Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TRAF3IP3_chr1_209751053_209787310	209771865	ACGTGTGC others(111): Show ACGTGTGCATGTGGAGGTGTGTGCGCGCATGTGAAGGTGTGTGTGTATAT GGAGGTGTGCGTGTGCATATGCAGGTGTGCGTGTGCATGTGAAGGTGTGT GTGTGCAGGTGGAGGTACG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0282 a0001c0002t0002g0282	1	444	0.0023	-118	c.703 others(16): Show c.703-1082_703-965del	TRAF3IP3	ENSG00000009790.15	transcript	ENST00000367025.8	protein_coding	8/16			chr1	TogoVar
TRAPPC12_chr2_3374694_3484565	3416765	CTGCCCTC others(111): Show CTGCCCTCCCCCTGCCCCTTCACTGTGCCCTCCCCCTGCCCCTTCACTGT GCCCTCCCCCTGCCCCTTCACTGCCCTCCCCCTGCCCCTTCACTGTGCCC TCCCCCTGCCCCTTCACTG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03471.hp2 others(1): Show HG02622.hp2 HG02717.hp2 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0001 a0001c0004t0002 a0001c0011t0001 a0001c0004t0001 a0001c0004t0002 a0001c0011t0001	a0001c0004t0001g0056 a0001c0004t0001g0234 a0001c0004t0002g0115 others(1): Show a0001c0004t0001g0056 a0001c0004t0001g0234 a0001c0004t0002g0115 a0001c0011t0001g0230	4	344	0.0116	-118	c.116 others(19): Show c.1165-5061_1165-4944del	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC9_chr8_139722725_140462744	139747840	GGGGAGGT others(111): Show GGGGAGGTGTGCAGGGATCAGAGAAGATGCAGGGGTTACACACAGCAGGT GTCAGAGCAGGTAGGGGGGGCATACAGGGGTCAGAGTGGGTGTGAGGGTG TCCCGGGGTCAGAGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0021 a0001c0008t0003g0021	1	98	0.0102	-118	c.305 others(21): Show c.3056-15756_3056-15639del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	139748148	GTACAGGG others(111): Show GTACAGGGGTCAGAGTGGGTGTGGGGGTGTCCCGGGGTCAGAGCAGGTGG GAGGTGTACAGGGATCAGAGAAGATGCAGGGGGTATACACAGCAGGTGTC AGAGCAGGTAGGGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 NA18906.hp2 HG00140.hp2 HG01106.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0025g0082 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0025g0082	3	98	0.0306	-118	c.305 others(21): Show c.3056-16064_3056-15947del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238880659	ATTAGTAT others(111): Show ATTAGTATTAGTGTTAGTGTCAGTATTAGTGTATTTATTAGTGTTAGCAT TAGTATTAATGTTAGTATCTATTAGTATTAGTGTTAGTGTTGGTGTTAAT ATTAGCATTAGTGTCAGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02630.hp2 others(4): Show HG02109.hp1 HG02280.hp2 HG02630.hp2 HG02970.hp2 HG03453.hp2 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0180 a0001c0001t0001g0182 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0267 a0001c0001t0002g0181 a0001c0001t0002g0264 a0001c0001t0003g0178	7	338	0.0207	-118	c.36 others(19): Show c.36-29163_*36-29046del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TYW1_chr7_66991833_67244514	67027304	GATAGTAG others(111): Show GATAGTAGAATCAGATGGATTATTGTATAACCTGGAGAAAGCTTTTCTAT ATGATTCAAAATCTAGAAGCAATAAAAAAAATTAAATTTATGAATGATTT TAAAGTGTTTTACATGACC	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0304 a0001c0002t0001g0305	2	364	0.0055	-118	c.984 others(17): Show c.984+2330_984+2447del	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBAP2_chr9_33916693_34053887	33981146	TATATATA others(111): Show TATATATATATATTCTGGATATATATATATATATTCTGGATATATATATA TATATTCTGGATATATATATATATATTCTGGATATATATATATATTCTGG ATATATATATATATTCTGG	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18989.hp2 NA18964.hp1 NA18989.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0014 a0002c0001t0003g0041 a0002c0001t0003g0014 a0002c0001t0003g0041	2	356	0.0056	-118	c.520 others(17): Show c.520+5496_520+5613del	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
VIPR2_chr7_159023175_159149867	159024617	CGCAGGCA others(111): Show CGCAGGCACGCAGCGGTCTCCCAACATCAGGGCACACCGCGATCAGGTGT GTGGACAGTCGCAGGCACGCAGCGGTCCTGCAGCAGCAGGGCGCACCGCG ATCAGGTGTGTGGACAGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	336	0.0030	-118	c.58 others(11): Show c.5881_*5998del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding		3557		chr7	TogoVar
VIPR2_chr7_159023175_159149867	159024686	CAGCGGTC others(111): Show CAGCGGTCCTGCAGCAGCAGGGCGCACCGCGATCAGGTGTGTGGACAGTT GCAGGCACGCAGCGGTCTCCCAGCATCAGGGCACACCGCGATCAGGTGTG TGGACAGTCGCAGGCACGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03130.hp2 HG03453.hp1 others(1): Show HG02559.hp2 HG03130.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0028 a0001c0010t0023 a0001c0010t0037 a0001c0005t0028 a0001c0010t0023 a0001c0010t0037	a0001c0005t0028g0299 a0001c0010t0023g0011 a0001c0010t0023g0016 others(1): Show a0001c0005t0028g0299 a0001c0010t0023g0011 a0001c0010t0023g0016 a0001c0010t0037g0013	4	336	0.0119	-118	c.58 others(11): Show c.5812_*5929del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding		3488		chr7	TogoVar
WDPCP_chr2_63114559_63593477	63575401	ATATATAC others(111): Show ATATATACAGTATATACACTGTATACAGTGTATATACAGTGTATACACTG TATATACAGTATATATGCAGTATATACAGTGTATATATAGTATATACAGT ATATACACTGTATATATAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02257.hp1 HG02451.hp1 others(13): Show HG01256.hp2 HG02257.hp1 HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0028 a0001c0001t0029	a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 others(13): Show a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0003g0202 a0001c0001t0005g0199 a0001c0001t0008g0194 a0001c0001t0008g0206 a0001c0001t0011g0190 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0028g0198 a0001c0001t0029g0189	16	216	0.0741	-118	c.75+ others(17): Show c.75+12678_75+12795del	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
ZFAT_chr8_134472788_134718031	134497977	CAGGATGC others(111): Show CAGGATGCCCCCGCTGCTGGTTACACACAGGGCCTGATTTGGTAGGGTTG GGGTGGAGCCGTGATGCCCCTGCTGCTGGTTACACACAGAGCCTGATTTG GGAGGGTTGTGGTGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG02622.hp2 HG02717.hp2	a0001 a0001	a0001c0054 a0001c0055 a0001c0054 a0001c0055	a0001c0054t0001 a0001c0055t0001 a0001c0054t0001 a0001c0055t0001	a0001c0054t0001g0015 a0001c0055t0001g0014 a0001c0054t0001g0015 a0001c0055t0001g0014	2	274	0.0073	-118	c.349 others(21): Show c.3492+11524_3492+11641del	ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15			chr8	TogoVar
ZFAT_chr8_134472788_134718031	134498049	CTGCTGGT others(111): Show CTGCTGGTTACACACAGAGCCTGATTTGGGAGGGTTGTGGTGGAGCTGGG ATGCCCCCGTTGCTGGTTACACACAGAGCCTGATTTGGTAGGGCTGGGGT GGAGCTGGGATGCCCCCGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(137): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18981.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0012 a0016 a0018	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0018 a0001c0024 a0001c0026 a0001c0030 a0001c0045 a0001c0046 a0001c0053 a0002c0007 a0002c0010 a0002c0036 a0002c0038 a0003c0011 a0003c0019 a0003c0021 a0004c0013 a0004c0041 a0004c0042 a0005c0016 a0009c0061 a0011c0039 a0012c0058 a0016c0067 a0018c0062	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0018t0001 a0001c0024t0002 a0001c0026t0001 a0001c0030t0002 a0001c0045t0001 a0001c0046t0002 a0001c0053t0001 a0002c0007t0001 a0002c0007t0002 a0002c0010t0001 a0002c0036t0001 a0002c0038t0001 a0002c0038t0002 a0003c0011t0001 a0003c0019t0002 a0003c0021t0002 a0004c0013t0001 a0004c0041t0006 a0004c0042t0006 a0005c0016t0002 a0009c0061t0002 a0011c0039t0001 a0012c0058t0001 a0016c0067t0002 a0018c0062t0002	a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0076 others(136): Show a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0267 a0001c0001t0003g0262 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0057 a0001c0002t0001g0072 a0001c0002t0001g0160 a0001c0002t0001g0177 a0001c0002t0001g0222 a0001c0002t0001g0228 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0002g0009 a0001c0002t0002g0036 a0001c0002t0002g0055 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0123 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0171 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0185 a0001c0002t0002g0213 a0001c0002t0002g0253 a0001c0002t0002g0268 a0001c0003t0001g0004 a0001c0003t0001g0148 a0001c0003t0001g0150 a0001c0003t0002g0149 a0001c0003t0009g0152 a0001c0004t0001g0011 a0001c0004t0001g0034 a0001c0004t0001g0048 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0002g0010 a0001c0004t0002g0032 a0001c0004t0002g0037 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0042 a0001c0004t0002g0168 a0001c0004t0003g0101 a0001c0018t0001g0218 a0001c0018t0001g0219 a0001c0018t0001g0220 a0001c0024t0002g0084 a0001c0024t0002g0085 a0001c0026t0001g0147 a0001c0026t0001g0151 a0001c0030t0002g0046 a0001c0030t0002g0116 a0001c0045t0001g0182 a0001c0046t0002g0043 a0001c0053t0001g0247 a0002c0007t0001g0075 a0002c0007t0001g0126 a0002c0007t0001g0200 a0002c0007t0002g0068 a0002c0007t0002g0071 a0002c0007t0002g0074 a0002c0007t0002g0081 a0002c0007t0002g0082 a0002c0007t0002g0088 a0002c0007t0002g0161 a0002c0007t0002g0189 a0002c0007t0002g0206 a0002c0007t0002g0217 a0002c0010t0001g0089 a0002c0010t0001g0120 a0002c0010t0001g0124 a0002c0010t0001g0245 a0002c0010t0001g0257 a0002c0010t0001g0260 a0002c0010t0001g0261 a0002c0036t0001g0162 a0002c0036t0001g0201 a0002c0038t0001g0080 a0002c0038t0002g0069 a0003c0011t0001g0133 a0003c0011t0001g0134 a0003c0011t0001g0139 a0003c0011t0001g0198 a0003c0011t0001g0207 a0003c0011t0001g0210 a0003c0019t0002g0131 a0003c0019t0002g0241 a0003c0021t0002g0237 a0004c0013t0001g0006 a0004c0013t0001g0022 a0004c0013t0001g0024 a0004c0041t0006g0008 a0004c0042t0006g0007 a0005c0016t0002g0002 a0005c0016t0002g0240 a0009c0061t0002g0184 a0011c0039t0001g0138 a0012c0058t0001g0159 a0016c0067t0002g0025 a0018c0062t0002g0083	140	274	0.5110	-118	c.349 others(21): Show c.3492+11452_3492+11569del	ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15			chr8	TogoVar
ZFAT_chr8_134472788_134718031	134498615	CGGGGTGG others(111): Show CGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAGAGCCTGATT TGGTAGGGTTGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAC AGCCTGATTTGGTAGGGTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03654.hp1 NA18970.hp1 others(2): Show HG00609.hp1 HG03654.hp1 NA18970.hp1 NA18989.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0014 a0001c0008 a0002c0014	a0001c0008t0001 a0002c0014t0001 a0001c0008t0001 a0002c0014t0001	a0001c0008t0001g0038 a0002c0014t0001g0045 a0002c0014t0001g0078 others(2): Show a0001c0008t0001g0038 a0002c0014t0001g0045 a0002c0014t0001g0078 a0002c0014t0001g0079 a0002c0014t0001g0092	5	274	0.0183	-118	c.349 others(21): Show c.3492+10886_3492+11003del	ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15			chr8	TogoVar
ZFAT_chr8_134472788_134718031	134499147	TGGCGTGG others(111): Show TGGCGTGGAGCTGGGATGCCCCTGCTGCTGGTTACACACAGAGCCTGATT TGGGAGGGTTGGGGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACAG AGCCTGATTTGGTAGGGTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0001 a0002c0037t0001	a0002c0037t0001g0202 a0002c0037t0001g0202	1	274	0.0037	-118	c.349 others(21): Show c.3492+10354_3492+10471del	ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15			chr8	TogoVar
ZNF331_chr19_53533145_53585269	53559080	ATACACAC others(111): Show ATACACACCTACATATAGAGACACATATATACACACCATACATACACACA CACCCCATGTACACACACATATACACACCTACATATATACACACCATACA TATACAAACACACCCCATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00735.hp2 others(10): Show HG00099.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01516.hp2 HG01952.hp2 HG02559.hp1 HG02735.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004	a0001c0001t0009g0138 a0001c0001t0009g0411 a0001c0002t0002g0015 others(10): Show a0001c0001t0009g0138 a0001c0001t0009g0411 a0001c0002t0002g0015 a0001c0002t0002g0067 a0001c0002t0002g0084 a0001c0002t0002g0188 a0001c0002t0002g0273 a0001c0002t0002g0281 a0001c0002t0002g0303 a0001c0002t0004g0324 a0001c0002t0004g0325 a0001c0002t0004g0348 a0001c0002t0004g0349	13	416	0.0313	-118	c.-74 others(17): Show c.-74+3223_-74+3340del	ZNF331	ENSG00000130844.19	transcript	ENST00000449416.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF724_chr19_23216599_23255394	23239856	ACAAGAAA others(111): Show ACAAGAAATAACCAAAATTAGATCTGAACTGAAGGAGATTTAGAAATGAA AAGTCATAGAAAATATCAAGTAATCCAGGAGTTAAATATTTGAAAAAAAT TAAGAAGATAAACCGCTAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG02897.hp1 others(6): Show HG02109.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0001 a0001c0008t0001 a0001c0006t0001 a0001c0008t0001	a0001c0006t0001g0228 a0001c0006t0001g0229 a0001c0006t0001g0230 others(6): Show a0001c0006t0001g0228 a0001c0006t0001g0229 a0001c0006t0001g0230 a0001c0006t0001g0231 a0001c0006t0001g0232 a0001c0006t0001g0233 a0001c0006t0001g0234 a0001c0008t0001g0226 a0001c0008t0001g0227	9	326	0.0276	-118	c.4-7 others(13): Show c.4-7681_4-7564del	ZNF724	ENSG00000196081.10	transcript	ENST00000418100.6	protein_coding	1/3			chr19	TogoVar
ABCC9_chr12_21792389_21946426	21928337	AAGGGAAG others(110): Show AAGGGAAGAAAAAGAGAAAGAAAGAAAGAAAAAGAAAAAGAGAGAAAGAA AAGAGGAAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGAAAGAAAAAAAGA AAAGAAAAGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	212	0.0047	-117	c.285 others(17): Show c.285-2391_285-2275del	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	4/39			chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179277844	GAGACCAA others(110): Show GAGACCAAAGGCTGACCCCCCCTGAGACCAAAGGCTGACCCCCCTGCGAG ACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACC AACGGCTGACCCCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01993.hp2 HG02004.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp1	a0001 a0004 a0001 a0004	a0001c0022 a0004c0015 a0001c0022 a0004c0015	a0001c0022t0002 a0004c0015t0003 a0001c0022t0002 a0004c0015t0003	a0001c0022t0002g0028 a0004c0015t0003g0041 a0004c0015t0003g0070 a0001c0022t0002g0028 a0004c0015t0003g0041 a0004c0015t0003g0070	3	276	0.0109	-117	c.535 others(17): Show c.535-4897_535-4781del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAP1_chr7_892900_959680	924329	GAGGTCCA others(110): Show GAGGTCCACGCTGCACCCCCCACCCTCCGGGTTACACTGCAGGTCCACGC TGCACCCCCCGCCCTCCGGGTTACACTGCAGGTCCACGCTGCACCCCCCG CCCTCCGGGTTACACTGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp2 HG02280.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0006 a0001c0003t0004g0011 a0001c0001t0001g0006 a0001c0003t0004g0011	2	14	0.1429	-117	c.305 others(17): Show c.305+2107_305+2223del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	3/10			chr7	TogoVar
AMTN_chr4_70513569_70537743	70516302	ATATATAT others(110): Show ATATATATATATATATATATATACGTATATATATATATACGTATATATAT ACATATATATGTATATATATACATGTATATATATACGTATATATATATAT ACGTATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	458	0.0022	-117	c.-23 others(11): Show c.-2367_-2251del	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2266		chr4	TogoVar
ANK3_chr10_60021298_60394875	60226469	AGTATATA others(110): Show AGTATATATACTATATATATACATATACTATAGTATATATACATAGTATA TATACTATAGTATATATACATAGTATATATACTATAGTATATATACATAG TATATGTATATATACTAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp2 HG02257.hp1 others(10): Show HG01106.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02965.hp2 HG02970.hp2 HG03471.hp2 HG03486.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0008 a0019 a0027	a0001c0001 a0001c0039 a0001c0047 others(7): Show a0001c0001 a0001c0039 a0001c0047 a0001c0055 a0003c0006 a0003c0046 a0004c0087 a0008c0014 a0019c0060 a0027c0078	a0001c0001t0008 a0001c0001t0034 a0001c0001t0042 others(10): Show a0001c0001t0008 a0001c0001t0034 a0001c0001t0042 a0001c0039t0012 a0001c0047t0045 a0001c0055t0015 a0003c0006t0016 a0003c0006t0028 a0003c0046t0012 a0004c0087t0008 a0008c0014t0008 a0019c0060t0043 a0027c0078t0001	a0001c0001t0008g0047 a0001c0001t0034g0058 a0001c0001t0042g0145 others(10): Show a0001c0001t0008g0047 a0001c0001t0034g0058 a0001c0001t0042g0145 a0001c0039t0012g0034 a0001c0047t0045g0131 a0001c0055t0015g0130 a0003c0006t0016g0036 a0003c0006t0028g0010 a0003c0046t0012g0040 a0004c0087t0008g0142 a0008c0014t0008g0152 a0019c0060t0043g0046 a0027c0078t0001g0028	13	192	0.0677	-117	c.897 others(17): Show c.897+8102_897+8218del	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	8/43			chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89299508	GTGGGGTC others(110): Show GTGGGGTCTGTGCCCTGTGTGGGGTGCTTGGGGTCTGTGCCCTGTGTGAG CTGCCTGCCCCGTGTGGGGTGCGTGGGGTCTGTGCCCTGTGTGGGGTGCC TGCCCTGTGTGGGATGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG01891.hp2 HG02055.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0003 a0009c0013t0003	a0009c0013t0003g0089 a0009c0013t0003g0271 a0009c0013t0003g0089 a0009c0013t0003g0271	2	310	0.0065	-117	c.226 others(17): Show c.226+5581_226+5697del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	4/12			chr16	TogoVar
ANO3_chr11_26327130_26668289	26529107	TTATTAAT others(110): Show TTATTAATAATATATATTATATATAATATATATTATATAATAATATATAT TATATATAATATATATTATTAATAATATATATTATATATAATTATATAAT ATATATTATATAATATAA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19065.hp1 NA18612.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0117 a0001c0001t0001g0051 a0001c0001t0001g0117	2	190	0.0105	-117	c.738 others(17): Show c.738-2094_738-1978del	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1888665	TGGGTGAG others(110): Show TGGGTGAGGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAG ACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTT GTGAGGAGACACTGAGTG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02056.hp2 NA18952.hp1 others(4): Show HG02040.hp1 HG02056.hp2 NA18952.hp1 NA19057.hp2 NA19066.hp2 NA19082.hp1 NA19088.hp1	a0002 a0002	a0002c0017 a0002c0022 a0002c0027 others(4): Show a0002c0017 a0002c0022 a0002c0027 a0002c0030 a0002c0075 a0002c0123 a0002c0126	a0002c0017t0002 a0002c0022t0003 a0002c0027t0005 others(4): Show a0002c0017t0002 a0002c0022t0003 a0002c0027t0005 a0002c0030t0002 a0002c0075t0005 a0002c0123t0013 a0002c0126t0013	a0002c0017t0002g0237 a0002c0022t0003g0170 a0002c0027t0005g0298 others(4): Show a0002c0017t0002g0237 a0002c0022t0003g0170 a0002c0027t0005g0298 a0002c0030t0002g0077 a0002c0075t0005g0303 a0002c0123t0013g0110 a0002c0126t0013g0088	7	363	0.0193	-117	c.118 others(19): Show c.1182+2966_1182+3082del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1890298	GAGACACT others(110): Show GAGACACTGATGGGGTGAGGGTTGTGAGCAGATACTGAGTGGGGTGAGAG TTGTGAGGATACACTGAGTTGGGTGAGGAGTCTGTGAGGAGACACTGAAT TGGGTGAGGGTTGTGAGA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18952.hp2 NA19065.hp2 others(1): Show NA18949.hp2 NA18952.hp2 NA19065.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0009 others(1): Show a0001c0003 a0001c0008 a0001c0009 a0001c0145	a0001c0003t0001 a0001c0008t0002 a0001c0009t0002 others(1): Show a0001c0003t0001 a0001c0008t0002 a0001c0009t0002 a0001c0145t0001	a0001c0003t0001g0081 a0001c0008t0002g0027 a0001c0009t0002g0080 others(1): Show a0001c0003t0001g0081 a0001c0008t0002g0027 a0001c0009t0002g0080 a0001c0145t0001g0079	4	363	0.0110	-117	c.118 others(19): Show c.1183-3261_1183-3145del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7419179	AGATGTAC others(110): Show AGATGTACCCACACTCGGCCTCTGTACCCCGATGTACCCACACTCGGCCT CTGTACCCCGATGTACCCACACTCGGCCTCCGCACCCCAGGTGTGCCCAC ACTCGGCCCCCGCACCTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(36): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG01109.hp1 HG02074.hp2 HG02165.hp1 HG02647.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03669.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18963.hp1 NA18967.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA19000.hp1 NA19004.hp1 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp2 NA19081.hp2 NA19088.hp2 NA20300.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0006 a0010 a0015 a0022 a0023 a0032 a0034 a0036 a0038 a0040	a0001c0001 a0001c0018 a0002c0004 others(14): Show a0001c0001 a0001c0018 a0002c0004 a0002c0005 a0002c0036 a0004c0042 a0006c0010 a0006c0040 a0010c0017 a0015c0035 a0022c0041 a0023c0063 a0032c0031 a0034c0039 a0036c0057 a0038c0032 a0040c0034	a0001c0001t0002 a0001c0018t0001 a0002c0004t0002 others(16): Show a0001c0001t0002 a0001c0018t0001 a0002c0004t0002 a0002c0004t0024 a0002c0005t0001 a0002c0005t0013 a0002c0036t0006 a0004c0042t0002 a0006c0010t0009 a0006c0040t0001 a0010c0017t0001 a0015c0035t0001 a0022c0041t0009 a0023c0063t0001 a0032c0031t0013 a0034c0039t0001 a0036c0057t0002 a0038c0032t0001 a0040c0034t0001	a0001c0001t0002g0070 a0001c0001t0002g0202 a0001c0018t0001g0101 others(36): Show a0001c0001t0002g0070 a0001c0001t0002g0202 a0001c0018t0001g0101 a0001c0018t0001g0118 a0002c0004t0002g0044 a0002c0004t0002g0050 a0002c0004t0002g0222 a0002c0004t0002g0227 a0002c0004t0002g0228 a0002c0004t0002g0231 a0002c0004t0002g0244 a0002c0004t0002g0251 a0002c0004t0024g0245 a0002c0005t0001g0221 a0002c0005t0001g0226 a0002c0005t0001g0229 a0002c0005t0001g0230 a0002c0005t0001g0238 a0002c0005t0001g0239 a0002c0005t0001g0241 a0002c0005t0001g0243 a0002c0005t0013g0037 a0002c0036t0006g0132 a0004c0042t0002g0156 a0006c0010t0009g0061 a0006c0010t0009g0067 a0006c0010t0009g0069 a0006c0040t0001g0062 a0010c0017t0001g0095 a0010c0017t0001g0139 a0010c0017t0001g0147 a0015c0035t0001g0233 a0022c0041t0009g0258 a0023c0063t0001g0269 a0032c0031t0013g0036 a0034c0039t0001g0242 a0036c0057t0002g0144 a0038c0032t0001g0235 a0040c0034t0001g0225	39	298	0.1309	-117	c.968 others(19): Show c.968-21163_968-21047del	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	10/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ASB5_chr4_176208673_176274222	176219458	AATATATA others(110): Show AATATATATATTTGTATGATATATAAATATATATATTTGTATGATATATA AATATATATATTTGTATGATATATAAATATATATATGTATGATATATAAA TATGTATATATTTGTATG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18906.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0146 a0001c0001t0001g0149	2	410	0.0049	-117	c.670 others(17): Show c.670+1580_670+1696del	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASMTL_chrX_1398139_1457909	1443255	GCCGCCGT others(110): Show GCCGCCGTCTTGGACACACACCGCCATCATGGACACACACCGCCATCTTG GACACACACCGCCATCTTGGACACACACCGCCATCTTGGACAGACACCGC CATCTTGGACACACACCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp1 others(43): Show HG00099.hp2 HG00323.hp1 HG00423.hp1 HG00639.hp1 HG00741.hp1 HG01123.hp2 HG01169.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0014 a0017 a0018	a0001c0001 a0001c0008 a0001c0010 others(21): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0040 a0002c0003 a0002c0004 a0002c0005 a0002c0011 a0002c0013 a0002c0014 a0002c0032 a0002c0041 a0003c0002 a0003c0006 a0003c0042 a0004c0007 a0005c0026 a0005c0037 a0007c0016 a0008c0015 a0014c0027 a0017c0039 a0018c0035	a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 others(21): Show a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 a0001c0012t0001 a0001c0040t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001 a0002c0011t0001 a0002c0013t0001 a0002c0014t0001 a0002c0032t0001 a0002c0041t0002 a0003c0002t0001 a0003c0006t0001 a0003c0042t0001 a0004c0007t0001 a0005c0026t0001 a0005c0037t0001 a0007c0016t0001 a0008c0015t0001 a0014c0027t0001 a0017c0039t0001 a0018c0035t0001	a0001c0001t0001g0002 a0001c0008t0001g0032 a0001c0010t0001g0014 others(42): Show a0001c0001t0001g0002 a0001c0008t0001g0032 a0001c0010t0001g0014 a0001c0010t0001g0174 a0001c0010t0001g0178 a0001c0012t0001g0068 a0001c0012t0001g0164 a0001c0040t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0073 a0002c0003t0001g0091 a0002c0003t0001g0176 a0002c0004t0001g0008 a0002c0005t0001g0149 a0002c0011t0001g0074 a0002c0013t0001g0177 a0002c0014t0001g0001 a0002c0032t0001g0171 a0002c0041t0002g0069 a0003c0002t0001g0157 a0003c0002t0001g0158 a0003c0002t0001g0159 a0003c0002t0001g0165 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0006t0001g0010 a0003c0006t0001g0035 a0003c0006t0001g0036 a0003c0006t0001g0090 a0003c0042t0001g0011 a0004c0007t0001g0007 a0005c0026t0001g0175 a0005c0037t0001g0113 a0007c0016t0001g0167 a0007c0016t0001g0168 a0008c0015t0001g0166 a0008c0015t0001g0169 a0014c0027t0001g0160 a0017c0039t0001g0161 a0018c0035t0001g0147	46	185	0.2487	-117	c.94- others(14): Show c.94-1055_94-939del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128864195	TTAGCCAG others(110): Show TTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAAGAAATCAGGAGGCT GAGGAAGGAGAATTGTTTGAACCTGGGAGGTGGAGACTGCAGTGAGCCGA GATCCACCACTGCACTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0021 a0001c0010t0021	a0001c0010t0021g0030 a0001c0010t0021g0030	1	442	0.0023	-117	c.-22 others(11): Show c.-2214_-2098del	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding		2134		chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82972337	ACTGACCA others(110): Show ACTGACCACACCACACCACAGGGGATAGAAGGACCCAGTACTGACCACAC CACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCACACCACAGG GGCTAGAAGGACCTGGTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0135 a0001c0002t0016g0135	1	266	0.0038	-117	c.460 others(17): Show c.460-6708_460-6592del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81425390	TGGTGATA others(110): Show TGGTGATAGTGGTGGGTGATGTGGTTGGTGGGTGATGTGGTTGGTGGTGA TGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGTGATGTGGTTG GTGGGTGATGTGGTTGGG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0038 a0018c0023t0038	a0018c0023t0038g0027 a0018c0023t0038g0027	1	332	0.0030	-117	c.179 others(17): Show c.179-1380_179-1264del	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRIP1_chr17_61674139_61868528	61791396	TGAGGATC others(110): Show TGAGGATCACTTGAACACGAGAGGCAGAGGTTGCAGTGAGCCGAGATCAC GCCACTGCCCTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAA AAAAAAAAAAAAAAAGAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 HG03540.hp1 others(1): Show HG01109.hp2 HG02257.hp2 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0017 a0001c0005t0031 a0001c0001t0017 a0001c0005t0031	a0001c0001t0017g0142 a0001c0001t0017g0144 a0001c0001t0017g0145 others(1): Show a0001c0001t0017g0142 a0001c0001t0017g0144 a0001c0001t0017g0145 a0001c0005t0031g0146	4	266	0.0150	-117	c.147 others(19): Show c.1473+2084_1473+2200del	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BRSK2_chr11_1384934_1467689	1435396	TGGGGGTC others(110): Show TGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGG GGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGC GGAGGAGGGGTGCCGGTG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	360	0.0028	-117	c.92- others(13): Show c.92-639_92-523del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C2CD4C_chr19_400445_414147	400522	GGGGTCCC others(110): Show GGGGTCCCCAGGCCCACCCTCACTCTTCCAGGGGTCCCCAGGCCCACCCT CACTCTTCCAGGGTTCCCAGGCCCACCCTCACTCTTCCAGGGTTCCCAGG CCCACCCTCACTCTTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	322	0.0031	-117	c.64 others(11): Show c.6457_*6573del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4922		chr19	TogoVar
C2CD4C_chr19_400445_414147	400579	CCAGGGTT others(110): Show CCAGGGTTCCCAGGCCCACCCTCACTCTTCCAGGGTTCCCAGGCCCACCC TCACTCTTCCAGGGTTCCCAGGCCCACCCTCACTCTTGCAGGGGTTCCCA GGCCCACCCTCACTCTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01069.hp1 others(30): Show HG00140.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01346.hp2 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp1 HG02155.hp1 HG02698.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03098.hp1 HG03453.hp2 HG03579.hp1 HG04184.hp1 NA18906.hp1 NA18966.hp2 NA18990.hp1 NA18995.hp1 NA19000.hp2 NA19007.hp2 NA19070.hp2 NA19082.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(24): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0093 a0001c0001t0097 a0001c0001t0103 a0001c0001t0115 a0001c0001t0120 a0001c0001t0127 a0001c0002t0012 a0001c0002t0022 a0001c0002t0059 a0001c0002t0063 a0001c0002t0064 a0001c0002t0082 a0001c0002t0121 a0001c0002t0143 a0001c0004t0091 a0002c0003t0036 a0003c0005t0057	a0001c0001t0001g0001 a0001c0001t0007g0019 a0001c0001t0009g0009 others(24): Show a0001c0001t0001g0001 a0001c0001t0007g0019 a0001c0001t0009g0009 a0001c0001t0014g0008 a0001c0001t0015g0013 a0001c0001t0020g0020 a0001c0001t0026g0027 a0001c0001t0032g0029 a0001c0001t0033g0040 a0001c0001t0035g0086 a0001c0001t0093g0155 a0001c0001t0097g0064 a0001c0001t0103g0088 a0001c0001t0115g0099 a0001c0001t0120g0102 a0001c0001t0127g0106 a0001c0002t0012g0024 a0001c0002t0022g0023 a0001c0002t0059g0129 a0001c0002t0063g0132 a0001c0002t0064g0133 a0001c0002t0082g0057 a0001c0002t0121g0140 a0001c0002t0143g0147 a0001c0004t0091g0053 a0002c0003t0036g0124 a0003c0005t0057g0150	33	322	0.1025	-117	c.64 others(11): Show c.6400_*6516del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4865		chr19	TogoVar
C2CD4C_chr19_400445_414147	400611	GGGTTCCC others(110): Show GGGTTCCCAGGCCCACCCTCACTCTTCCAGGGTTCCCAGGCCCACCCTCA CTCTTGCAGGGGTTCCCAGGCCCACCCTCACTCTTGCAGGGGTTCCCAGG CCCACCCTCACTCTTCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02922.hp2 others(1): Show HG02615.hp1 HG02615.hp2 HG02922.hp2 HG03098.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0004 a0015c0016 a0001c0001 a0001c0004 a0015c0016	a0001c0001t0089 a0001c0001t0114 a0001c0004t0004 others(1): Show a0001c0001t0089 a0001c0001t0114 a0001c0004t0004 a0015c0016t0087	a0001c0001t0089g0048 a0001c0001t0114g0098 a0001c0004t0004g0004 others(1): Show a0001c0001t0089g0048 a0001c0001t0114g0098 a0001c0004t0004g0004 a0015c0016t0087g0047	4	322	0.0124	-117	c.63 others(11): Show c.6368_*6484del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4833		chr19	TogoVar
C2_chr6_31922717_31950672	31932534	CGCTCCTC others(110): Show CGCTCCTCACTTCCCAGATGTGATGGCGGCCGGGAAGAGGCGCTCCTCAC TTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG00738.hp2 others(17): Show HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG02109.hp1 HG02257.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02922.hp1 HG03139.hp1 HG03225.hp1 NA19030.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0026 a0001c0002t0001g0043 others(10): Show a0001c0002t0001g0011 a0001c0002t0001g0026 a0001c0002t0001g0043 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0167	20	395	0.0506	-117	c.443 others(16): Show c.443-1066_443-950del	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAB39L_chr13_49303650_49449064	49318508	GGGAAAGG others(110): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01981.hp1 others(13): Show HG00099.hp1 HG01109.hp1 HG01981.hp1 HG02257.hp1 HG02615.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp2 HG03516.hp2 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18969.hp2 NA18974.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0107 others(13): Show a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0107 a0001c0001t0002g0178 a0001c0001t0002g0198 a0001c0001t0002g0211 a0001c0001t0002g0252 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0300 a0001c0001t0002g0319 a0001c0001t0005g0117 a0001c0001t0005g0214 a0001c0002t0002g0088 a0001c0002t0002g0246	16	324	0.0494	-117	c.835 others(17): Show c.835-7632_835-7516del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CACNA1B_chr9_137872782_138129619	137874392	CCTGTAGG others(110): Show CCTGTAGGGACTTCCTCACCGACCGAGCTGTCTACACCTGCTGTAGGGAC TTCCTCACCGACCGAGCTGTCTACACCTGCTGTAGGGACTTCCTCACCGA CCGAGCTGTCTACACCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 NA18522.hp1 HG02615.hp2 NA18522.hp1	a0004 a0004	a0004c0025 a0004c0059 a0004c0025 a0004c0059	a0004c0025t0022 a0004c0059t0022 a0004c0025t0022 a0004c0059t0022	a0004c0025t0022g0010 a0004c0059t0022g0009 a0004c0025t0022g0010 a0004c0059t0022g0009	2	248	0.0081	-117	c.-35 others(11): Show c.-3541_-3425del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		3389		chr9	TogoVar
CACNA2D4_chr12_1786963_1923652	1908694	CGGACATC others(110): Show CGGACATCCCCACGCCAACTCCCACGCCGGACTGCGTCACGGACATCCCC ACGCCAACTCCCACGCCGGACTGCCTCACGGACATCCCCACGCCAACTCC CACGCCGGACAGCGTTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00609.hp2 others(132): Show HG00099.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0005 a0006 others(6): Show a0001 a0005 a0006 a0007 a0013 a0014 a0016 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0040 a0001c0043 a0001c0044 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0057 a0005c0039 a0006c0018 a0006c0036 a0007c0033 a0013c0037 a0014c0020 a0016c0034 a0019c0038 a0020c0054	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0008 a0001c0004t0001 a0001c0004t0014 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0012 a0001c0006t0001 a0001c0006t0002 a0001c0006t0008 a0001c0006t0018 a0001c0006t0019 a0001c0007t0001 a0001c0010t0001 a0001c0040t0001 a0001c0043t0001 a0001c0044t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0006 a0001c0057t0001 a0005c0039t0001 a0006c0018t0013 a0006c0036t0013 a0007c0033t0005 a0013c0037t0002 a0014c0020t0006 a0016c0034t0001 a0019c0038t0003 a0020c0054t0002	a0001c0001t0001g0039 a0001c0001t0001g0166 a0001c0001t0001g0170 others(132): Show a0001c0001t0001g0039 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0191 a0001c0001t0001g0216 a0001c0001t0001g0249 a0001c0001t0002g0037 a0001c0001t0002g0048 a0001c0001t0002g0131 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0190 a0001c0001t0002g0203 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0124 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0004g0016 a0001c0001t0004g0040 a0001c0001t0005g0056 a0001c0001t0008g0165 a0001c0001t0014g0318 a0001c0001t0015g0316 a0001c0001t0015g0317 a0001c0002t0001g0051 a0001c0002t0001g0113 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0231 a0001c0002t0001g0238 a0001c0002t0001g0261 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0114 a0001c0002t0002g0189 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0237 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0253 a0001c0002t0002g0257 a0001c0002t0002g0259 a0001c0002t0002g0314 a0001c0002t0003g0034 a0001c0002t0003g0239 a0001c0002t0003g0243 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0251 a0001c0002t0003g0260 a0001c0002t0004g0230 a0001c0002t0004g0250 a0001c0002t0008g0213 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0209 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0307 a0001c0003t0004g0183 a0001c0003t0004g0184 a0001c0003t0005g0029 a0001c0003t0006g0210 a0001c0003t0008g0303 a0001c0004t0001g0044 a0001c0004t0014g0315 a0001c0005t0001g0033 a0001c0005t0001g0133 a0001c0005t0001g0134 a0001c0005t0001g0135 a0001c0005t0001g0204 a0001c0005t0001g0228 a0001c0005t0001g0255 a0001c0005t0001g0258 a0001c0005t0003g0137 a0001c0005t0004g0217 a0001c0005t0012g0256 a0001c0006t0001g0071 a0001c0006t0001g0219 a0001c0006t0001g0302 a0001c0006t0002g0068 a0001c0006t0008g0072 a0001c0006t0018g0011 a0001c0006t0019g0221 a0001c0007t0001g0035 a0001c0007t0001g0046 a0001c0007t0001g0132 a0001c0007t0001g0138 a0001c0007t0001g0214 a0001c0007t0001g0244 a0001c0007t0001g0252 a0001c0010t0001g0027 a0001c0010t0001g0028 a0001c0010t0001g0030 a0001c0010t0001g0057 a0001c0010t0001g0062 a0001c0010t0001g0211 a0001c0040t0001g0222 a0001c0043t0001g0047 a0001c0044t0001g0289 a0001c0047t0001g0220 a0001c0048t0001g0070 a0001c0049t0001g0069 a0001c0050t0006g0301 a0001c0057t0001g0291 a0005c0039t0001g0116 a0006c0018t0013g0208 a0006c0036t0013g0206 a0007c0033t0005g0050 a0013c0037t0002g0121 a0014c0020t0006g0012 a0016c0034t0001g0173 a0019c0038t0003g0242 a0020c0054t0002g0254	135	318	0.4245	-117	c.487 others(15): Show c.487-774_487-658del	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	4/37			chr12	TogoVar
CAMK2B_chr7_44212154_44330594	44307151	AGGGAGGA others(110): Show AGGGAGGAGGGTGTGAGCAGAGGGAGGAGGGTGTGAGCAGAGAGAGGAGG GTGTGAACAGGAGGAGGGTATGAGCAAGGGGAGGAGGGTGTGAGCAGAGG GAAGAGGGTGTGAGCAAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0197 a0001c0002t0021g0197	1	242	0.0041	-117	c.65+ others(17): Show c.65+18089_65+18205del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/23			chr7	TogoVar
CARD11_chr7_2901142_3048867	2909392	CAGCCTCT others(110): Show CAGCCTCTCACTCTCCGTCCCTCACCCTCCGCCCCTCACTCCTCAGCCTC TCACCCCTCTGTCCCTCACCCTCTGCCCCTCACTCCCCAGCCTCTCACCC CTCCGCCCCTCACCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00597.hp1 others(89): Show HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02572.hp2 HG02602.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18952.hp1 NA18974.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0012 others(5): Show a0001 a0006 a0012 a0013 a0017 a0018 a0020 a0021	a0001c0001 a0001c0002 a0001c0006 others(18): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0015 a0001c0017 a0001c0028 a0001c0041 a0001c0053 a0001c0054 a0001c0061 a0001c0066 a0006c0026 a0012c0040 a0013c0057 a0017c0033 a0018c0063 a0020c0049 a0021c0069	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0007 a0001c0002t0015 a0001c0006t0004 a0001c0007t0001 a0001c0008t0001 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0028t0001 a0001c0041t0001 a0001c0053t0001 a0001c0054t0001 a0001c0061t0001 a0001c0066t0001 a0006c0026t0001 a0012c0040t0001 a0013c0057t0002 a0017c0033t0001 a0018c0063t0001 a0020c0049t0001 a0021c0069t0001	a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 others(89): Show a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0222 a0001c0001t0004g0106 a0001c0001t0004g0276 a0001c0001t0008g0205 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0046 a0001c0002t0001g0066 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0115 a0001c0002t0001g0120 a0001c0002t0001g0129 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0187 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0207 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0246 a0001c0002t0001g0250 a0001c0002t0001g0277 a0001c0002t0001g0285 a0001c0002t0001g0299 a0001c0002t0007g0213 a0001c0002t0015g0322 a0001c0006t0004g0305 a0001c0007t0001g0091 a0001c0007t0001g0092 a0001c0007t0001g0140 a0001c0007t0001g0174 a0001c0007t0001g0236 a0001c0007t0001g0238 a0001c0007t0001g0243 a0001c0007t0001g0244 a0001c0007t0001g0249 a0001c0008t0001g0315 a0001c0014t0001g0114 a0001c0015t0001g0136 a0001c0015t0001g0185 a0001c0015t0001g0231 a0001c0017t0001g0279 a0001c0017t0001g0281 a0001c0028t0001g0301 a0001c0041t0001g0145 a0001c0053t0001g0203 a0001c0054t0001g0270 a0001c0061t0001g0197 a0001c0066t0001g0087 a0006c0026t0001g0164 a0006c0026t0001g0229 a0012c0040t0001g0233 a0013c0057t0002g0048 a0017c0033t0001g0269 a0018c0063t0001g0252 a0020c0049t0001g0290 a0021c0069t0001g0027	92	322	0.2857	-117	c.326 others(17): Show c.3260+541_3260+657del	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CCDC187_chr9_136244973_136309094	136252151	AGAGCCGG others(110): Show AGAGCCGGCCGCCCACCCGGTCCACCCCGGGAAGAGCCGGCCGCCCACCC GGCCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCCGGGAAGGT CCAGGCGACCGTCCTGCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0079 a0079	a0079c0159 a0079c0159	a0079c0159t0120 a0079c0159t0120	a0079c0159t0120g0112 a0079c0159t0120g0112	1	400	0.0025	-117	c.13 others(11): Show c.1326_*1442del	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1326		chr9	TogoVar
CCDC57_chr17_82096470_82217842	82162714	CACACACG others(110): Show CACACACGCCCCACTGACCAGGACCCCTCTGAGCGGGCAGGTGGCATCGG GCAGCCCGCACACACGCCCCACTGACCAGGACCCCTCTGAGCGGGCAGGT GGCATCGGGCAGCCCGCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00558.hp1 others(110): Show HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp2 NA18943.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18980.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19070.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0006 a0007 a0011 a0012 a0024 a0025 a0026 a0027	a0001c0001 a0001c0023 a0001c0027 others(10): Show a0001c0001 a0001c0023 a0001c0027 a0004c0007 a0005c0008 a0006c0010 a0007c0011 a0011c0016 a0012c0017 a0024c0030 a0025c0032 a0026c0031 a0027c0020	a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0023t0001 a0001c0027t0001 a0004c0007t0002 a0005c0008t0001 a0006c0010t0001 a0007c0011t0002 a0011c0016t0001 a0012c0017t0001 a0024c0030t0001 a0025c0032t0001 a0026c0031t0001 a0027c0020t0002	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(110): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0251 a0001c0001t0004g0144 a0001c0023t0001g0248 a0001c0027t0001g0072 a0004c0007t0002g0176 a0005c0008t0001g0064 a0005c0008t0001g0065 a0005c0008t0001g0066 a0005c0008t0001g0067 a0005c0008t0001g0068 a0005c0008t0001g0173 a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0013 a0006c0010t0001g0014 a0007c0011t0002g0015 a0007c0011t0002g0016 a0007c0011t0002g0017 a0007c0011t0002g0018 a0011c0016t0001g0106 a0011c0016t0001g0184 a0012c0017t0001g0021 a0012c0017t0001g0022 a0024c0030t0001g0132 a0025c0032t0001g0109 a0026c0031t0001g0002 a0027c0020t0002g0063	113	252	0.4484	-117	c.204 others(17): Show c.2040+369_2040+485del	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	13/18			chr17	TogoVar
CDH4_chr20_61247261_61945617	61659596	TGAGGCTT others(110): Show TGAGGCTTGGAGGCAGGAGGAGGGTGGGCCTCAGCCATCTGAGGCTTGGA GGCAGGAGGAGGGTAGGCCTCAGCCATCTGAGGCTTGGAGGCAGGAGGAG GGTGGGCCTCAGGCATCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0001 a0002c0004t0002g0001	1	106	0.0094	-117	c.170 others(19): Show c.170-83904_170-83788del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61945500	GTGGCTGC others(110): Show GTGGCTGCCCCTTCTCACCAACGCTGAGGAGCACTGCAACCATCTGCACC GTGGCCGCCCCTTCTCACCGATGATGAGGAACATTGAGACTGTCTGCCCC GTGGCTGCCCCTTCTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0091 a0001c0001t0019g0091	1	106	0.0094	-117	c.85 others(11): Show c.8558_*8674del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4884		chr20	TogoVar
CEP72_chr5_607340_658553	629619	CCAGTCCT others(110): Show CCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGT GGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTC CAGTGCCGGGATTTGACT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01192.hp1 others(14): Show HG01069.hp1 HG01070.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG02015.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG03688.hp2 HG03834.hp1 NA18948.hp1 NA18950.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0006t0001g0012 a0001c0006t0001g0024	17	91	0.1868	-117	c.513 others(17): Show c.513-4113_513-3997del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132895891	TTCTGTGT others(110): Show TTCTGTGTGCCACATGAAGACACGGTGAGAAGGCAGCCAGGCTCTGTGTG CCATGAGACACGGCGAGAAGGCAGCTAGGCTCTGTGTGCCATGAGACACG GCGAGAAGGCAGCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01257.hp2 HG01884.hp1 others(4): Show HG00733.hp2 HG01257.hp2 HG01884.hp1 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02630.hp1	a0005 a0011 a0031 others(1): Show a0005 a0011 a0031 a0048	a0005c0012 a0011c0025 a0031c0107 others(1): Show a0005c0012 a0011c0025 a0031c0107 a0048c0072	a0005c0012t0001 a0011c0025t0002 a0031c0107t0002 others(1): Show a0005c0012t0001 a0011c0025t0002 a0031c0107t0002 a0048c0072t0002	a0005c0012t0001g0217 a0005c0012t0001g0218 a0005c0012t0001g0219 others(4): Show a0005c0012t0001g0217 a0005c0012t0001g0218 a0005c0012t0001g0219 a0011c0025t0002g0007 a0011c0025t0002g0014 a0031c0107t0002g0022 a0048c0072t0002g0015	7	246	0.0285	-117	c.321 others(19): Show c.3219+2951_3219+3067del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CHMP3_chr2_86498430_86568443	86544954	GGGGCGGC others(110): Show GGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGACGAAGGGCGGCCGG GCAGAGGCGCTCCTCACCTCCCGGACGAAGGGCGGCCGGGCAGAGGCGCT CCTCACCTCCCGGACGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(111): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0032	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(103): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0009g0175 a0001c0001t0009g0177 a0001c0001t0009g0179 a0001c0001t0009g0181 a0001c0001t0009g0190 a0001c0001t0009g0211 a0001c0001t0009g0248 a0001c0001t0009g0255 a0001c0001t0013g0021 a0001c0001t0014g0225 a0001c0001t0014g0226 a0001c0001t0017g0253 a0001c0001t0018g0176 a0001c0001t0019g0254 a0001c0001t0020g0265 a0001c0001t0032g0184	114	336	0.3393	-117	c.46- others(15): Show c.46-2759_46-2643del	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHMP3_chr2_86498430_86568443	86544987	AGACGAAG others(110): Show AGACGAAGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCGGACGAAGGGC GGCCGGGCAGAGGCGCTCCTCACCTCCCGGACGAAGGGCGGCCGGGCAGA GGCGCTCCTCACCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00741.hp2 others(39): Show HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0016 a0001c0002t0028 a0001c0002t0033	a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0005g0091 others(36): Show a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0005g0091 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0005g0164 a0001c0002t0006g0022 a0001c0002t0006g0280 a0001c0002t0006g0282 a0001c0002t0006g0283 a0001c0002t0006g0284 a0001c0002t0006g0288 a0001c0002t0006g0289 a0001c0002t0006g0291 a0001c0002t0006g0292 a0001c0002t0006g0295 a0001c0002t0006g0296 a0001c0002t0006g0310 a0001c0002t0007g0004 a0001c0002t0007g0279 a0001c0002t0007g0297 a0001c0002t0007g0299 a0001c0002t0007g0300 a0001c0002t0007g0301 a0001c0002t0007g0302 a0001c0002t0007g0303 a0001c0002t0007g0304 a0001c0002t0007g0307 a0001c0002t0007g0309 a0001c0002t0011g0281 a0001c0002t0011g0298 a0001c0002t0011g0305 a0001c0002t0011g0306 a0001c0002t0011g0308 a0001c0002t0016g0290 a0001c0002t0016g0293 a0001c0002t0028g0166 a0001c0002t0033g0294	42	336	0.1250	-117	c.46- others(15): Show c.46-2792_46-2676del	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar

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