835										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGGGGCAGGATTCCCGAGGA	0.478000													153	469					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													6	227					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596541	11596541	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:11596541C>T	ENST00000294484.6	+	21	4115	c.3977C>T	c.(3976-3978)aCg>aTg	p.T1326M	PTCHD2_ENST00000304391.6_Silent_p.H212H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.T1326M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1326					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCACTCAACACGGGCGTGTCC	0.607000													107	262					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432332	6432332	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr11:6432332C>T	ENST00000389906.2	-	2	345	c.246G>A	c.(244-246)acG>acA	p.T82T	APBB1_ENST00000311051.3_Silent_p.T82T|APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Silent_p.T82T	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	82					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CACGGTGGGCCGTGGCGGCCC	0.667000													490	1182					0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51378013	51378013	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:51378013G>T	ENST00000325321.3	+	2	308	c.83G>T	c.(82-84)gGc>gTc	p.G28V	KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.G28V|AC037199.1_ENST00000594218.1_Missense_Mutation_p.P10T|KLK2_ENST00000597509.1_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	28	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		ATTGTGGGAGGCTGGGAGTGT	0.622000			T	ETV4	prostate								85	256					1.55521e-42	1.66763e-42	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5410118	5410118	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:5410118C>A	ENST00000399537.4	-	11	4455	c.4107G>T	c.(4105-4107)gaG>gaT	p.E1369D	TNRC18_ENST00000430969.1_Missense_Mutation_p.E1369D			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1369							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCCAGCTTCTCCAAGGCCT	0.662000													13	38					7.93312e-07	8.02327e-07	1	1	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131265	151131265	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:151131265T>C	ENST00000368910.3	+	2	218	c.92T>C	c.(91-93)aTa>aCa	p.I31T		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	31					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CATCTCTTCATAGATGAGACA	0.567000													224	293					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946268	46946268	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr13:46946268C>T	ENST00000429979.1	-	3	947	c.343G>A	c.(343-345)Gct>Act	p.A115T	KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A48T|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A115T|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A115T	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	115	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGGGGAGAAGCGCTGCCAACG	0.582000													76	246					0	0	1	0	0
COX10-AS1	0	broad.mit.edu	37	17	13928494	13928494	+	RNA	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:13928494C>T	ENST00000602743.1	-	0	224																											CCATGCTGCCCCTAGTCCTGG	0.612000													4	41					0	0	1	0	0
PCDHB16	0	broad.mit.edu	37	5	140564033	140564033	+	Silent	SNP	C	C	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:140564033C>A	ENST00000361016.2	+	1	3054	c.1899C>A	c.(1897-1899)cgC>cgA	p.R633R		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.692000													28	341					3.07281e-33	3.21742e-33	1	1	0
GFAP	2670	broad.mit.edu	37	17	42992592	42992592	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:42992592C>T	ENST00000253408.5	-	1	328	c.263G>A	c.(262-264)cGc>cAc	p.R88H	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.R88H|GFAP_ENST00000435360.2_Missense_Mutation_p.R88H	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	88	Coil 1A.|Rod.		R -> C (in ALEXD; dbSNP:rs61622935).|R -> S (in ALEXD).			cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCCAGGAAGCGAACCTTCTC	0.607000													91	304					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53218900	53218900	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:53218900G>T	ENST00000394729.2	+	9	1126	c.798G>T	c.(796-798)atG>atT	p.M266I	PRKCD_ENST00000330452.3_Missense_Mutation_p.M266I	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	266					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		ACTGCGGCATGAATGTGCACC	0.597000													104	371					5.77035e-48	6.26294e-48	1	1	0
C9orf66	157983	broad.mit.edu	37	9	215392	215392	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:215392C>T	ENST00000382387.2	-	1	501	c.5G>A	c.(4-6)aGa>aAa	p.R2K	DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000432829.2_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	2										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	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)		CACGGAGTGTCTCATAAACGG	0.597000													86	242					0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67189164	67189164	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:67189164G>T	ENST00000345057.4	-	4	931	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TRADD_ENST00000486556.1_Missense_Mutation_p.L95M	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	155					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCATCCTCCAGCTCAGCCAGT	0.692000													24	32					1.10923e-09	1.13473e-09	1	1	0
AQP10	89872	broad.mit.edu	37	1	154296116	154296116	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:154296116C>T	ENST00000484864.1	+	5	577	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.R181W			Q96PS8	AQP10_HUMAN	aquaporin 10	181					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.R181W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGACAGACGGAACAAGGG	0.612000													547	819					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660535	90660535	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:90660535G>A	ENST00000257749.4	-	7	1997	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	BACH2_ENST00000343122.3_Silent_p.S430S|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.S430S|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	430						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGAAGATCACGCTCCTCCGGT	0.592000													80	286					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78086379	78086379	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:78086379C>T	ENST00000302262.3	+	13	1976	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	GAA_ENST00000390015.3_Missense_Mutation_p.A586V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	586					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CACCCCAGGGCGCTGGTGAAG	0.682000													58	156					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20357476	20357476	+	Missense_Mutation	SNP	C	C	T	rs141355380		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:20357476C>T	ENST00000396134.2	-	6	1376	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q	UMOD_ENST00000396138.4_Missense_Mutation_p.R434Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R385Q|UMOD_ENST00000570689.1_Missense_Mutation_p.R385Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R418Q|UMOD_ENST00000302509.4_Missense_Mutation_p.R385Q	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	385	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGGCCATCCCGGGCTGGGGT	0.587000													67	196					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433778	73433778	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:73433778G>A	ENST00000263666.4	-	10	2053	c.1939C>T	c.(1939-1941)Cgc>Tgc	p.R647C	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304C|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	647							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGAGCTCGCGGAAGCGCTCG	0.662000													219	516					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112649342	112649342	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr10:112649342A>G	ENST00000393104.2	+	8	1156	c.796A>G	c.(796-798)Acc>Gcc	p.T266A	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Missense_Mutation_p.T277A	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	277	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TTTATGTAATACCTATATTGA	0.313000													280	665					0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135618242	135618242	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:135618242G>A	ENST00000370634.3	+	2	233	c.63G>A	c.(61-63)acG>acA	p.T21T		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.T21T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CTATAAAGACGGAATGGAATT	0.493000													206	519					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077968	95077968	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:95077968C>T	ENST00000545558.1	-	7	1431	c.939G>A	c.(937-939)gcG>gcA	p.A313A	NOL8_ENST00000358855.4_Silent_p.A245A|NOL8_ENST00000542053.1_Silent_p.A245A|NOL8_ENST00000535387.1_Silent_p.A313A|NOL8_ENST00000442668.2_Silent_p.A313A			Q76FK4	NOL8_HUMAN	nucleolar protein 8	313					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						TTTCCTCTTTCGCAATCATCA	0.368000													47	101					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67555549	67555549	+	Silent	SNP	C	C	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:67555549C>G	ENST00000335894.4	+	3	330	c.264C>G	c.(262-264)tcC>tcG	p.S88S	IQCH_ENST00000512104.1_Silent_p.S88S|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	88										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCCAGGCTTCCAAATGGTAAG	0.313000													67	151					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													19	290					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32944179	32944179	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:32944179C>T	ENST00000395289.2	+	6	2364	c.763C>T	c.(763-765)Cac>Tac	p.H255Y	BRD2_ENST00000395287.1_Missense_Mutation_p.H255Y|BRD2_ENST00000449085.2_Missense_Mutation_p.H208Y|BRD2_ENST00000374825.4_Missense_Mutation_p.H255Y|BRD2_ENST00000374831.4_Missense_Mutation_p.H255Y|BRD2_ENST00000443797.2_Missense_Mutation_p.H135Y			P25440	BRD2_HUMAN	bromodomain containing 2	255					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CAAGTCCTTGCACTCTGCTGG	0.562000													151	430					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711000													6	126					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													11	322					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169509808	169509808	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:169509808C>A	ENST00000256935.8	+	52	5519	c.5439C>A	c.(5437-5439)agC>agA	p.S1813R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.S874R|DOCK2_ENST00000520908.1_Missense_Mutation_p.S1305R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1813					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGGCCAGCAAATCGGCTG	0.512000													24	222					2.32416e-17	2.40523e-17	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152614868	152614868	+	Missense_Mutation	SNP	C	C	T	rs80265744	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:152614868C>T	ENST00000367255.5	-	95	18468	c.17867G>A	c.(17866-17868)cGc>cAc	p.R5956H	SYNE1_ENST00000423061.1_Missense_Mutation_p.R5885H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5956H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5568H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R480H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5885H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5956					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGAGTGTGCGCTGCTTCTC	0.468000										HNSCC(10;0.0054)			155	405					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000513208.1_Missense_Mutation_p.R130H|DKK2_ENST00000510463.1_Missense_Mutation_p.R184H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R230H(3)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488000													191	571					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78636417	78636417	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:78636417C>T	ENST00000354212.4	-	2	660	c.407G>A	c.(406-408)cGc>cAc	p.R136H	MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	136	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGCACCGTGCGGAGGTAGAG	0.373000													178	415					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													10	343					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111697971	111697971	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:111697971G>A	ENST00000340433.2	+	1	245	c.15G>A	c.(13-15)acG>acA	p.T5T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	5							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAAGTGCACGAAATCATCAT	0.458000													197	603					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327380	57327380	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:57327380G>A	ENST00000326441.9	-	10	2793	c.2430C>T	c.(2428-2430)ttC>ttT	p.F810F	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.F684F|PEG3_ENST00000423103.2_Silent_p.F810F|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.F686F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	810					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F810F(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGATAGCATCGAAGCTCTGAA	0.468000													299	797					0	0	1	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000													6	137					0	0	1	0	0
PES1	23481	broad.mit.edu	37	22	30975143	30975143	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:30975143T>C	ENST00000402281.1	-	15	2076	c.1085A>G	c.(1084-1086)gAg>gGg	p.E362G	PES1_ENST00000335214.6_Missense_Mutation_p.E496G|PES1_ENST00000354694.6_Missense_Mutation_p.E501G|PES1_ENST00000402284.3_Missense_Mutation_p.E484G|PES1_ENST00000405677.1_Missense_Mutation_p.E362G			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	501	BRCT.|Sufficient for interaction with MAP1B (By similarity).				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CATCCTCTGCTCTTCCAGGGC	0.602000													46	103					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140919489	140919489	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:140919489G>A	ENST00000277549.5	+	20	3296	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1052M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371367.5_Missense_Mutation_p.V35M|CACNA1B_ENST00000545473.1_Missense_Mutation_p.V35M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1051M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1052M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1051M			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1051					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCAGAAGGTGGAGGAACA	0.562000													19	73					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													9	271					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:102292953T>C	ENST00000561463.1	+	0	999																											GGCACAGCGGTGCGACGAGAT	0.587000													5	67					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673880	120673880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:120673880C>T	ENST00000273666.6	+	3	554	c.283C>T	c.(283-285)Cga>Tga	p.R95*	STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R95*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R95*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	95					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGGTGCTATACGAATGTATCC	0.363000													76	167					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													17	134					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124382161	124382161	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:124382161A>T	ENST00000287394.5	-	7	938	c.831T>A	c.(829-831)gaT>gaA	p.D277E	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	277	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			catcatcttcatcatcatcat	0.378000													6	174					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													15	643					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599224	179599224	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:179599224G>C	ENST00000589042.1	-	52	15551	c.15327C>G	c.(15325-15327)ttC>ttG	p.F5109L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F3865L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.F4792L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4792	Ig-like 31.						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)			TCTTGTCTTTGAACCAGCTAA	0.383000													154	488					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270897	1270897	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:1270897G>A	ENST00000348261.5	+	35	7213	c.6965G>A	c.(6964-6966)cGg>cAg	p.R2322Q	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R2316Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R2316Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2322					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAGAAGAGGCGGGGGCTGTAC	0.652000													142	382					0	0	1	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60342234	60342234	+	RNA	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:60342234C>T	ENST00000581291.1	-	0	1919																				breast(2)|kidney(1)|lung(2)	5						GTCTGGTGTGCTCCATCTCTG	0.498000													9	245					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513275	4513275	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:4513275C>T	ENST00000301286.3	-	3	654	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	219	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTTTGGTGCCGGTCAGCACA	0.577000													274	781					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2129					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667000													10	347					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3740730	3740730	+	Silent	SNP	C	C	T	rs139746746	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:3740730C>T	ENST00000541714.2	+	14	2274	c.1812C>T	c.(1810-1812)taC>taT	p.Y604Y	TJP3_ENST00000262968.9_Silent_p.Y637Y|TJP3_ENST00000539908.2_Silent_p.Y568Y|TJP3_ENST00000382008.3_Silent_p.Y618Y|TJP3_ENST00000589378.1_Silent_p.Y613Y|TJP3_ENST00000587686.1_Silent_p.Y623Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	618	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCCGCTACCCGCCCTACG	0.667000													45	164					0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80646047	80646047	+	Silent	SNP	G	G	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:80646047G>A	ENST00000286548.4	-	1	327	c.105C>T	c.(103-105)gaC>gaT	p.D35D		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	35					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCCGGCGGGCGTCCCGCTTGT	0.716000			Mis		uveal melanoma								4	79					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746117	150746117	+	Missense_Mutation	SNP	G	G	A	rs150462572		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:150746117G>A	ENST00000357922.4	+	1	739	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	ASIC3_ENST00000349064.5_Missense_Mutation_p.V49M|ASIC3_ENST00000297512.8_Missense_Mutation_p.V49M	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	49					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										GGCAGCGGCCGTGGTCCTGTC	0.662000													88	305					0	0	1	0	0
CYP3A5	0	broad.mit.edu	37	7	99258126	99258126	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:99258126T>C	ENST00000343703.5	-	11	1378	c.992A>G	c.(991-993)aAt>aGt	p.N331S	CYP3A5_ENST00000222982.4_Missense_Mutation_p.N341S|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					CCTCACCTTATTGGGCAAAAC	0.458000													198	455					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241991878	241991878	+	Silent	SNP	C	C	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:241991878C>T	ENST00000310397.8	+	15	2076	c.2076C>T	c.(2074-2076)tgC>tgT	p.C692C	SNED1_ENST00000401884.1_Silent_p.C692C|SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Silent_p.C692C|SNED1_ENST00000405547.3_Silent_p.C692C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	692	EGF-like 10.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GACGCCGGTGCCAGGCAGGTG	0.637000													13	269					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													25	627					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48604736	48604736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:48604736G>T	ENST00000342988.3	+	12	2096	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E520*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E424*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	520	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.E520*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGCATCAAAGAAACACCTTG	0.488000													124	202					5.83743e-79	6.41397e-79	1	1	0
FYCO1	79443	broad.mit.edu	37	3	46008034	46008034	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:46008034T>C	ENST00000296137.2	-	8	2997	c.2792A>G	c.(2791-2793)cAg>cGg	p.Q931R	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q931R	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	931					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGGAGCTCCTGGACAGCACA	0.627000													51	436					0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctg>ct	p.LK116del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	116					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576													9	455	---	---	---	---					
MST1L	0	broad.mit.edu	37	1	17084730	17084730	+	RNA	DEL	G	G	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:17084730delG	ENST00000455405.2	-	0	286																		p.R494fs*37(1)									AAGCACTGCCGGGCAGTCAGT	0.582													9	94	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													13	65	---	---	---	---					
ZMPSTE24	10269	broad.mit.edu	37	1	40756542	40756543	+	Frame_Shift_Ins	INS	-	-	T	rs137854889		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:40756542_40756543insT	ENST00000372759.3	+	9	1241_1242	c.1076_1077insT	c.(1075-1077)tttfs	p.F359fs		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	359						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTTCCTGTGTTTTTTTTTAT	0.332													10	451	---	---	---	---					
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs72406230		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|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													9	473	---	---	---	---					
CYP4Z2P	0	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	A	-	rs10712628		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:47325282delA	ENST00000505841.1	-	0	1204					NR_002788.2																						ATTTCAATCCAAACATAGCTG	0.393													8	275	---	---	---	---					
DMRTB1	63948	broad.mit.edu	37	1	53930351	53930353	+	In_Frame_Del	DEL	GCC	GCC	-	rs75818218		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:53930351_53930353delGCC	ENST00000371445.3	+	3	847_849	c.792_794delGCC	c.(790-795)ctg>ct	p.LP264del	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	264	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCTACTACCTgccgccgccgccg	0.670													7	459	---	---	---	---					
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	37					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.700													11	184	---	---	---	---					
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)tafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT								15	722	---	---	---	---					
GBP5	115362	broad.mit.edu	37	1	89732166	89732166	+	Frame_Shift_Del	DEL	T	T	-	rs34148688		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:89732166delT	ENST00000343435.5	-	7	1267	c.731delA	c.(730-732)agfs	p.K244fs	GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Frame_Shift_Del_p.K244fs|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	244						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTGGGCAAGCTTTTTTTGGTG	0.388													7	1037	---	---	---	---					
FNDC7	163479	broad.mit.edu	37	1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccfs	p.P708fs	FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	709	Fibronectin type-III 8.					extracellular region		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363													8	462	---	---	---	---					
NGF	4803	broad.mit.edu	37	1	115828721	115828722	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:115828721_115828722delCA	ENST00000369512.2	-	3	863_864	c.695_696delTG	c.(694-696)gfs	p.V232fs	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	232					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCCTGCTGAGCACACACACACA	0.579													10	584	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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				18	84	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													12	313	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329																											CTACTTACATCTTTTTGTCTTT	0.441													24	154	---	---	---	---					
RP11-417J8.6	0	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:142713977delT	ENST00000369381.2	-	0	628																											ATCCATATACTAAAAAGGTTA	0.294													11	97	---	---	---	---					
ANKRD20A12P	0	broad.mit.edu	37	1	142720897	142720898	+	RNA	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:142720897_142720898insA	ENST00000595144.1	-	0	204_205																											GCTCTTCCTCTAAGCCACTGGT	0.277													15	134	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153318579	153318579	+	Splice_Site	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:153318579delT	ENST00000368739.3	-	3	496	c.139_splice	c.e3+1	p.K46_splice	PGLYRP4_ENST00000359650.5_Splice_Site_p.K46_splice|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	46					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGTTTACCTTTTTCAGTGA	0.468													7	1956	---	---	---	---					
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-	rs143592003		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)cgg>c	p.HR729del	PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.640													9	630	---	---	---	---					
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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													8	607	---	---	---	---					
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcg>gc	p.AE30del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	30								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488													7	725	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gtfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378													8	1315	---	---	---	---					
DYRK3	8444	broad.mit.edu	37	1	206821441	206821441	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:206821441delA	ENST00000367106.1	+	4	1311	c.838delA	c.(838-840)aafs	p.K281fs	DYRK3_ENST00000367109.2_Frame_Shift_Del_p.K301fs|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Frame_Shift_Del_p.K281fs			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	301	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)			TGAGCTGATTAAAAAAAATAA	0.403													9	1104	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													19	617	---	---	---	---					
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)tafs	p.I410fs	SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343													10	301	---	---	---	---					
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576													10	541	---	---	---	---					
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:38178783delT	ENST00000407257.1	+	2	572	c.425delT	c.(424-426)atfs	p.I142fs	RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron					regulator of microtubule dynamics 2																		AAGAGTGCCATTTTTTTTGAT	0.333													8	671	---	---	---	---					
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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													7	608	---	---	---	---					
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)del	p.D26del	AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409													8	1116	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73315337	73315339	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:73315337_73315339delTGG	ENST00000258098.6	-	3	1647_1649	c.1407_1409delCCA	c.(1405-1410)caa>ca	p.HQ469del	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	469					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						ACTTAGGCCTTGGTGGTGGTGGT	0.635													7	1013	---	---	---	---					
LOXL3	84695	broad.mit.edu	37	2	74763923	74763924	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:74763923_74763924insC	ENST00000264094.3	-	5	895_896	c.824_825insG	c.(823-825)gccfs	p.A275fs	LOXL3_ENST00000409549.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409249.1_Frame_Shift_Ins_p.A275fs|LOXL3_ENST00000409986.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	275	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCACTGCAGGGCCCCCCCCAGG	0.649													9	648	---	---	---	---					
ANKRD36BP2	0	broad.mit.edu	37	2	89082220	89082223	+	RNA	DEL	TGAT	TGAT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:89082220_89082223delTGAT	ENST00000393525.3	+	0	474																											TGTGTACATATGATTGATTATGTA	0.328													7	217	---	---	---	---					
IGKV1D-8	0	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236																											AATTTACTCAGCCAATGTGCTC	0.480													14	941	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292													7	404	---	---	---	---					
ANKRD20A8P	0	broad.mit.edu	37	2	95519511	95519512	+	RNA	INS	-	-	TACT			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:95519511_95519512insTACT	ENST00000432432.2	-	0	316					NR_040113.1																						TTCAAAACAAATAATTTTTTTG	0.307													7	156	---	---	---	---					
ANKRD36C	400986	broad.mit.edu	37	2	96521448	96521449	+	Frame_Shift_Ins	INS	-	-	A	rs113448291		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:96521448_96521449insA	ENST00000456556.1	-	63	4644_4645	c.4560_4561insT	c.(4558-4563)gcagagfs	p.E1521fs	ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E548fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E772fs					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AACTTACTCTCAGCTTTAGAAA	0.406													7	314	---	---	---	---					
SULT1C3	442038	broad.mit.edu	37	2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:108863685delA	ENST00000329106.2	+	1	35	c.35delA	c.(34-36)gafs	p.E12fs	SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353													7	683	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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													15	1604	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109087914	109087914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:109087914delT	ENST00000309863.6	+	6	2843	c.2129delT	c.(2128-2130)gtfs	p.V710fs		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	710					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						GATTTGGAGGTTTTTTTGTCT	0.299													7	1663	---	---	---	---					
FOXD4L1	200350	broad.mit.edu	37	2	114257058	114257059	+	In_Frame_Ins	INS	-	-	GGC			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:114257058_114257059insGGC	ENST00000306507.5	+	1	398_399	c.225_226insGGC	c.(223-228)gagcgg>gaGGCgcgg	p.75_76ER>EAR		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	75					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	p.G76C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AGCACATCGAGGGCGGCGGCCC	0.708													8	65	---	---	---	---					
CSRNP3	80034	broad.mit.edu	37	2	166535616	166535618	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:166535616_166535618delGAG	ENST00000314499.7	+	7	1487_1489	c.1111_1113delGAG	c.(1111-1113)del	p.E383del	CSRNP3_ENST00000342316.4_In_Frame_Del_p.E383del|CSRNP3_ENST00000409420.1_In_Frame_Del_p.E415del	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	383	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E371D(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGAGTCAGACgaggaggaggagg	0.542													7	525	---	---	---	---					
SCN9A	6335	broad.mit.edu	37	2	167055992	167055992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:167055992delT	ENST00000375387.4	-	27	5500	c.5160delA	c.(5158-5160)aafs	p.K1720fs	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1719						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGGATGAACTTTTTTTGGGT	0.423													8	1881	---	---	---	---					
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aafs	p.K72fs	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TGATGAGGCGAAAAAAAAGGA	0.388													16	1033	---	---	---	---					
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)acafs	p.T289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													10	475	---	---	---	---					
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:191161629delT	ENST00000392332.3	-	3	268	c.129delA	c.(127-129)aafs	p.K43fs	HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353													7	337	---	---	---	---					
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)ttcfs	p.F361fs	GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337													9	285	---	---	---	---					
SGOL2	151246	broad.mit.edu	37	2	201437003	201437004	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:201437003_201437004insT	ENST00000357799.4	+	7	2032_2033	c.1934_1935insT	c.(1933-1935)attfs	p.I645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAAGGTAATTTTTTTTTCA	0.337													8	876	---	---	---	---					
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)cafs	p.Q299fs	CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348													10	599	---	---	---	---					
TRPM8	79054	broad.mit.edu	37	2	234879009	234879010	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:234879009_234879010insC	ENST00000324695.4	+	17	2334_2335	c.2294_2295insC	c.(2293-2295)cccfs	p.P765fs	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	765						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCGGTGCCACACCCCCCCGAGC	0.574													13	2079	---	---	---	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atc>a	p.IL15del		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	15					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													10	467	---	---	---	---					
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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													8	719	---	---	---	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:33602361delT	ENST00000399362.4	-	28	3243	c.2890delA	c.(2890-2892)tgfs	p.M964fs	CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs	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													8	863	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aafs	p.K765fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	765	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378													10	593	---	---	---	---					
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:43647213delT	ENST00000292246.3	-	2	302	c.132delA	c.(130-132)aafs	p.K44fs	ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_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													12	435	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	GAT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:53529193_53529195delGAT	ENST00000288139.3	+	0	118_120				CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													9	625	---	---	---	---					
DNAH12	201625	broad.mit.edu	37	3	57509313	57509313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:57509313delT	ENST00000351747.2	-	4	456	c.276delA	c.(274-276)aafs	p.K92fs	DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	92	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G93fs*7(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AACTCACTCCTTTTTTTTTCA	0.254													7	146	---	---	---	---					
ROBO2	6092	broad.mit.edu	37	3	77595588	77595588	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:77595588delT	ENST00000461745.1	+	7	1934	c.1034delT	c.(1033-1035)gtfs	p.V345fs	ROBO2_ENST00000332191.8_Frame_Shift_Del_p.V345fs|ROBO2_ENST00000487694.3_Frame_Shift_Del_p.V361fs	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	345	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGCCAGCTGTTTTTTGGCAG	0.488													8	1847	---	---	---	---					
FILIP1L	11259	broad.mit.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:99568272_99568273insT	ENST00000331335.5	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aataaafs	p.NK749fs	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	749						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406													11	961	---	---	---	---					
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:113380090delT	ENST00000316407.4	-	7	849	c.439delA	c.(439-441)ttfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	148					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373													9	715	---	---	---	---					
RP11-167H9.4	0	broad.mit.edu	37	3	149769296	149769296	+	RNA	DEL	C	C	-	rs59377959		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:149769296delC	ENST00000487840.1	+	0	46																											TTCCTGGTGTCtttttttttt	0.463													9	465	---	---	---	---					
MB21D2	151963	broad.mit.edu	37	3	192516280	192516280	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:192516280delT	ENST00000392452.2	-	2	1691	c.1371delA	c.(1369-1371)aafs	p.K457fs		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	457										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGCTGCAGTTTTTTTGCCA	0.512													7	896	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400639	195400641	+	RNA	DEL	GTG	GTG	-	rs145880653		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284																											AGGTGGGCTTGTGGAGGAATGGG	0.552													9	63	---	---	---	---					
TACC3	10460	broad.mit.edu	37	4	1730308	1730308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:1730308delC	ENST00000313288.4	+	4	1285	c.1179delC	c.(1177-1179)gafs	p.D393fs		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	393						centrosome		p.M396fs*17(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGGAGAGGACCCCCCCATGC	0.612													7	619	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													15	662	---	---	---	---					
KLF3	51274	broad.mit.edu	37	4	38691476	38691476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:38691476delC	ENST00000261438.5	+	4	976	c.671delC	c.(670-672)tcfs	p.S224fs	KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AACTCAGTGTCCCCCCCGCAA	0.423													7	964	---	---	---	---					
UBA6	55236	broad.mit.edu	37	4	68530906	68530907	+	Splice_Site	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:68530906_68530907insA	ENST00000322244.4	-	10	956_957		c.e10+1		UBA6_ENST00000420827.2_Splice_Site	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAATACTTACAAAAAAAACTG	0.322													8	316	---	---	---	---					
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:81123250_81123252delCAG	ENST00000339711.4	+	10	1865_1867	c.634_636delCAG	c.(634-636)del	p.Q217del	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	410	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gct>g	p.EA158del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													10	906	---	---	---	---					
MMRN1	22915	broad.mit.edu	37	4	90844391	90844393	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:90844391_90844393delAGC	ENST00000394980.1	+	5	1242_1244	c.923_925delAGC	c.(922-927)gag>g	p.EQ308del	MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del|MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del			Q13201	MMRN1_HUMAN	multimerin 1	308					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)		GGAGTAGCTGAGCAGCAGCAGCA	0.448													9	1658	---	---	---	---					
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:105412465_105412467delGCC	ENST00000394767.2	-	2	943_945	c.493_495delGGC	c.(493-495)del	p.G165del	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	0	Interaction with DVL1 (By similarity).				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695													13	563	---	---	---	---					
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)del	p.P333del	NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522													12	616	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:134073569_134073571delCTG	ENST00000264360.4	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctc>ct	p.LC758del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	758	Cys-rich.				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)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													8	294	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													7	416	---	---	---	---					
FAM198B	51313	broad.mit.edu	37	4	159091487	159091489	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:159091487_159091489delGCT	ENST00000393807.5	-	3	1327_1329	c.921_923delAGC	c.(919-924)gcg>gc	p.AA307del	FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	307						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458													7	216	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaa>a	p.KE85del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	85					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													12	940	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190878636	190878638	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr4:190878636_190878638delAGG	ENST00000226798.4	+	6	738_740	c.516_518delAGG	c.(514-519)gca>gc	p.AG172del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	172					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GTAAAACAGCAGGAGAAGAAGAA	0.355													8	505	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)gafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome				13	1793	---	---	---	---					
AC026703.1	0	broad.mit.edu	37	5	32789822	32789823	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:32789822_32789823delGT	ENST00000326958.1	+	1	878_879	c.315_316delGT	c.(313-318)gggtfs	p.GC105fs	NPR3_ENST00000265074.8_3'UTR																							CTGATTTTGGGTGTGTGTGTGT	0.421													10	575	---	---	---	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)ttt>t	p.CF23del		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													7	443	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52397308	52397308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:52397308delT	ENST00000396954.3	-	5	935	c.258delA	c.(256-258)aafs	p.K86fs	MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000510818.2_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AGCTAATGACTTTTTTCCCTT	0.318													7	1616	---	---	---	---					
AGGF1	55109	broad.mit.edu	37	5	76358966	76358967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:76358966_76358967insA	ENST00000312916.7	+	14	2416_2417	c.2034_2035insA	c.(2032-2037)aaaaaafs	p.KK678fs		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	678					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAAACAAGAACAAAAAAAACTG	0.465													12	1568	---	---	---	---					
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(697-702)acaaaafs	p.TK233fs		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401													12	776	---	---	---	---					
EGR1	1958	broad.mit.edu	37	5	137801633	137801635	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:137801633_137801635delCAG	ENST00000239938.4	+	1	455_457	c.183_185delCAG	c.(181-186)aac>aa	p.NS61del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	61	Gly/Ser-rich.				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagcagc	0.700													10	311	---	---	---	---					
ARSI	340075	broad.mit.edu	37	5	149676817	149676817	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:149676817delA	ENST00000328668.7	-	2	2249	c.1670delT	c.(1669-1671)tcfs	p.F557fs		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	557						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTTTACGGAAAAAGGATCG	0.532													7	847	---	---	---	---					
HMGB3P22	0	broad.mit.edu	37	5	179121145	179121146	+	RNA	INS	-	-	A	rs57192054		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:179121145_179121146insA	ENST00000442010.2	+	0	253																											aactccgtctcaaaaaaaaaaa	0.485													8	69	---	---	---	---					
CANX	821	broad.mit.edu	37	5	179149920	179149920	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr5:179149920delT	ENST00000247461.4	+	11	1498	c.1298delT	c.(1297-1299)atfs	p.I433fs	CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs|CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	433				SDI -> LTF (in Ref. 9; AAA35696).	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCTGACATTTTTTTTGAC	0.423													10	587	---	---	---	---					
DTNBP1	84062	broad.mit.edu	37	6	15638037	15638038	+	Splice_Site	INS	-	-	A	rs140124163		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:15638037_15638038insA	ENST00000338950.5	-	4	267		c.e4-2		DTNBP1_ENST00000355917.3_Splice_Site|DTNBP1_ENST00000344537.5_Splice_Site	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1						actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGCA	0.366									Hermansky-Pudlak syndrome				7	476	---	---	---	---					
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)cfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	175						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495													7	435	---	---	---	---					
CDSN	1041	broad.mit.edu	37	6	31084620	31084622	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:31084620_31084622delCCA	ENST00000376288.2	-	2	796_798	c.770_772delTGG	c.(769-774)gac>g	p.VD257del	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	257	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCGTGCTGGTCCACCACCACCAC	0.635													7	320	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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													13	1823	---	---	---	---					
C6orf89	221477	broad.mit.edu	37	6	36867371	36867371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:36867371delC	ENST00000480824.2	+	3	445	c.151delC	c.(151-153)ccfs	p.P53fs	C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000510325.2_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	53						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACCTCAGAGACCCCCCCCGCA	0.428													8	550	---	---	---	---					
SYNCRIP	10492	broad.mit.edu	37	6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:86332353_86332354insT	ENST00000355238.6	-	8	1060_1061	c.854_855insA	c.(853-855)aagfs	p.K285fs	SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411													11	1188	---	---	---	---					
MCHR2	84539	broad.mit.edu	37	6	100382357	100382358	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:100382357_100382358insA	ENST00000281806.2	-	5	937_938	c.623_624insT	c.(622-624)tccfs	p.S208fs	MCHR2_ENST00000445970.1_Frame_Shift_Ins_p.S208fs|MCHR2_ENST00000369212.1_Frame_Shift_Ins_p.S208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAGT	0.342													11	497	---	---	---	---					
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)cag>ca	p.HQ32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596													11	713	---	---	---	---					
SHPRH	257218	broad.mit.edu	37	6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:146264834_146264836delATC	ENST00000367503.3	-	9	2079_2081	c.1681_1683delGAT	c.(1681-1683)del	p.D561del	SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_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													11	821	---	---	---	---					
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2755-2760)gaaaaafs	p.EK919fs		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	919	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.480													8	631	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161469776	161469776	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr6:161469776delA	ENST00000392142.4	+	3	620	c.472delA	c.(472-474)aafs	p.K159fs	MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.K159fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.K159fs	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	159					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.N160fs*8(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGTGATCGTAAAAAAAATGT	0.403													8	633	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:39379288_39379290delCAG	ENST00000518318.2	+	5	601_603	c.559_561delCAG	c.(559-561)del	p.Q196del	POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													7	162	---	---	---	---					
ZNF733P	0	broad.mit.edu	37	7	62752415	62752416	+	RNA	INS	-	-	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:62752415_62752416insC	ENST00000331425.6	-	0	1019_1020					NR_003952.1																						GCATAGGGTTTTCTCTAGTATG	0.421													9	116	---	---	---	---					
CCT6P1	0	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:65222951delT	ENST00000442266.1	+	0	561																											TTTCTGTAACTTTTTTTTTTT	0.323													7	86	---	---	---	---					
AUTS2	26053	broad.mit.edu	37	7	70255577	70255579	+	In_Frame_Del	DEL	CCA	CCA	-	rs35604576		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:70255577_70255579delCCA	ENST00000342771.4	+	19	3696_3698	c.3375_3377delCCA	c.(3373-3378)agc>ag	p.SH1125del	AUTS2_ENST00000406775.2_In_Frame_Del_p.SH1101del	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1125	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACGACTACAGccaccaccaccac	0.680													9	137	---	---	---	---					
TYW1B	441250	broad.mit.edu	37	7	72040750	72040751	+	RNA	INS	-	-	A	rs72347331		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:72040750_72040751insA	ENST00000438125.1	-	0	1399							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										AACATCCCTAGAAAAAAAAAAT	0.332													10	203	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885					NR_002164.1																						ATACCACCCCCGGGGCATGCCA	0.505													8	91	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72667747	72667747	+	RNA	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:72667747delT	ENST00000425256.1	-	0	633					NR_002164.1																						tttttttttcttttttttttt	0.388													9	130	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120					NR_002164.1																						CGTTCTACCAgtttttttttgt	0.441													7	417	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)afs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495													10	1792	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100479332	100479332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:100479332delG	ENST00000388793.4	+	4	524	c.304delG	c.(304-306)ggfs	p.G106fs	SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	106				G -> GG (in Ref. 3; CAB46374).	cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCCTATGCTGGGGGGGGTGG	0.607													8	334	---	---	---	---					
LAMB4	22798	broad.mit.edu	37	7	107763584	107763584	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:107763584delA	ENST00000388781.3	-	2	109	c.26delT	c.(25-27)tgfs	p.L9fs	LAMB4_ENST00000414450.2_Frame_Shift_Del_p.L9fs|LAMB4_ENST00000388780.3_Frame_Shift_Del_p.L9fs|LAMB4_ENST00000205386.4_Frame_Shift_Del_p.L9fs	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	9					cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACCAAGGTGCAAAAAAAGGGT	0.308													7	411	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3																						ACCCACATTTCTACTTTCTTTAT	0.517													8	321	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													20	89	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151853388	151853388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr7:151853388delG	ENST00000355193.2	-	46	12103	c.11885delC	c.(11884-11886)ctfs	p.P3963fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.P3906fs					lysine (K)-specific methyltransferase 2C																		TGGTGTAGGAGGAAGAGAGGC	0.438													147	462	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													13	568	---	---	---	---					
ANGPT2	285	broad.mit.edu	37	8	6378797	6378798	+	Frame_Shift_Ins	INS	-	-	T	rs34047276		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:6378797_6378798insT	ENST00000325203.5	-	4	1174_1175	c.700_701insA	c.(700-702)agtfs	p.S234fs	ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs			O15123	ANGP2_HUMAN	angiopoietin 2	234					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGCAGTCACTATTTTTTTTTCT	0.366													8	604	---	---	---	---					
FAM66D	0	broad.mit.edu	37	8	11994626	11994627	+	RNA	DEL	GT	GT	-	rs138516564	by1000genomes	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:11994626_11994627delGT	ENST00000434078.2	+	0	608					NR_027425.1																						gtatttgtgcgtgtgtgtgtgt	0.510													7	139	---	---	---	---					
CTD-2547L16.1	0	broad.mit.edu	37	8	17946060	17946060	+	RNA	DEL	T	T	-	rs142591230		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:17946060delT	ENST00000499554.2	+	0	483				CTD-2547L16.1_ENST00000521775.1_RNA																							GTGAACACTCttttttttttt	0.438													14	138	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaa>a	p.KE506del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	506					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				13	507	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)ggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					8	2190	---	---	---	---					
TP53INP1	0	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gag>ga	p.EE50del	TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptosis	PML body		p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													7	346	---	---	---	---					
RGS22	26166	broad.mit.edu	37	8	101076229	101076229	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:101076229delT	ENST00000360863.6	-	8	961	c.767delA	c.(766-768)agfs	p.K256fs	RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	256					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGATGGGTCCTTTTTTGTCCT	0.328													7	1733	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			7	620	---	---	---	---					
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTTTCTTACAGTTTTTTTTTCA	0.322													10	399	---	---	---	---					
SLC39A4	55630	broad.mit.edu	37	8	145637952	145637954	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr8:145637952_145637954delCAG	ENST00000276833.5	-	11	2140_2142	c.1837_1839delCTG	c.(1837-1839)del	p.L613del	SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	638						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGTACAGGGACAGCAGCAGCAGG	0.601													7	1298	---	---	---	---					
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)del	p.E1039del	KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463													12	809	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													13	78	---	---	---	---					
ECM2	1842	broad.mit.edu	37	9	95277146	95277148	+	In_Frame_Del	DEL	TCC	TCC	-	rs137929518	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:95277146_95277148delTCC	ENST00000344604.5	-	4	968_970	c.819_821delGGA	c.(817-822)gat>ga	p.ED273del	ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ctcctcctcatcctcctcctcct	0.606													17	1074	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													11	60	---	---	---	---					
CCBL1	883	broad.mit.edu	37	9	131600393	131600393	+	Frame_Shift_Del	DEL	A	A	-	rs34879109		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:131600393delA	ENST00000436267.2	-	7	806	c.657delT	c.(655-657)ttfs	p.F219fs	CCBL1_ENST00000302586.3_Frame_Shift_Del_p.F125fs|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Frame_Shift_Del_p.F75fs			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	125					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CGTAGCAGTCAAAAAAGGGTT	0.537													8	1091	---	---	---	---					
GRIN1	2902	broad.mit.edu	37	9	140056884	140056886	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr9:140056884_140056886delGAG	ENST00000371561.3	+	13	2877_2879	c.1780_1782delGAG	c.(1780-1782)del	p.E598del	GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	598					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTGAACAGCGAGGAGGAGGAGG	0.739													8	228	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr10:24822125_24822127delGAA	ENST00000376451.2	+	11	2682_2684	c.2422_2424delGAA	c.(2422-2424)del	p.E812del	KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del			Q5T5P2	SKT_HUMAN	KIAA1217	1129					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						GGATGAGGAGGAAGAAGAAGAAG	0.552													8	521	---	---	---	---					
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs78912196		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acfs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269													32	433	---	---	---	---					
DNAJC12	56521	broad.mit.edu	37	10	69565430	69565433	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr10:69565430_69565433delTCTT	ENST00000225171.2	-	4	562_565	c.410_413delAAGA	c.(409-414)agfs	p.KE137fs	DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	137					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						AGCCAGCTCCTCTTTCTTTCTTTC	0.446													8	1571	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				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)			CACAGTGGGGCTCCTCCTCCTCC	0.635													15	1139	---	---	---	---					
ABCC2	1244	broad.mit.edu	37	10	101559000	101559000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr10:101559000delA	ENST00000370449.4	+	8	1017	c.904delA	c.(904-906)aafs	p.K303fs		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	303						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCTGGGACCAAAAAAGATGT	0.403													13	1719	---	---	---	---					
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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													9	974	---	---	---	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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	1172	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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													19	1164	---	---	---	---					
TMEM132A	54972	broad.mit.edu	37	11	60703785	60703787	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr11:60703785_60703787delGGA	ENST00000005286.4	+	11	2634_2636	c.2481_2483delGGA	c.(2479-2484)agg>ag	p.RE827del	TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	826	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich.					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGAAGCCAGggaggaggaggag	0.635													7	645	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183765	61183767	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr11:61183765_61183767delAGG	ENST00000340437.4	-	6	984_986	c.904_906delCCT	c.(904-906)del	p.P302del	CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	259	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGTGGATACCAGGAGGAGGAGGA	0.611													11	477	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26640046	26640046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:26640046delT	ENST00000381340.3	-	40	5925	c.5509delA	c.(5509-5511)ggfs	p.R1837fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1837					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCATCGTCCCTTTTTTTGTTA	0.358													10	1062	---	---	---	---					
LRRK2	120892	broad.mit.edu	37	12	40713870	40713870	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:40713870delA	ENST00000298910.7	+	34	4966	c.4908delA	c.(4906-4908)tcfs	p.S1636fs		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1636					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.R1639fs*15(1)|p.R1651fs*15(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AATTTCTTTCAAAAAAAAGGA	0.353											OREG0003827	type=REGULATORY REGION|Gene=LOC486608|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	524	---	---	---	---					
KRT73	319101	broad.mit.edu	37	12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)ccfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TATCTCATGGTTTTTTTGGTG	0.532													7	1536	---	---	---	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													7	1506	---	---	---	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													12	1329	---	---	---	---					
CEP290	80184	broad.mit.edu	37	12	88524079	88524079	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:88524079delT	ENST00000552810.1	-	9	978	c.635delA	c.(634-636)acfs	p.N212fs	CEP290_ENST00000309041.7_Frame_Shift_Del_p.N212fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	212					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AAGCTCATAGTTTTTTTTAGA	0.318													10	951	---	---	---	---					
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:121017154_121017156delCTC	ENST00000341039.2	-	4	323_325	c.307_309delGAG	c.(307-309)del	p.E103del	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517													7	647	---	---	---	---					
SNRNP35	11066	broad.mit.edu	37	12	123950525	123950525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:123950525delA	ENST00000526639.2	+	2	1017	c.438delA	c.(436-438)ggfs	p.G146fs	SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.G146fs|SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.G151fs|SNRNP35_ENST00000527158.2_Intron	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	146					mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GTCTTGGGGGAAAAAAGGAGT	0.502													7	743	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													13	1263	---	---	---	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													7	332	---	---	---	---					
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379													8	657	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													7	37	---	---	---	---					
CDK8	1024	broad.mit.edu	37	13	26975609	26975611	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr13:26975609_26975611delCAG	ENST00000381527.3	+	12	1620_1622	c.1117_1119delCAG	c.(1117-1119)del	p.Q377del	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	377	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TGAGAAGAACCAGCAGCAGCAGC	0.463													11	282	---	---	---	---					
KIAA1704	0	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr13:45580365_45580367delGAT	ENST00000361121.2	+	3	285_287	c.250_252delGAT	c.(250-252)del	p.D88del	KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del			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													9	1453	---	---	---	---					
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)tgafs	p.*320fs	DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000465066.1_5'UTR	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													12	913	---	---	---	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaaggafs	p.G728fs	RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs			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													8	330	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													28	51	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102229	22102231	+	In_Frame_Del	DEL	TAG	TAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:22102229_22102231delTAG	ENST00000542433.1	-	1	865_867	c.768_770delCTA	c.(766-771)tat>ta	p.YY256del		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		ACAGGGGACATAGTAGACTGTGA	0.552													40	186	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)afs	p.E1294fs	ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	441	---	---	---	---					
PSMA6	5687	broad.mit.edu	37	14	35782215	35782216	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:35782215_35782216insA	ENST00000261479.4	+	5	658_659	c.538_539insA	c.(538-540)aaafs	p.K180fs	PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.K180fs|PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.K161fs|PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.K186fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.K101fs|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAGCTTCCTTGAAAAAAAAGTG	0.406													10	1013	---	---	---	---					
SYNE2	23224	broad.mit.edu	37	14	64488704	64488704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:64488704delA	ENST00000358025.3	+	37	5712	c.5482delA	c.(5482-5484)aafs	p.K1829fs	SYNE2_ENST00000344113.4_Frame_Shift_Del_p.K1829fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.K1829fs|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1829					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTTAATACCAAAAAAAGTGT	0.318													7	657	---	---	---	---					
RP11-973N13.4	0	broad.mit.edu	37	14	65002366	65002367	+	RNA	INS	-	-	T	rs45532333		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:65002366_65002367insT	ENST00000554918.1	-	0	52																											GTAAGATCTGATTTTTTTTTCA	0.436													9	189	---	---	---	---					
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)afs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446													18	263	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)del	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GTAGGgctgcctgctgctgctgc	0.650													8	210	---	---	---	---					
MLH3	27030	broad.mit.edu	37	14	75514603	75514604	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:75514603_75514604insT	ENST00000355774.2	-	2	1970_1971	c.1755_1756insA	c.(1753-1758)aaaatcfs	p.I586fs	MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	586					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTGCTAGATTCTTTTTTTTTCT	0.356								Mismatch excision repair (MMR)					11	746	---	---	---	---					
TMED10	10972	broad.mit.edu	37	14	75601711	75601712	+	Splice_Site	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:75601711_75601712insA	ENST00000303575.4	-	5	590		c.e5-2		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TTGTTGACTCTAAAAAAAAACA	0.426													10	369	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gga>g	p.EG89del	DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													11	984	---	---	---	---					
NIPA2	81614	broad.mit.edu	37	15	23021238	23021239	+	Frame_Shift_Ins	INS	-	-	T	rs145147241	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:23021238_23021239insT	ENST00000337451.3	-	4	710_711	c.98_99insA	c.(97-99)aggfs	p.R33fs	NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.R33fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	33						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAAGGAGGCCCTTTTTTTTCAA	0.450													8	696	---	---	---	---					
WHAMMP3	0	broad.mit.edu	37	15	23205231	23205231	+	RNA	DEL	G	G	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:23205231delG	ENST00000400153.2	-	0	656					NR_003521.1																						GCTCAAGTCAGGACAGTGTAA	0.333													9	54	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													8	65	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25299375	25299376	+	RNA	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:25299375_25299376insA	ENST00000549804.2	+	0	98				SNHG14_ENST00000547292.1_RNA|SNORD116-2_ENST00000384274.1_RNA																							GATGAGTCCCCAAAAAAAACAT	0.495													8	972	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42003383	42003385	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:42003383_42003385delCAG	ENST00000219905.7	+	8	3101_3103	c.2920_2922delCAG	c.(2920-2922)del	p.Q981del	MGA_ENST00000545763.1_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del|MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	981	Gln-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCGGCAGGCACAGCAGCAGCAGC	0.458													8	584	---	---	---	---					
FAM214A	56204	broad.mit.edu	37	15	52901069	52901069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:52901069delT	ENST00000261844.7	-	6	2194	c.2042delA	c.(2041-2043)atfs	p.N681fs	FAM214A_ENST00000546305.2_Frame_Shift_Del_p.N688fs	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	681																	TTTTGAGTCATTTTTTTTGGA	0.284													7	342	---	---	---	---					
NARG2	79664	broad.mit.edu	37	15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)tcfs	p.F382fs	NARG2_ENST00000261520.4_Intron|NARG2_ENST00000439632.1_Intron	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	0						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCTTAGGGGAAAAAAAAAGC	0.338													9	256	---	---	---	---					
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-	rs141710149		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gcc>gc	p.AS531del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	532	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.640													9	320	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	RNA	DEL	C	C	-	rs57286078		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433													10	186	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													9	71	---	---	---	---					
TIGD7	91151	broad.mit.edu	37	16	3350472	3350472	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:3350472delT	ENST00000396862.1	-	2	1971	c.143delA	c.(142-144)atfs	p.N48fs	TIGD7_ENST00000268674.2_Frame_Shift_Del_p.N48fs	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	48	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TAACTTCTTATTTTTTTTAAT	0.358													7	789	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304																											GCAGggtgacggtggtggtggtg	0.483													10	418	---	---	---	---					
PKD1P5	0	broad.mit.edu	37	16	18480898	18480898	+	RNA	DEL	G	G	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:18480898delG	ENST00000542593.1	-	0	617																											CTCCCATTCAGGGGCACCACC	0.657													10	46	---	---	---	---					
RRN3P2	0	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:29110406delT	ENST00000564580.1	+	0	1098																											TTAAAAAATCTTTTTTTTTTT	0.299													8	109	---	---	---	---					
RRN3P2	0	broad.mit.edu	37	16	29113497	29113498	+	RNA	INS	-	-	T	rs11366120		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:29113497_29113498insT	ENST00000564580.1	+	0	1360																											GAGGAGGTGGAttttttttttc	0.545													10	345	---	---	---	---					
HERC2P4	0	broad.mit.edu	37	16	32182872	32182873	+	RNA	INS	-	-	AG			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:32182872_32182873insAG	ENST00000564730.1	-	0	15_16																											TCTGTGGGAGCAGTCGCGATTT	0.559													11	391	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													11	426	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs66598941		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)del	p.E1033del	WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_5'UTR	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	305										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695													21	21	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:3721809_3721811delTCC	ENST00000158149.3	-	11	1111_1113	c.216_218delGGA	c.(214-219)gaa>ga	p.EE78del	C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	358							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													11	735	---	---	---	---					
NUP88	4927	broad.mit.edu	37	17	5290964	5290964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:5290964delT	ENST00000573584.1	-	13	2305	c.1796delA	c.(1795-1797)agfs	p.K600fs		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	600					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TAGTTGTTTCTTTTTTTGGTC	0.363													7	1638	---	---	---	---					
PER1	5187	broad.mit.edu	37	17	8049759	8049761	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:8049759_8049761delAGG	ENST00000317276.4	-	16	2204_2206	c.1967_1969delCCT	c.(1966-1971)tat>t	p.SY656del	PER1_ENST00000354903.5_In_Frame_Del_p.SY640del|PER1_ENST00000581082.1_In_Frame_Del_p.SY636del|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	656	CSNK1E binding domain (By similarity).|Poly-Ser.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAGGTGGTATAGGAGGAGGAGGA	0.586			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					7	689	---	---	---	---					
SLFN5	162394	broad.mit.edu	37	17	33591628	33591628	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:33591628delC	ENST00000299977.4	+	4	1713	c.1565delC	c.(1564-1566)acfs	p.T522fs	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	522					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AACTTCATGACCCCCCAGCAC	0.453													7	747	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													7	427	---	---	---	---					
RP11-115K3.2	0	broad.mit.edu	37	17	36214141	36214141	+	RNA	DEL	A	A	-	rs76035088		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:36214141delA	ENST00000590732.1	-	0	325					NR_024178.1																						CAGCaaaattaaaaaaaaaaa	0.328													7	121	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37686901	37686901	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:37686901delC	ENST00000447079.4	+	14	3838	c.3805delC	c.(3805-3807)ccfs	p.P1270fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.P1261fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1270	Poly-Pro.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCCCCCTGAGCCCCCCGGACC	0.562			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			7	2265	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)del	p.G24del	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													15	237	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													15	517	---	---	---	---					
CCDC103	388389	broad.mit.edu	37	17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:42980014_42980015delAG	ENST00000417826.2	+	4	653_654	c.558_559delAG	c.(556-561)gcagfs	p.AE186fs	CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs|FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	186								p.E187K(1)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644													9	375	---	---	---	---					
RP11-798G7.5	0	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:43591984_43591985insG	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTGGGTCATGCGGAGCGAGTTT	0.411													37	364	---	---	---	---					
RP11-798G7.5	0	broad.mit.edu	37	17	43596433	43596433	+	RNA	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:43596433delT	ENST00000253803.2	+	0	267																											TTTTTGCCGGTTTTGGCCTAC	0.478													13	4256	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219355	45219355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:45219355delC	ENST00000066544.3	-	12	1508	c.1415delG	c.(1414-1416)gtfs	p.G472fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGCTAAATAACCTTTCCCCAT	0.368													15	936	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													27	189	---	---	---	---					
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:46622130_46622132delAGG	ENST00000330070.4	-	1	1309_1311	c.142_144delCCT	c.(142-144)del	p.P48del	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	48					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596													9	508	---	---	---	---					
TOB1	10140	broad.mit.edu	37	17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:48940610_48940612delGTG	ENST00000499247.2	-	2	1200_1202	c.767_769delCAC	c.(766-771)cag>c	p.PQ256del	TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517													8	240	---	---	---	---					
BZRAP1	9256	broad.mit.edu	37	17	56386383	56386384	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:56386383_56386384insT	ENST00000355701.3	-	22	5119_5120	c.4249_4250insA	c.(4249-4251)ccgfs	p.P1417fs	BZRAP1_ENST00000343736.4_Frame_Shift_Ins_p.P1417fs|BZRAP1_ENST00000268893.6_Frame_Shift_Ins_p.P1357fs	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													166	1111	---	---	---	---					
DDX5	1655	broad.mit.edu	37	17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:62496298delT	ENST00000225792.5	-	13	1989	c.1588delA	c.(1588-1590)ctfs	p.T530fs	DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs|DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	530					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCATTCTGAGTTTTTGCCCCA	0.413			T	ETV4	prostate								7	1527	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65940454	65940456	+	In_Frame_Del	DEL	CAC	CAC	-	rs143937013		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:65940454_65940456delCAC	ENST00000321892.4	+	22	7105_7107	c.7044_7046delCAC	c.(7042-7047)agc>ag	p.ST2348del	BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del|BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2348	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCACAGCCAGCACCACCACCACC	0.542													11	677	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr17:66141017delC	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAA	0.323													7	287	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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	407	---	---	---	---					
TTC39C	125488	broad.mit.edu	37	18	21662914	21662914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:21662914delT	ENST00000317571.3	+	6	1089	c.853delT	c.(853-855)ttfs	p.F286fs	TTC39C_ENST00000304621.6_Frame_Shift_Del_p.F225fs|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	286							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AGTCCGCCCGTTTTTTGCCTT	0.413													7	884	---	---	---	---					
OSBPL1A	114876	broad.mit.edu	37	18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aagactfs	p.T895fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs	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													10	1145	---	---	---	---					
TCEB3CL	728929	broad.mit.edu	37	18	44549025	44549026	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr18:44549025_44549026insGC	ENST00000451265.1	-	1	1508_1509	c.1273_1274insGC	c.(1273-1275)gcgfs	p.A425fs	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						TCGCAGCCGCTGCTCTCGGGCG	0.554													7	122	---	---	---	---					
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													8	331	---	---	---	---					
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)ccg>c	p.QP74del	YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													12	448	---	---	---	---					
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)ggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403													7	1182	---	---	---	---					
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:17160706_17160707delGA	ENST00000593360.1	-	10	3044_3045	c.1026_1027delTC	c.(1024-1029)tcgtfs	p.SR342fs	HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	403					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495													9	1587	---	---	---	---					
SBSN	374897	broad.mit.edu	37	19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						extracellular region		p.E46fs*27(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGCCCACCTCTCTCTCTGC	0.579													7	1024	---	---	---	---					
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)del	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCCACCCGCCTTCTTCTTCTTG	0.601													7	1996	---	---	---	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:38882864_38882866delCCT	ENST00000587013.1	+	3	569_571	c.491_493delCCT	c.(490-495)ccc>c	p.PS164del	SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR			Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120					multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													8	181	---	---	---	---					
TIMM50	92609	broad.mit.edu	37	19	39972604	39972604	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:39972604delA	ENST00000314349.4	+	2	632	c.499delA	c.(499-501)aafs	p.K168fs	TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000607714.1_Frame_Shift_Del_p.K65fs|TIMM50_ENST00000599794.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	65	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTATGCCAAAAAAGTTGC	0.607													10	1041	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911871	45911872	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:45911871_45911872insA	ENST00000309424.3	+	3	1133_1134	c.645_646insA	c.(643-648)aaaaaafs	p.KK215fs	ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Frame_Shift_Ins_p.KK217fs|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	215	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	p.K215N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGAAGAAGAAGAAAAAAAATCA	0.589													7	1074	---	---	---	---					
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:47883158_47883160delGGA	ENST00000328771.4	+	14	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctg>ct	p.LE966del		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	966						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGCAGCTGGAGGAGGAGGAG	0.660													12	382	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)cct>c	p.LP14del	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TTcagcagaggcagcagcagcag	0.596													7	187	---	---	---	---					
SIGLEC7	27036	broad.mit.edu	37	19	51645628	51645630	+	Translation_Start_Site	DEL	TGC	TGC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:51645628_51645630delTGC	ENST00000317643.6	+	0	71_73				SIGLEC7_ENST00000305628.7_Start_Codon_Del|SIGLEC7_ENST00000600577.1_Start_Codon_Del	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7						cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACCCCAGATAtgctgctgctgct	0.596													7	224	---	---	---	---					
CNOT3	4849	broad.mit.edu	37	19	54649671	54649671	+	Frame_Shift_Del	DEL	T	T	-	rs36665	byFrequency	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:54649671delT	ENST00000406403.1	+	8	2332	c.729delT	c.(727-729)ccfs	p.P244fs	CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs|CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	244					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACCTCCCCTCCCAGCCACA	0.632													10	556	---	---	---	---					
LILRB1	0	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)del	p.L479del	LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			9	490	---	---	---	---					
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343													7	1443	---	---	---	---					
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr20:5903283_5903285delGAG	ENST00000378961.4	+	4	697_699	c.493_495delGAG	c.(493-495)del	p.E169del		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532													9	295	---	---	---	---					
FRG1B	0	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gca>gc	p.AG104del	FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355													7	691	---	---	---	---					
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)tcfs	p.F144fs	BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542													7	1891	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													9	2325	---	---	---	---					
CBR3	874	broad.mit.edu	37	21	37510175	37510175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr21:37510175delT	ENST00000290354.5	+	2	623	c.342delT	c.(340-342)aafs	p.N114fs	CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	114						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						TGAAGACAAATTTTTTTGCCA	0.408													7	692	---	---	---	---					
SLC19A1	6573	broad.mit.edu	37	21	46951916	46951918	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr21:46951916_46951918delCAG	ENST00000311124.4	-	3	486_488	c.334_336delCTG	c.(334-336)del	p.L112del	SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del|SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del|SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	112					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCGAGTGGCCCAGCAGCAGCAGC	0.645													9	194	---	---	---	---					
TPTEP1	0	broad.mit.edu	37	22	17127506	17127507	+	RNA	INS	-	-	A			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:17127506_17127507insA	ENST00000426585.1	+	0	442																											AGGGCCTAGAGAAAAAAAAAAT	0.421													8	458	---	---	---	---					
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661172	22661173	+	RNA	INS	-	-	C	rs7410785		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:22661172_22661173insC	ENST00000426066.1	+	0	264_265					NR_027293.1																						CATACAGGTTTTCCCCCCCCAC	0.411													8	259	---	---	---	---					
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664078	22664079	+	RNA	DEL	TT	TT	-	rs114253646	by1000genomes	TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:22664078_22664079delTT	ENST00000426066.1	+	0	623					NR_027293.1																						TGTGTGTGTGTTTTTATCTTGC	0.381													7	519	---	---	---	---					
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:29445819_29445821delCAG	ENST00000544604.2	+	8	1825_1827	c.1650_1652delCAG	c.(1648-1653)gac>ga	p.DS550del	ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	550						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.660													9	430	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gcc>g	p.EA1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 7).	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						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	534	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	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				10	737	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610948	42610948	+	Frame_Shift_Del	DEL	G	G	-	rs138734341		TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:42610948delG	ENST00000359486.3	-	1	500	c.364delC	c.(364-366)agfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Del_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	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						CTGCTCCCCTGGGGGGGTCCA	0.567													7	1161	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43218401	43218401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:43218401delT	ENST00000263245.5	-	9	906	c.687delA	c.(685-687)aafs	p.K229fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	229					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCAAACTTCCTTTTTTGGCCC	0.423													9	1007	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcg>gc	p.AL139del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	139	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													13	492	---	---	---	---					
PLXNB2	23654	broad.mit.edu	37	22	50717108	50717109	+	Frame_Shift_Ins	INS	-	-	GGAGCCC			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chr22:50717108_50717109insGGAGCCC	ENST00000449103.1	-	29	4703_4704	c.4563_4564insGGGCTCC	c.(4561-4566)tccagcfs	p.S1522fs	PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.S1522fs			O15031	PLXB2_HUMAN	plexin B2	1522					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATCTGCGCTGTGGAGCCCGGAC	0.639													16	119	---	---	---	---					
RAI2	10742	broad.mit.edu	37	X	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)ttfs	p.F527fs	RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333													10	3413	---	---	---	---					
SCML2	10389	broad.mit.edu	37	X	18283726	18283726	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:18283726delT	ENST00000251900.4	-	8	1086	c.927delA	c.(925-927)aafs	p.K309fs	SCML2_ENST00000398048.3_Frame_Shift_Del_p.K45fs	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	309					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AGTTTGGACCTTTTTTCCTTG	0.358													8	1325	---	---	---	---					
RGN	9104	broad.mit.edu	37	X	46952297	46952311	+	Splice_Site	DEL	TAACTGGTCTGGGGG	TAACTGGTCTGGGGG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:46952297_46952311delTAACTGGTCTGGGGG	ENST00000397180.1	+	8	1820_1834	c.849_splice	c.e8-1	p.ITGLGV284_splice	RGN_ENST00000457380.1_Splice_Site_p.ITGLGV212_splice|RGN_ENST00000336169.3_Splice_Site_p.ITGLGV284_splice|RGN_ENST00000352078.4_Splice_Site_p.ITGLGV284_splice	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	284					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						TTTCAACAGATAACTGGTCTGGGGGTCAAAGGAAT	0.414													8	104	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76812945	76812947	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:76812945_76812947delTCT	ENST00000373344.5	-	30	6888_6890	c.6674_6676delAGA	c.(6673-6678)agg>a	p.KR2225del	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.KR2187del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2225	Poly-Lys.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGAGTATCCCTCTTCTTCTTCTT	0.365			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	1069	---	---	---	---					
GPRASP2	114928	broad.mit.edu	37	X	101972053	101972053	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:101972053delA	ENST00000543253.1	+	5	3175	c.2256delA	c.(2254-2256)gcfs	p.A752fs	GPRASP2_ENST00000535209.1_Frame_Shift_Del_p.A752fs|GPRASP2_ENST00000332262.5_Frame_Shift_Del_p.A752fs	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGCTGTGGCAAAAAAACTAT	0.343													8	1129	---	---	---	---					
NKAP	79576	broad.mit.edu	37	X	119072752	119072753	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:119072752_119072753delTC	ENST00000371410.3	-	2	573_574	c.407_408delGA	c.(406-408)afs	p.R136fs		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	136					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ATTCTCCAATTCTCTCTCTCTC	0.322													8	843	---	---	---	---					
ZBTB33	10009	broad.mit.edu	37	X	119388276	119388278	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:119388276_119388278delGAT	ENST00000326624.2	+	2	1234_1236	c.1006_1008delGAT	c.(1006-1008)del	p.D340del	ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	340					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGAAATAATAGATGATGATGATG	0.433													8	1039	---	---	---	---					
HS6ST2	90161	broad.mit.edu	37	X	131762582	131762582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:131762582delA	ENST00000370836.2	-	4	1902	c.1487delT	c.(1486-1488)tgfs	p.L496fs	HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs|HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	496						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACCTCTGCAAAAAAAGGTC	0.453													7	1516	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135455156	135455156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:135455156delG	ENST00000394143.1	+	15	8000	c.7709delG	c.(7708-7710)cgfs	p.R2570fs	GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTGTGCTGCGGGGGGACCAC	0.532													11	2780	---	---	---	---					
AFF2	2334	broad.mit.edu	37	X	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:147733548delA	ENST00000370460.2	+	2	555	c.76delA	c.(76-78)aafs	p.K27fs	AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	27					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGCACTTAAAAAAAGGGA	0.378													8	1567	---	---	---	---					
HMGB3	3149	broad.mit.edu	37	X	150156358	150156360	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:150156358_150156360delGAG	ENST00000325307.7	+	5	670_672	c.574_576delGAG	c.(574-576)del	p.E198del	HMGB3_ENST00000448905.2_In_Frame_Del_p.E198del	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggaagaagaggaggaggagg	0.443													8	581	---	---	---	---					
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HV-A5A4-01A-11D-A26I-08	TCGA-HV-A5A4-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da4ad638-a3f4-4d32-89a7-7120e39baf84	12f8208b-0c79-4d50-bbe8-616f8869ea9c	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tgc>t	p.SC62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													12	958	---	---	---	---					
