Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CCNP_chr19_40217208_40231689	40223387	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0030 a0003c0005t0001g0030	1	412	0.0024	0	c.672 others(5): Show c.672+1G>C		CCNP	ENSG00000105219.10	transcript	ENST00000430325.7	protein_coding	4/4					chr19	TogoVar
CD40_chr20_46113314_46134858	46128304	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp2 HG02818.hp1 HG02897.hp2 HG02976.hp1 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 others(44): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0136 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0205 a0001c0001t0002g0206 a0002c0002t0001g0025 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0121 a0002c0002t0001g0139 a0002c0002t0001g0140 a0004c0004t0001g0031 a0004c0004t0001g0167	118	339	0.3481	2	c.647 others(13): Show c.647-4_647-3dupTT		CD40	ENSG00000101017.15	transcript	ENST00000372285.8	protein_coding	7/8				INFO_REALIGN_3_PRIME	chr20	TogoVar
CEACAM21_chr19_41571166_41591844	41586462	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010	a0001c0001 a0002c0003 a0002c0005 others(9): Show a0001c0001 a0002c0003 a0002c0005 a0002c0007 a0003c0002 a0003c0006 a0003c0013 a0003c0014 a0004c0004 a0005c0017 a0006c0015 a0010c0009	a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 others(12): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 a0002c0005t0001 a0002c0007t0001 a0003c0002t0001 a0003c0002t0006 a0003c0006t0002 a0003c0013t0001 a0003c0014t0001 a0004c0004t0001 a0004c0004t0005 a0005c0017t0001 a0006c0015t0001 a0010c0009t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 others(39): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0063 a0002c0003t0001g0003 a0002c0003t0001g0006 a0002c0003t0001g0014 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0040 a0002c0003t0001g0075 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0083 a0002c0003t0003g0003 a0002c0005t0001g0010 a0002c0005t0001g0013 a0002c0005t0001g0026 a0002c0007t0001g0035 a0002c0007t0001g0080 a0003c0002t0001g0002 a0003c0002t0001g0010 a0003c0002t0001g0012 a0003c0002t0001g0024 a0003c0002t0001g0025 a0003c0002t0001g0027 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0061 a0003c0002t0006g0002 a0003c0006t0002g0020 a0003c0006t0002g0062 a0003c0013t0001g0054 a0003c0014t0001g0002 a0004c0004t0001g0059 a0004c0004t0005g0058 a0005c0017t0001g0046 a0006c0015t0001g0079 a0010c0009t0001g0003	163	392	0.4158	0	c.1- others(4): Show c.1-2A>T		CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	6/6					chr19	TogoVar
CEL_chr9_133056981_133076861	133071270	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(42): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02145.hp2 HG02155.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02897.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03710.hp1 HG04115.hp2 NA18954.hp1 NA18991.hp1 NA19000.hp1 NA19006.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp2 NA19080.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0017t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0017t0001g0001 a0002c0004t0001g0022 a0002c0004t0001g0037	45	414	0.1087	1	c.177 others(5): Show c.1776dupC	p.Val others(5): Show p.Val593fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1799/2381	1777/2262	593/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071337	CCCCCCCC others(58): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG01099.hp2 HG02055.hp2 HG02698.hp2 others(2): Show HG01099.hp2 HG02055.hp2 HG02698.hp2 HG03139.hp2 NA19030.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0001 a0001c0001t0003 a0011c0012t0001 a0001c0001t0001 a0001c0001t0003 a0011c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0039 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0003g0001 a0011c0012t0001g0080	5	393	0.0127	-65	c.184 others(74): Show c.1843_1907delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTG CCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val615fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1865/2381	1843/2262	615/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071402	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(25): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00738.hp1 HG01175.hp2 HG01192.hp1 HG01934.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02155.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 NA18975.hp1 NA18975.hp2 NA18987.hp2 NA18991.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0093 a0001c0001t0002g0067 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0076 a0001c0002t0001g0089	28	410	0.0683	1	c.190 others(5): Show c.1908dupC	p.Val others(5): Show p.Val637fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1931/2381	1909/2262	637/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071469	CCCCCCCC others(91): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCC ACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	frameshift_variant frameshift_variant	HIGH	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	403	0.0025	-98	c.197 others(107): Show c.1975_2072delGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTG CCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTC CGGCGCCCCCCC	p.Val others(5): Show p.Val659fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1997/2381	1975/2262	659/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071533	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(178): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0011 a0014 a0018	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0017 a0001c0022 a0002c0004 a0002c0013 a0007c0010 a0011c0012 a0014c0014 a0018c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0017t0001 a0001c0022t0001 a0002c0004t0001 a0002c0013t0001 a0007c0010t0001 a0011c0012t0001 a0014c0014t0001 a0018c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0001 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0003t0001g0013 a0001c0009t0001g0030 a0001c0017t0001g0001 a0001c0022t0001g0001 a0002c0004t0001g0037 a0002c0013t0001g0036 a0007c0010t0001g0003 a0011c0012t0001g0080 a0014c0014t0001g0064 a0018c0023t0001g0040	181	409	0.4425	1	c.204 others(5): Show c.2040dupC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071600	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG03130.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18941.hp1 NA18943.hp1 NA18959.hp2 NA18975.hp2 NA18977.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0009t0001 a0001c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0002g0001 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0009t0001g0030 a0001c0017t0001g0001	47	408	0.1152	1	c.210 others(5): Show c.2106dupC	p.Val others(5): Show p.Val703fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2129/2381	2107/2262	703/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPV_chr17_16337537_16358469	16353140	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG02055.hp1 HG02559.hp2 NA18967.hp1 others(4): Show HG02055.hp1 HG02559.hp2 NA18967.hp1 NA19030.hp1 NA19067.hp2 NA19081.hp1 NA19081.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0004 a0003c0003 a0006c0004	a0003c0003t0001 a0006c0004t0001 a0003c0003t0001 a0006c0004t0001	a0003c0003t0001g0014 a0003c0003t0001g0069 a0003c0003t0001g0070 others(1): Show a0003c0003t0001g0014 a0003c0003t0001g0069 a0003c0003t0001g0070 a0006c0004t0001g0033	7	354	0.0198	1	c.296 others(4): Show c.296dupC	p.Thr others(5): Show p.Thr100fs	CENPV	ENSG00000166582.11	transcript	ENST00000299736.5	protein_coding	1/5	329/1132	296/819	99/272		chr17	TogoVar
CFAP157_chr9_127701988_127721002	127713110	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG00741.hp2 HG01978.hp1 others(3): Show HG00735.hp1 HG00741.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG03669.hp1	a0005 a0005	a0005c0008 a0005c0012 a0005c0008 a0005c0012	a0005c0008t0002 a0005c0012t0001 a0005c0008t0002 a0005c0012t0001	a0005c0008t0002g0001 a0005c0008t0002g0010 a0005c0012t0001g0005 others(1): Show a0005c0008t0002g0001 a0005c0008t0002g0010 a0005c0012t0001g0005 a0005c0012t0001g0011	6	352	0.0170	1	c.139 others(5): Show c.1397dupC	p.Arg others(5): Show p.Arg467fs	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding	8/9	1442/3704	1398/1563	466/520	INFO_REALIGN_3_PRIME	chr9	TogoVar
CGB1_chr19_49030569_49041895	49035611	T T	G G	stop_lost stop_lost	HIGH	HG01243.hp1 HG01433.hp1 HG01884.hp1 others(15): Show HG01243.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03516.hp1 HG06807.hp2 NA19002.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0005c0008 a0010c0011	a0001c0001t0010 a0001c0004t0004 a0002c0003t0004 others(3): Show a0001c0001t0010 a0001c0004t0004 a0002c0003t0004 a0002c0003t0006 a0005c0008t0004 a0010c0011t0004	a0001c0001t0010g0035 a0001c0004t0004g0009 a0002c0003t0004g0015 others(3): Show a0001c0001t0010g0035 a0001c0004t0004g0009 a0002c0003t0004g0015 a0002c0003t0006g0008 a0005c0008t0004g0018 a0010c0011t0004g0033	18	374	0.0481	0	c.467 others(3): Show c.467A>C	p.Ter others(11): Show p.Ter156Serext*?	CGB1	ENSG00000267631.5	transcript	ENST00000301407.8	protein_coding	3/3	651/693	467/468	156/155		chr19	TogoVar
CHRM1_chr11_62903679_62926363	62910396	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00639.hp2 HG01099.hp2 HG01106.hp2 others(12): Show HG00639.hp2 HG01099.hp2 HG01106.hp2 HG02055.hp2 HG03710.hp2 HG03831.hp1 NA18950.hp2 NA18993.hp1 NA19009.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19072.hp1 NA19072.hp2 NA19082.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0001 a0002c0004t0003 a0002c0007t0001 a0002c0004t0001 a0002c0004t0003 a0002c0007t0001	a0002c0004t0001g0058 a0002c0004t0001g0064 a0002c0004t0001g0088 others(12): Show a0002c0004t0001g0058 a0002c0004t0001g0064 a0002c0004t0001g0088 a0002c0004t0001g0092 a0002c0004t0001g0101 a0002c0004t0001g0111 a0002c0004t0001g0114 a0002c0004t0001g0119 a0002c0004t0001g0126 a0002c0004t0001g0134 a0002c0004t0001g0136 a0002c0004t0001g0147 a0002c0004t0003g0051 a0002c0007t0001g0130 a0002c0007t0001g0131	15	418	0.0359	1	c.704 others(4): Show c.704dupG	p.Gly others(5): Show p.Gly236fs	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding	2/2	928/2646	704/1383	235/460		chr11	TogoVar
CNDP2_chr18_74491363_74528454	74518940	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0003c0004 a0004c0018 a0005c0011 a0006c0019 a0007c0012 a0009c0010 a0010c0013 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0049 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0003t0048 a0001c0005t0002 a0001c0009t0001 a0001c0016t0009 a0001c0017t0002 a0001c0020t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0022 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0006t0002 a0002c0007t0002 a0002c0008t0001 a0003c0004t0009 a0004c0018t0001 a0005c0011t0002 a0006c0019t0001 a0007c0012t0007 a0009c0010t0001 a0010c0013t0002 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0007g0076 a0001c0001t0008g0174 a0001c0001t0008g0236 a0001c0001t0008g0238 a0001c0001t0008g0246 a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0008g0259 a0001c0001t0009g0074 a0001c0001t0009g0168 a0001c0001t0011g0224 a0001c0001t0013g0002 a0001c0001t0013g0049 a0001c0001t0013g0207 a0001c0001t0013g0211 a0001c0001t0014g0001 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0285 a0001c0001t0015g0244 a0001c0001t0015g0245 a0001c0001t0017g0186 a0001c0001t0017g0273 a0001c0001t0018g0251 a0001c0001t0019g0052 a0001c0001t0019g0201 a0001c0001t0020g0050 a0001c0001t0025g0007 a0001c0001t0026g0002 a0001c0001t0027g0016 a0001c0001t0028g0160 a0001c0001t0029g0157 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0034g0185 a0001c0001t0035g0284 a0001c0001t0036g0001 a0001c0001t0046g0077 a0001c0001t0049g0015 a0001c0003t0002g0037 a0001c0003t0002g0116 a0001c0003t0002g0122 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0007g0045 a0001c0003t0007g0123 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0009g0061 a0001c0003t0021g0036 a0001c0003t0023g0037 a0001c0003t0048g0152 a0001c0005t0002g0047 a0001c0005t0002g0069 a0001c0009t0001g0007 a0001c0016t0009g0072 a0001c0017t0002g0073 a0001c0020t0031g0189 a0002c0002t0001g0167 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0281 a0002c0002t0007g0119 a0002c0002t0007g0121 a0002c0002t0010g0003 a0002c0002t0022g0005 a0002c0002t0022g0127 a0002c0002t0041g0032 a0002c0002t0043g0033 a0002c0002t0044g0083 a0002c0002t0045g0137 a0002c0002t0047g0101 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0007t0002g0100 a0002c0007t0002g0136 a0002c0008t0001g0056 a0003c0004t0009g0079 a0004c0018t0001g0004 a0005c0011t0002g0003 a0006c0019t0001g0001 a0007c0012t0007g0045 a0009c0010t0001g0227 a0010c0013t0002g0124 a0011c0014t0001g0184	354	422	0.8389	1	c.121 others(7): Show c.1211-3dupC		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
CNKSR1_chr1_26172491_26194884	26185173	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00738.hp2 HG01109.hp1 others(10): Show HG00438.hp1 HG00738.hp2 HG01109.hp1 HG02055.hp2 HG02080.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 NA18906.hp2 NA18956.hp1 NA18985.hp2 NA19083.hp2	a0004 a0016 a0019 a0004 a0016 a0019	a0004c0005 a0004c0017 a0016c0015 others(1): Show a0004c0005 a0004c0017 a0016c0015 a0019c0014	a0004c0005t0001 a0004c0005t0002 a0004c0017t0001 others(2): Show a0004c0005t0001 a0004c0005t0002 a0004c0017t0001 a0016c0015t0001 a0019c0014t0001	a0004c0005t0001g0001 a0004c0005t0001g0002 a0004c0005t0001g0004 others(9): Show a0004c0005t0001g0001 a0004c0005t0001g0002 a0004c0005t0001g0004 a0004c0005t0001g0007 a0004c0005t0001g0034 a0004c0005t0001g0054 a0004c0005t0001g0074 a0004c0005t0002g0011 a0004c0005t0002g0102 a0004c0017t0001g0069 a0016c0015t0001g0001 a0019c0014t0001g0001	13	370	0.0351	1	c.129 others(5): Show c.1297dupC	p.Arg others(5): Show p.Arg433fs	CNKSR1	ENSG00000142675.18	transcript	ENST00000361530.11	protein_coding	14/21	1355/2535	1298/2142	433/713	INFO_REALIGN_3_PRIME	chr1	TogoVar
COG6_chr13_39650662_39757628	39679963	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0010 a0001c0001t0003g0024 a0001c0001t0003g0129 a0001c0001t0003g0188 a0001c0001t0003g0202 a0001c0001t0004g0096 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0208 a0001c0001t0012g0182 a0001c0001t0013g0134 a0001c0001t0014g0168 a0001c0001t0015g0201 a0002c0002t0005g0216 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0006g0341 a0002c0002t0007g0325 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0176	134	368	0.3641	1	c.624 others(6): Show c.624-3dupT		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	6/18				INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A2_chr21_46093112_46134801	46125455	A A	AC AC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0001c0014 a0001c0019 a0001c0025 a0001c0031 a0002c0003 a0003c0004 a0003c0007 a0003c0017 a0003c0041 a0008c0042	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(17): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0005t0001 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0025t0002 a0001c0031t0002 a0002c0003t0003 a0003c0004t0001 a0003c0004t0002 a0003c0007t0002 a0003c0017t0002 a0003c0041t0002 a0008c0042t0002	a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 others(80): Show a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 a0001c0001t0001g0301 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0005g0289 a0001c0002t0009g0022 a0001c0002t0009g0253 a0001c0002t0009g0259 a0001c0002t0009g0262 a0001c0002t0009g0330 a0001c0002t0009g0334 a0001c0002t0010g0125 a0001c0002t0010g0291 a0001c0002t0010g0292 a0001c0002t0010g0321 a0001c0002t0012g0285 a0001c0002t0013g0288 a0001c0005t0001g0154 a0001c0013t0002g0001 a0001c0013t0002g0272 a0001c0014t0002g0007 a0001c0014t0002g0319 a0001c0019t0002g0020 a0001c0025t0002g0279 a0001c0031t0002g0296 a0002c0003t0003g0227 a0003c0004t0001g0309 a0003c0004t0002g0046 a0003c0004t0002g0257 a0003c0004t0002g0311 a0003c0004t0002g0324 a0003c0007t0002g0026 a0003c0017t0002g0307 a0003c0017t0002g0310 a0003c0041t0002g0258 a0008c0042t0002g0284	100	367	0.2725	1	c.181 others(7): Show c.1817-3dupC		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	24/27				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46125455	A A	AC AC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0024 a0001c0033 a0001c0042 a0001c0043 a0001c0050 a0002c0003 a0003c0010 a0003c0016 a0003c0063 a0005c0017 a0005c0065 a0011c0066	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(21): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0001c0024t0002 a0001c0033t0002 a0001c0042t0002 a0001c0043t0002 a0001c0050t0002 a0002c0003t0001 a0003c0010t0001 a0003c0010t0002 a0003c0016t0002 a0003c0063t0001 a0005c0017t0002 a0005c0065t0002 a0011c0066t0002	a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 others(80): Show a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0021 a0001c0002t0002g0124 a0001c0002t0002g0251 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0285 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0327 a0001c0002t0008g0019 a0001c0002t0009g0328 a0001c0002t0012g0020 a0001c0002t0013g0313 a0001c0002t0014g0326 a0001c0004t0001g0155 a0001c0006t0001g0302 a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 a0001c0009t0001g0261 a0001c0009t0001g0329 a0001c0009t0001g0333 a0001c0024t0002g0005 a0001c0024t0002g0318 a0001c0033t0002g0020 a0001c0042t0002g0294 a0001c0043t0002g0284 a0001c0050t0002g0297 a0002c0003t0001g0225 a0003c0010t0001g0309 a0003c0010t0002g0323 a0003c0016t0002g0026 a0003c0063t0001g0047 a0005c0017t0002g0256 a0005c0017t0002g0257 a0005c0017t0002g0311 a0005c0065t0002g0310 a0011c0066t0002g0282	97	359	0.2702	1	c.181 others(7): Show c.1817-3dupC		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	24/27				INFO_REALIGN_3_PRIME	chr21	TogoVar
CR1_chr1_207491157_207646765	207542737	CACATGTG others(18550): Show CACATGTGCTGAAATTGAGAAGCAAAGCTCAACCTGGGCAAGGGATATGA TGTTTCTTTGGGGTTCTTATAAACAGATCTATCAATTACCTTTGAGTATA ATAATGTTTGATACAAAATGAGTGATTCCTCTGCCCAGGCACTATAATAC AGGCTACATGTGAATTTTAATCCTGAAAACAAAGTTATTAGGTAGTTCCC AGTTGTTCTATGTTTGTCTGTTTTGTTTTGCTTGAGATACTGTCTTGATC TGTCACTCAGGTTGGACTGCAGTGGTGCCATCATGGCATACTTCACCCTC CACCTCCCTGACTCAAGCAAGTCTCCTGCCTGAGCCTCCCAAGTAGCTGG GAATGTAGGTGCATGCCACCATGCCTGGCTAAGTTTTTTATATTTTTTTT GTAGGGACAGAGTCTCACCATGCTGCCCAGGCTGGTCTCAAACTCCTCAG CTCAAGCACCCACCCACCTTGGGCTCCCAAAGTGCTGGGATTATAGGCAT GAGCCACTGTGCCCGGCCTCTATGTTTTACAGAGAATATGTGCCTTAGAC ACATCAGATAACATTCTGAGACAGTAACTTGCAGACAAAACTGGATTGCA AGTCCACCTCACTCCAGAGCCTTGGCTTTGCTCATCAGCATTCAGTCATG AAATCAAAACTTACTCTAGATACTTTCAAGGAGGGAGGGATTTCATGCAG GTTGTATTAGTCTGTTCTCACATTCCTATAAAAAACTACTTGAGCCTGGG TAATTTATAAAGAAAAGATGTTTAATTGACTCAGAGTTCTGTAGGCTGTA CAGGAGGCATGGCTGGGAAAGTTACAATCATGGTGGAAGGCAAAGAGGAA GCACGCATATCTTCATATGCTTGGCAGGAGAGAGAGAGAGAGCAAGGCAG AGGTGTTACAGACTTTGAAACAAGCAGATCTTGACAGAACTCTATCACAA GACAGCACTAGGGTGATGGTGCTCAACCATTAGAAACCACCTCCATGATC CAGTCACCTCCCACCAGGCTCCTTCTCCAACACTGGGAATTACCATTTGA CATGAGATTTGGGAGGGGACATAGAGCCAAACCATATCGCAGCTAATAGG TCACAAAAATGTTAGAAGGGCAGGAAAAGCAATAGGACAAAGGCAAAGTT ACGAGAGATCAGGGAGCTGCTGTGGCTCCCAGTCTACAGCACAGGAGCCT GGAGTGATGGTGAAATGGCCAGCCCCTCCCACTGAGCAGGCAGCTCCCTG TAAGCTGCTAATACTGCAGGAGCCACCATTGCTGCCAGAATGCAGCTGAT ATTGCTGGAGCCAAAGTCATTGGCATCGTTACAATTGAAGCTGTAGCTAC TCACTGAAGCCATCTATACTGCCACTGCCTGAGCCACTTCTAGAAGTAGA ACAGATTCTGCCATCATCCTGCTTTTTAATTTGGTATATATGCCTCCAAT TGGCAGAACCTAACCAGAGCCTAGCTATCAAGGAAGATGAACGATTTATT TTTAAGGCCTCCATTGTTAGCTGTCAAAAGACAGTGCAGAAATGTGAGGC TGGGGGCCAACAGAAATTTAACCAGCACAGCACCTCAATATTACATCACC AGGCATTGATTAGTCCAGGGAAACACTGGGTGATGAGCCCTGAAAATGGA CATTACAGCATCAGAGTATTTACAAACTCCTTAAAGAAGTCATTTTTCTA TTCCAATCCCCCATTTGATGCTTGAGAAAGCTGAAGTCCAGAAAAGGGAA CTGATCTGCTCAAAGACAAACTGAAATTACTTTTTCCATTTTATAACAGT TTTATGTAATTTATTTGAGATCCAAATGTGTTTTGATTTCCCAAGATCAG ATCAACTACATTAAGAGAGAGCCTGAGATGCCGTTACAATATGTTGTGTG AAATTACACTCTCATTATGGTGACAGTAGGTCTTTCAGATTTTGTTCGAC AGTTTCCCACCTTCTCACTGAAGTGAAATGAATGACTAGGCAGCACCTTG CTACATAGCATGAAGAGAGGAGACCCATAGTTCTTTACCACCCTATGTCA GGTGGCCGCTGAGAGAAGACTTGAAAGGAGATGAGCATAGATGTATGGAC GCTCTTTGTTGCACCAGTGTGATAGGTGATGGAGGGACCTATTAGATGGG ACATGGGCAGGGGCACTCCTTTATTGCTTAAAATGCAAGACTAAATTGGT GATGCCTTTCTAGAAAGGAAGTATGAAGATACAAAAATCCATCATTCCTC CCAATTTTGTACTGGGTGAACAGTAATTGGAAGCATTCTAGAAGGAACTG TCCATTGTGAAATCTTAGTTGCATACTTTAGATGAAAAACAATGAATTGG AGATACCTCTGTTTTAGTCACAGTTGTGCCATGTGTCAGTTCTATGACTG ATGGCAAGACATCTTCCTTGCCCCGTGTATTTAGTTTATCAATGTAATAA GGCTGTTATTCTAACTTTATTATTATATATAGATTCGTAATTATTATTCC CTTGGCCAGTTTAACAGTGAGAAAAAAGTTGTTTTCACACAATTAGCTGT ACTTTGTTTCTCTCTCCCCAGTATGTCAGCCACCTCCAGATGTCCTGCAT GCTGAGCGTACCCAAAGGGACAAGGACAACTTTTCACCCGGGCAGGAAGT GTTCTACAGCTGTGAGCCCGGCTACGACCTCAGAGGGGCTGCGTCTATGC GCTGCACACCCCAGGGAGACTGGAGCCCTGCAGCCCCCACATGTGAAGGT GACTAGACTCTTATCTGGCTTGATATTTTTAGCTTGCGTCTTTATTCTCC ACATGCCAGTGATTTCTGTTCGTTTTTCTTTATCTCCAGTGAAATCCTGT GATGACTTCATGGGCCAACTTCTTAATGGCCGTGTGCTATTTCCAGTAAA TCTCCAGCTTGGAGCAAAAGTGGATTTTGTTTGTGATGAAGGGTGAGTAT GAGCTTGCCTGACCTGCTGGACATTGAAATTGGGGTTGGGAATCAGTCTA AAAAGGGGAGATTTGGTGTGGCACACACACACACACCTTCAGAGAGATGA ACTTTCGAAAGTATACCTAGGAAGAAAGGAAAGAAACATATAGAACTAAT AACATGAGATATGAAGAGGAAACTGGAACATATATTAACTGGCAAGTTCA AAGGCAAGTATAACTACTGGTTATGAATATATAAGTAACACATTAAGCAA AAAATATCAGCCAGAAACGGTGGCTCACCCCTGTAATCCTAGCACCTTTG GGAGGTTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCCT GGACAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAGTTAGCTGG GTGTGGTGGCATGTGCCTGTAATCCCAGCTATTCCGGAGGCTGAGGCACC AGAATCACTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCCGAGATGGCAC CATTGCACTCCAGCGTGGACAATAAGAGTGAAACTCCATCTCAGGAAAAA AAATCATATTTTACAAGCAAAAAGGAATATGAGTAATTTAGAGAGTCCCA GGAAAAAACTGGAAGTAACAAAAGCTTATTATAAAAAGCTAGGATCATTT GTGAATCATTTCAGTAAATTCTTTAAATCGTCAACAGTGAAATTTGTAAT AGGACTGAAAATGTAAAAATCAGCATTTTTTAAAAAAATCCAGCCATATA TCATCTGGTTAATCATGGGCTCTGGGCTCTGAGCTGGGGTCCTGATGGCT GCTGTTAATATTTCCAGCAAGCTCATTACCTTGTTTATGTCCACCTAGTG CTCTTCGCAGGGTGCACATCTCTACACGGGAGCTGACCGGCATGGGCAAC AAAGCACCTGATCCCAAAATGTAACACAGAATCTTGGCAGCCTCCAAATG CCAGCACCCAGTAAGAGTTAGGAGGGCATCGGGGTCCAGCAGACATTGAG AATTTTCGACAATTGCATGCAAAAAATAAGTCCTCTCTTCTTTCCTTTTT CCCCTAGAATATTCATGCTTACTCTTCAGCAGCCCAAATTGCCCTTTTGA GCCTTCTTCACGCCATCACAGATGTGGAGATGAAAGGACAGTCTGTTCTC TCGCCAGCTATTTCCCACTTTTCCACTCCAAACTGGGAGCTGTTTTACTT GCTGTTCCAGGGTCAGAGTTAGGAAGGCATTACATTAGAAGACTGGGTTT CTAATAACAACAATGAGTGATTTATCAGGTTATCATGGAGTAATCAGTGA AACTCCAAGCCTGGGTCCTGGGTCAAGGGGATGGCGCCTATGTCATGACC ACCTTTTTCAGTTCAAGCAGGACTATCATGTGACCAAGCTACTGCATTTT GCCATTCTATATTGTTCCCTTCTGGAGGCTGTGATTTTTCCAGAATAAGG TAGCCTGTGCAACTCTGCCACCTGCTGGCCTAAGGTCCTAATAATCCTGA AATTGGGGCTGGGCCTTAGATTGTGAACTAAGGGTTCTCTTGGCTGAAAC AGCTCACACTATTCACTCCTATTTTCTTCTTTAGATTTCAATTAAAAGGC AGCTCTGCTAGTTACTGTGTCTTGGCTGGAATGGAAAGCCTTTGGAATAG CAGTGTTCCAGTGTGTGAACGTGAGTAGCAGGAGTAACATTTCAGGCCAG TCTCTCCCTTCATCTGTTCAGTATTTGACCCATGACCTCCCCTAATGTGG TTCTTCAATTTTCTAGTTTGAATTATTGATTTGAAAATTGCTTATTTTAA TAATGTTTGGTTGTGAATCAAATGTATACATCACCTGTCTTTGGAACCAT CTGATCTGTCTCTGTCCTTCTGTATTCTGTGTTCTAGTGCGATAAATCCT ATGGTAGCATGATTCTAGGTCAGGAGAGATTAGATAATGTGAAGCCTTAA CAATTTGCTTTCTTTCTCTCTTTCTTTTGTTTCTTTTTTCTCTTCCTTCC TTTCTTCAGTTCTTTCTTCCCTTCTCTTTCTCTCCCCTTTCTTCCTTCCT TCCTCCTTCTTTCTTTTCCATTTTGTTCTTCCATCAGGTGCAGTCTACAA TTTTTGTATATATTTGATAATACACAAATATTAAACATGCCTTTATTTAA TCAATATTTATTGATCACATACTTTGTGCCTGATGTTCATCTAGCCACAG GAGTTATATCAGTGAACAAGATGAATGAATTCCCTGTCCCCATGTTGTTT CCACTCAGTTGGGGAAAGGGACAAGAAAAAAAATAAATACGATGCTATGA AGATAGTAGAGCAAAGCATTTAGGCATGAGGGAAAAGTGAGGAGCAACAT TAGACAAGGCGAGCAGTTTGAGACTCCTTAAATTCTCAAAACATGTACCT AAATAATTTATGCTGAGAGATTCATAAATAATGTCATTTTTAAAAATTTA TTATACTTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTAC ATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATT TACATTAGGTATATCTCCTAATGCTATCCCTCCCCGCTTCCCCCACCCCA CAACAGGCCCCGGTGTGTGATGTTCCCCTTTTTGTGTCCAAGTGTTCTCA CTGTTCAATTCCCACCTATGAGTGAGAACATGTGGTGTTTGGTTTTTTGT CCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCC TAAAAAGGACATGAACTCATCAATTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGATGGACATTTG GGTTGGTTCCAAGTCTTTGCTATTGTGAATAATGCAGCAATAAACATATG TGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATAC CCAGTAATGGGATCGCTGGGTCAAATGGTATTTCTAGTTCTAGATCTTTG AGGAATCACCACACTGTCTTCCACAATGGTTGAACTAGGTTACAGTCCCA CCAACAGTGTAAAAATGTTCCTATTTCTCCACATCTTCTCCAGCACCTGT TGTTTCCTGACTTTTTAATGATAGCCATTCTAACTGGTGTGAGATGGTAT CTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCA TTTTTTCATGTGTCTGTTAGCTGCATAAATGTCTTCTTTTGAGAAGTGTC TGTTCATATCCTTCACCCACTTTTTGATGGGGTTGTTTTTTTCTTTTAAA TTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAG TAGATTGCAAAAATGTTCTCCCATTCTGTAGGTTGTCTGTTCACTCTGAT GGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTATATCCCCTT TGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAG TCCTTGCCCATGCCTGTGTCCTGAATGGTATTGCCTATGTTTTCTTCTAG GATTTTTATGGTTTTAGGTCTAACATTTATGTCTTTAATCCATCTTGAAT TAATTTTTGTATACAGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACAT ATGGCTAGCCAGTTTTCCCAGTACCATTTATTAAATAGGGAATCCTTTCC CCATTTCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATGGTTGTAGATGT GTAGTATTATTTCTGAGGGCTCTGTTCTGTTGCATTGGTCTATATCTCTG TTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAG TTTGAAGTCAGGTAGTTTGATGCCTCCAGTTTGTTCTTTTGGCTTAGGAT AGACTTGGCAATGCAGGCTTTTTAAATAATGTCATTTTTAAAAAATGAGC CCCATATGTTCAATAATGAGTAGACTACTGATTTCTCCTAGTCTCCCCAT TTATAATTTCCCCAATAGAAGATAGAACTTTGCTTCATTTCTTGATTCTA ATGATTGGGAAATGTGTTTCTTTAGAAAACCATGAAATTTTACTAAAATG TTTATGTTGTTAGAAATGGACATCTTACAGTGCTTTTTAGAGTAAAATTT TGGAAGAACATAACTTATATAGAGATTCTTGCTGTCTAAGAAATTCAGTG CTCCTTGAAGCAGCATGACAAATTTCTGTTCTACCATCATGAATGAAAGC TCATTGATTGGACTACTCAAGCTTTCTCTTATTTTTCATAACTGTTGCTA GTTAAAGTAGCTTCTTCCAAATTCCAGTTCTAATGAAAAATGCCAATTAG AAATGAGGAAGAAACTGTTCTAAACAAATCAGCAGATGCTAGAAAGGAGA AACAACTTGAAACCTGACCCAGAAAGTTAAAAGAGAAAATAAATCATCAA CAGACCTAGACATTTTCAAAAGCAAAGCCATCTGAATCCATTTGGAGTTG TTTTTTATCATGGCCTTACTATGTTTTAATTCACTGTGACAGGGCTATTG TTATCACTGAGATTGATGATCAATATCAAGAAGTAATCAGCGAAAGGTTT CACCTATTTAAGATGATTAGCACACATATGTACATTTGAGAAATATTTCC TAAGAATGCAGGCTCCTTCCTCAGCACTCTGTCCCCAGGATCCTGATGAG TGGCTGACACAGGACAAGTGCTTAATTAATATATATTGACTAAATGAATG AGCAACCCTTCAAAATGGCTATTTTTCTTTTTCAAATGTTTTGCTACTTC ATTAAAGTTGTAAAGTTTCCATTGTCCAGGAACCGTTACTATCCGGAAGA TTCAGGATAGACAAGTCTCTTTTGTACTTTGCAATACACTTTCATTGATA TCTCATTTAATCCAACTCTTCAAAGTCCTAATGTCTACTGTCATCTCCTT AGCATATTTTCAGCAACACCAATCATAGCACCCTGTAATTGCAGAATACC TCTGGTGAAACTCCTGAATGAAACTTAGAGCTTTCATGTTTTTTCTAGAA ATCTTTTGTCCAAGTCCTCCAGTTATTCCTAATGGGAGACACACAGGAAA ACCTCTGGAAGTCTTTCCCTTTGGGAAAACAGTAAATTACACATGCGACC CCCACCCAGACAGAGGGACGAGCTTCGACCTCATTGGAGAGAGCACCATC CGCTGCACAAGTGACCCTCAAGGGAATGGGGTTTGGAGCAGCCCTGCCCC TCGCTGTGGAATTCTGGGTTAGTGCTCATTTCCCCACATCCCAAATGGGT TCAGAATATCTAACCCAGGCCCTCCATATTTCCGTAATTACAATGTGGTA TTTATTTGTGCATTTGCCACAATGGAATGCCAAACCAATGATAGATGGTT CTAAGGTAGGTCAACACATAAGATCCTGATGACCTTTGCAGATGGAGGGA CTGATGAAAAAAGAGGGAGGCGGTGAGTGGTGGGAAAGTCCTTCATTAGA ATCATATGAATTAAAAACAGATGCCTGTGAATCTCCTTATTGAAATGTTT GGTTTAGAAATCTGACCTAGAAAATCGGTGGCTCCTTCTGCCAGGAAACG TCTTGAGTTCCCGCCCATGCTTGACAGCCTCTCATTGGAGTTTTGATGAC TTGAAGTACAAGGAAACCAGACAGGAAAGGTGGAACCTGGGCAGAAAAAC TCTTTCTGGCTTCCTAAAAATGTGAAAAATTAAATGGGAGCTATCTTTAC ATTAAATTATATGAGCATTAGCTGAGCGTGGTGGCAATTGCCTGTGGTCC CAGCTACTCGAGAGGCTGAGATGGGAGTATCCCTTAAGCCTGGGAGGCAG AGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACCCTATCTCAAAAACAATAAAAATAGGCATTAGGAGGCCAAGG CTGGTGGATCACTAGAGGTCAGGAGTTCCAGACCAGCCCGCAAACACAGT GAAACTCCAACTCTACTAAAAATAGAAAAAAAATTTAAAAACAAAAATAA ATTATATGAGTAGAAAGACCAGATAGCAGGCTAGTCTTCCAAATAATATA CTTCCTTATAAGCCTATGCTAATGGAACTTTCCTTTCTATTTTACAGGGA AGTTTTTTTTTTTTCATAACTAAAATTTTCTTTTCTTCTGGCATCAAATC TACCAAGGAAGAGAAAAGAGGAAACACACTGGGTATCTTTTTATTAACTC AAATATTCTTGATTTCTTGGTCTCTAGGTCACTGTCAAGCCCCAGATCAT TTTCTGTTTGCCAAGTTGAAAACCCAAACCAATGCATCTGACTTTCCCAT TGGGACATCTTTAAAGTACGAATGCCGTCCTGAGTACTACGGGAGGCCAT TCTCTATCACATGTCTAGATAACCTGGTCTGGTCAAGTCCCAAAGATGTC TGTAAACGTGCGTAAACTTGCGTTGGATCTTTCCCATGTCTGCAAAAGCT TCTTATGGAATTATTTCAAATGTGGGATATGAGAAACCTTTTCTGAAAAG TGTTCGGATAGATGGATGTAAGAGTTTTTCTTGTAGGCATCCTTGATTGT TGCTTGAAATGTTAACTTCATGAGAATGTTTCAAGAAATAGTTGTAGAGA AAATCTTCATTCCCTATGGGAAAGAAAATAATAAATGACTAGATCAGGAA AAAAATGGTGTAGGAAGACAAATTCTGTTTGAATAACTAGGTGGGAAGAA ATCCTTTGCAAACTTTGAAATATATTGATAGTAAATAATGCCATAAATGA CCTTTACATTTTGATAAGGGATGCAAGGTCTCTACACAGATCTAAATCTA GATCTAGATAGATCTGGAGGGAAGGTCTTTTTGAAAGTGGGGCTTAGTAG GTGGCTGATCCTCAGCGCTCTGATGAGTTTTCTCAAGGTGCCAAAATCTG TGGAACCATCAGAACCGCGTGTTTTCTTCAGGAAGCTACATGCAGGTTGA GACCTTACGTACTGAAGAGAGTTCAGATTACTCTACCTGGCTCCAAAACA TTTTCTTTCCCACAGGTAAATCATGTAAAACTCCTCCAGATCCAGTGAAT GGCATGGTGCATGTGATCACAGACATCCAGGTTGGATCCAGAATCAACTA TTCTTGTACTACAGGGTGAGTTGGCAGCAACATCTCTTGGTTTAAGAGTT CCAGCACAGCGATAGTACTTTCTAGCCACATCTCAGCAAGGAAACTAGGC TATTGCCACCTGCTCTTAAGAGGCTTGAACACAGGTGTTAACTCCTGATT GAAATGAACAAAGATAGGAGAAGATTAGGGGGAAAATCTGTATCCTTGCT GGAAACCAGGGCAGTGCACATATAAAGAGTATGCTGTTCACTGGATGGGA AAGAAAAAAAATTAGAAGTGTAGTAGTCAAAGCACACAAACAACCCTAAC CCAGAGTAGACATTGCTGGAAGAAAGGGAAGACCATGTAGCAGCTGTGTG AGAGAATGAATCTTAATGATAACAGCATGATCCCTTGCTAGGGCTGCCAT CAAAAAGTACAGGCCTTCCTCGTTTTATTGTACTTCGCAGATGTTATGCT TTTTACAAATTGAACGCTTGTGGGAACGCTGTGTAAGCATGTTCGTCGGC ATCATTTATCCAACAGCGTGTGTTGACTTCGTGTCTCTGTGTAGCATTTT GATTATTCTCACAGTATCCCAGATGTTTTCATTATTATCATGTCTGTGAT AGTGATCTGTCATCAGTGATCTTTGATGTTACTATTGTCATTGTTTGGGG TCCCTACGAACTGCACCCATATAAGACAGAAAACTTAATCAATAAATGTG CGTGCTTTGACTGCTCCATGGACTAGACATTCCCCTTCTGTCTCCCTCTC TTCAGGACTCCCTAATCCCTGAGACACAATAATACTAAAATGACTCCAAT TAATAACCCTACAATAGCCTTTAAGTGTTGACATGAAGGGAAGAGTCATG CATCTCTTACTTTAAATCAAAAGCTAGAGATGATTAAGCTTACTGAGGAA GATACGTTGAAAACCAAGATAGGCCAAAAGCCATTCCTCATGTGCCAAAC AGCTAGAAAGTTGTAAAGGCAAAGTAAAAATACTTGAAGGAAATTTAAAA TGCTCTTCCAGTGAACACATGTATGATAAGAAGGTAAAACAGCCTTATTG CTGATATGGAAGAAGTTTTAGTGGTCTAGATATAAGATCAAACTAGAAAC ATTTCCTGAAGCCAAAGCGTAATCCTGAGCAAGGCCGTAACTCTCTTCAA TTCTGTGAAGGCTGACAGAAGCTGGAAGCTAGCAGAATTTGGTTCCTGAG GTTTAAGGAAAGAAGCCCTCTCCATAACATAAAGGTCCAAGGTGAAGCAG CCAGTGCTCATATAGAAGTTGCAGCAAGTTATCTAGAAAATCTAGCTAAG ATCACTGACGAAGGTGTTACACTAAATAACAGATTTTCCATGTAGACAAA ACAGCCATCTATTGGACTTTCATAGCTAGAGAGGAGAAGCCAATACCTGG GTTCAAAGCTTCAAAGAACAGGCTGACTTTTTAGGAGCTAATGCCGCTGG TGACTTTGAGTTGAAGCCAATGTTCACCGACCATTCTAAAAATCCTAGGG CCCTTAAGCATTAAGTTAAATATACCTTGCCTGTGTCTATAAATGGAAGA ACAAAGCCTGATGACAGAGGTATGTTTGCGGCATAGTTTACTGAATATTT TAAGCCCACTGTTGAGATCTAGTGCTCAGAAAAACAGATTCCTTTCAAAA TATTACTGCTCATTGACATTGCACCTAAGCAGCCAAGAGCTCTAATGGAG ATGGACATGGAGATGAATGGAGTTTTCCTGCCTGCTAACAACGGCAGCCA TTCTGCAGCCCATGGCTGAAGGAGTAATTTTGACTTTCAAGTTTCACTAT TTAAGAAATACATTTTGTAAGGTGAGTCCCCACAGACAGTAATTCCTCTG ATGGATCTGAACAAAATAAGTTGAAAACTGCTGGAAAGAATTCATCATTC TACATACCATTAAGAACATTCGTGATTCATGGGAAGAGCTTAAAATATCA ACATTAATAGGAGTTTGGTAGAAGTTAATTCCAACCCTCATGGCTGACTT TGAGAGGTTCAAGACTTCAGCGGAGGAAATAACTGAAGATGTGGTGAAAA TCGCAAGAGAACTACAATTAGAAGTGGAGCCTGAAGACGTGACTGAATTG CGACAAATTCATGATCAAACTTGAACAGATGAGGAGTTGCTTCTCATGAA TCAGCAGAGAAAGTGGTTTTTTTGAGGTGGAGTGTCTTCCTGGTGATGAT GACATGAGCATTGTGAAAATGACCACAAAGGATACAGAATATTACAAAAA CTTAGGTGATAAAGCAGCAGCAGTATCGGGAGGATTAACTCCAATTTTGA AAGCAGTTCAGAGGGTAAAATGTTATCAAACAGCATTGCATGCTAGAAAA ATCTTTTGTGAAAGGAAGAGTCCATCAATACAGCAATTTTATTGCTGTCT CAGCTTAAGAAATTGCCACAGCCACCCCAGCCTTCAGCAACCACCACCCT GATCAGTCAGCAGCCATCAACCTTGAGGCAAGACCCTCCACCAACAAAAA GATTACAAATTATTGAAGGTCAGATAATCTTTAGTATTTTCTTATCAATA AACCTTTTTTTAAAGTATGACTTTGTTTAGACATAATGCTATTTCACACT TAATAGACTACCGTATAGTATAAACACAACTTTTAGACTCACTGAGAAAT CAAAAAATTCATCTGACTCATTTGTTGTGATATGTGTTTTATTGTGGTGG TCTGGAACTGAACCTGCAATATATTTGAGGAATGTCTGTAACACGAAGTG GGCGGCTTAATACAACAGAAGTTTTTGGAGTTCCATTCTAGAGACTGGAA ATCCAAAATCAAGGTTTTGGGAGGGCCACGCTCCCTCTGAATCCTGTAGG GAAGGATCCTTCATTGCATCTTCCAGCTTCTGGAGCCACAGGCCTTCCTT GGCATGTGGCAGCAGAACTCCAATTTCTGTCTCTGTCCTCATATGGCCAT CTTCCCTCTGGGTCTGTGTCCTCATATGCTGTTCTCTCTGTGCATGTCTG TTTCCAAAGTTTTCCCTTTTAATAAGGACACCAGTCACACTGGATTAGGG CCTACCTTCATGACCTCACCTTAACTTGATTGCGTCTGCAAAGATCGTAT TTCCAAATAAGGTCACATCCACAGGGACTGGAGGTTAAGACTTCAGCATA CTCAGGGGAGACACAATTCAACCTATAACAGAGCCCCTTTGAAAATGTCA GGCATCAGGTGCTCACAGCACACGGTCCAGCTGTTGGTGCTCACCCTTGC TCAGCACACGGTGGAGGCTCTGCCTCAATCTCATTCTTCATGGGAACAGC TAAGCCAGGTAGCGAATACGAGTTACGTTTGTGTCACCACAGCAGACACT GAAAGGAAGTTTGTGGTGTCCAGCACATTTGCCAGCATAGGCCTCACAGA CCACAACACCTAGAATCTGACAAAAATTAGAATAAATCCGATGTCTCCTT TTCTCTCTTTTTTTAAGCATTTTTAAATACAATTGGTAAATTTCCTGACT GTACCCTACTCATCTTGCATTGCTGAATAAGTGAGGAACCTCTCTATGGC ATGAAGCAGAAAACCATTGAGCTTATGAGAAGAAACAGGAAATACATGTA AAAGAGACCAGTCTGAAAAATCAGGAGAAATTTTACAAAAGAGATTTACT GCCAAGAAACCAGGGAAACTTTCAGAACACTCTCCTTTTCATATTTGTAA CAAGATTCAATTGTACAAATACTTCTGTGAAACTAGCCATGAAGTGTGTA CATGAATGAATATATGTATTCAGTGTGTTTATATATTTCATTTCATACAT GTGATCTATATCATATATATATATATATATATATATATATATATCACAAT GAATATTGCAGAAAATTAAAGCAAAGAGTAAGAAGAGTTAACCAAATGTT CCCTGAATGCAGTGGGAAAAGATGAAAAGGAGAAGACAGGCAAGCACAGT GGCTCACACATGTAATCCCAACATATTGAGAGGCCGGGGCAAGAGGATCA CTTGAGCCCAGGAGCTCAAGACCAGCCTGGACAACATGGCAAAAACCCAT CTCTACAAAAAAGTATAAAAATTAGCTGGGCATGGCAGCATGTGACTGTA GTCACAGCTAGGCAGGAGAATGAAGTGGGAGGATCACCTGAGCCCAGGAG GCTGAGGCTTCAGTGAGCCTTGATGGCAACCCTGCACTCCAGCCTGGATG ACAGAATGAGACCCTGTCTCAAAAAAGGAAAAAGAGAAGACATATGTAAC ACAGTGTCAGGATTCAAAATACATGTAGCAAAAATTCCAGAAGGGTAAGC AAATAAGCCCATACCTAGCCATCACTAGGGAAACTTCTGTGTTTCAGGGA TAGAGAAAAAAACTCTGATTCCAGAAATAAAATGTGAAAATATAATACCC GCAAAAGAAATAAATTTATTGACACCACATTGATTCTATATTGTATAAGA TATATTGTATAACACTAAATTGTAGAAGATAGCACTTCTCTTGAGCCAAG CTAATATGCACACCTAGAGGCTCCAGGTACACATTAAAGGATAAGCAAAG ACACAAAAATTGTACCATTTAAGTATGTTTCCCAGGCAATTCATAAGCAA ATTTTTAAAAAGGAGAATGATGAATTCCAAAGGAAATCTCAATGAGATAG GATGTAGGTAAAAAGAAAAAACAACAATAAAAAAAACATACACACAAAAT CTTGGCAATGTAATAATAATTTATTAATAATCTCTCTAAACTCATAGAAT ATATCAATAAAACTAGAAAATGTGAGACAGCAAGAAAAGATAGGCTAGAC TTACATTACAGAAAAGATGAGTAGACTGACTATATAGAGTTTGACTCTAA AATTGAGAAAAGAGGTTTAAATATGTGTCACGTGTATATGTATAATATAC ATGCACACATATAAAATGAAATTCCTCACTGGAAAAAATATTAAGTTTAA TTTCCAAATTATTAGAATGACTAAAACAGTTGAATCTATCTGTTCCATAT AGTAATTGAGGGGGAAGGAAAAGGAATAGCAAGGAATCCATTTTTCTCTT CCACCAGAAATAAGCTCCCTCATGTTTGGGTCAGGTCACTTTATTCATTG CTTTCTCCACATCCTCATCATTAGGCATCATGAAATCAATGAAAAGGCAG TGAAAGAATGATGATGAAAGCTAATCAAATGTATCATTTACCTCAATACG TTTGGTTTAATCTTCTTGTTGAAAGACAAATTCTCCTAGACAGGATCAAA AGCAACATATCTTGTATTTATAAAAAACATGTCTCAAGTAAAATGACATA GTATTATACACACACACACACATACACACACACACACACATTAAGGGAAA ATGCAGACAAAAAATGGCAGAAATAATATTTAGAGAAAGATAGAATTTAA GAAAAAAAATTGTCAAACAGGTCTGCAAAATAATTGTTTTATTTTGGTGC CAGTTACAGTCCGCAATGAAGCGAAGATATTAAGAAGCAAAGTGGGCCAG GAGAAATTAGAGCAGAAATATCTCTTTCAATAGTGAGAGAATAGGAAAAA GAAGTAGAAAAGCTGGGAACAATAGGTAAAGTTTAGGCTAGGCCTTAGAC TTCTCCTGCATTGTAATCCCTCTGGTTTGCCACATATGCATGCTGTCAGG AAGTTGATGAGGTATGTACAGCACAATTTATTTTCCATTTTTTGCCTTTA GGCACCGACTCATTGGTCACTCATCTGCTGAATGTATCCTCTCGGGCAAT GCTGCCCATTGGAGCACGAAGCCGCCAATTTGTCAACGTGAGTTGAAATC TCTTTCCCCATTCACCCCACCGTTTAATCCTAGAGTTGTCCTCCTAGAAT TACAAAGAATGGATCTCATCCCTCTTGGAAATGGTATCCTTCTCATATTT GAAGAATCCAGTCATATCCTTAAAATGGCTCACAGCATTCCAAACTTCCA CCTTCAGCTAGAAATGCTTTTTTATTTTTTCTTATCTCAAGGTCTAATTT TTTTTAAACTAGTCTTTAGCTCACTTAAACAGTCCCCCAATTTCATCCTC TGTTGGGTGAACACCTCCCAGTTTAAAGAGCATTTTATTTAGTGAAGTCA ACAAATACAAAGTCAGTGAAAGAAACCCCATATCCTCTCTGCAAGCTCTT AGTATCACATCAGATATTCAAGCCATGCAGCTCTTTCTTCCTTCTTATTC TTTGTCTAAACAGGATCATGCCATCTTCCCTGTGAGTTGTTTGGAAGATG AGCTTTCTACATTTTGGGGAGCAAAGACGAATGAGCAATTGCAAGCTAAC AAGGAATATAAAATGTGTATAATCCTGGGTTTAGTGATGGTGTGAGGAAA TCAGCAATTTCAAACCCAGTTGGTGGGAGGATAAGTGGGAACAAACTTTG TAGAAGGCCAATAAACTGGCTGGGCACTGCCCTACGGTAGAGTAGGACAC AGTATTCAGTTCTTCCAAGATCAGACGAGATTGGGCGCATTTAGGGTGGT ATGGTTGTAGATCAGTATCCAGTTCTTTTTATTATTTCTGAATCTGTAAG TATCATGTTTATTATATGTAATATTGTATATTTGTACTTTGTCTTTGTTA GTTCTTCCAGAGCTTTTGTTCTTATTATTTAATAAAGATGTTATACTGAG CCACATGTGGTGACTCAAACGTGTAATCCCAGCACTTTGGGAGGCCTAGG TGAGCAGATGGCTTGAGTCCAGGAGTTTGAGACCAGCCTGTACAACATAC TGAAACGCTGTCTCTACAAAAATACAAAAACTATACGGGCATGGTGGCAC ATGCCTGTAGTCCCAACTACTCAGGAGACTGAGAGGTGGGAGGATTGCTT GAGCCAGAGAGGTCGAGGCTGCAATGAGCCATGATCGTGCCACTGCACTC CAGTCTGGGCAGCAGAGCAAGACCTTGTCTCAAAAAAAATGCTATGCTGT ATGCTTTATTATATTAATATCCAATAGAATAAAGACACATGCCTTCTATA TAGAGAGAACTAAATTAATAATGGTGAGATAACAGTTAAATTCTCATTTA GCAGGAGAAATAAAAACATAGACTATAGGCTAGGCACAGTGGCTCATACC TGTAATCCCAGCACATTAGGAGGCTGAGGTGGGCAGATCACTTGAGGTCA GTAGTTTGAGACCACCCTGGCCAACATAATGAAACCCCGCCTCTACTAAA AATACAAAAGTTAGCCGAGTTTGGTGGCGCATGCCTGAAATCCCAGCTAC TCAGGAGGCTGAGGCAGGAAAATCGCTTGAACCTGGGAGGCAAGGGCTGC AGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGGAACAGAGTGAGG ATCTGTTAAAAAAAAAAAAAAAAAGTGGACTCTAATAATACATGGACACA TTTAGTGAAATAAACTTAACTGAGTAGAGCAGAACTTATAATATTTTAAA ACTGTAAGAACATGTCTGTACATTAGCAAATAGTAGATGAGAATAGTATT TTCAATATTTACTTCTGGTAATTTGGAATTAAAAAAAAAACTTTTGGGAA AATTTACAATAAAGTATGATTTTAACAAACCAGGCTAGGCGTGGTGGCTC ACGCTTATAATCCCAGCACTTTGAAAAGCAGAGGCATGCAGATTGCTTGA GGCCAGGAGTTCAAGACTAGCCTGCCCAACATGGCCAAACCCCATCTCTA CTAAAAATACAAAAATAAACCAGACATGGTAGTGCATGCCTGTGATCCCA GCTACTCGGGAAGTTGAGGTAGGAGGATTGCTTGACCTGGGAAGTGGAGG TTGCAGTGAGCCATGATCGTGCCACTACACTCCAGCCTGGGTGACAGAGC AAGACTCTGTCCCAAGGTTTTGTTTTGGTTAACTTGCTGTCCCTTTTTCC AGGAATTCCTTGTGGGCTACCCCCCACCATCGCCAATGGAGATTTCATTA GCACCAACAGAGAGAATTTTCACTATGGATCAGTGGTGACCTACCGCTGC AATCCTGGAAGCGGAGGGAGAAAGGTGTTTGAGCTTGTGGGTGAGCCCTC CATATACTGCACCAGCAATGACGATCAAGTGGGCATCTGGAGCGGCCCGG CCCCTCAGTGCATTATACCTAACAAATGCACGCCTCCAAATGTGGAAAAT GGAATATTGGTATCTGACAACAGAAGCTTATTTTCCTTAAATGAAGTTGT GGAGTTTAGGTGTCAGCCTGGCTTTGTCATGAAAGGACCCCGCCGTGTGA AGTGCCAGGCCCTGAACAAATGGGAGCCGGAGCTACCAAGCTGCTCCAGG GGTGAGTCTGACTGAGGCCTAGTAGGGCCCTGCAAGTGACATGCGTTGCT GTTGGATCAGGAGATTAGTATTTGTTCACGGGGAGGGATGTGTGCTGAGC AGGGTCGAGGAGCAAATTTTCTAAGTAGTGAACATGAAATTCAGGTGTGT AGACATGT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0013 a0015 a0018 a0022 a0023 a0026 a0027 a0030 a0031 a0032 a0033 a0034	a0001c0001 a0001c0016 a0001c0029 others(28): Show a0001c0001 a0001c0016 a0001c0029 a0002c0002 a0002c0033 a0002c0053 a0003c0003 a0003c0013 a0003c0027 a0003c0036 a0004c0004 a0004c0009 a0004c0035 a0005c0006 a0005c0008 a0007c0007 a0007c0012 a0010c0042 a0010c0043 a0013c0017 a0015c0052 a0018c0044 a0022c0048 a0023c0046 a0026c0047 a0027c0045 a0030c0051 a0031c0026 a0032c0034 a0033c0050 a0034c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0016t0002 a0001c0029t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0018 a0002c0002t0022 a0002c0033t0001 a0002c0053t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0011 a0003c0013t0003 a0003c0027t0003 a0003c0036t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0004c0009t0001 a0004c0009t0002 a0004c0035t0001 a0005c0006t0001 a0005c0006t0002 a0005c0008t0002 a0007c0007t0001 a0007c0007t0020 a0007c0012t0001 a0010c0042t0002 a0010c0043t0003 a0013c0017t0003 a0013c0017t0021 a0015c0052t0002 a0018c0044t0002 a0022c0048t0005 a0023c0046t0002 a0026c0047t0012 a0027c0045t0011 a0030c0051t0001 a0031c0026t0003 a0032c0034t0001 a0033c0050t0001 a0034c0032t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(268): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0147 a0001c0001t0001g0246 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0335 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0070 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0163 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0277 a0001c0001t0002g0285 a0001c0001t0002g0300 a0001c0001t0002g0306 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0243 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0301 a0001c0001t0004g0032 a0001c0001t0004g0159 a0001c0001t0004g0183 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0284 a0001c0001t0007g0135 a0001c0001t0007g0140 a0001c0001t0008g0105 a0001c0001t0008g0177 a0001c0001t0008g0226 a0001c0001t0010g0338 a0001c0001t0010g0339 a0001c0001t0015g0248 a0001c0016t0002g0063 a0001c0016t0002g0064 a0001c0016t0002g0065 a0001c0029t0002g0095 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0036 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0151 a0002c0002t0001g0161 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0185 a0002c0002t0001g0194 a0002c0002t0001g0197 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0212 a0002c0002t0001g0216 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0256 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0129 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0167 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0215 a0002c0002t0002g0219 a0002c0002t0002g0283 a0002c0002t0003g0117 a0002c0002t0003g0120 a0002c0002t0003g0204 a0002c0002t0018g0119 a0002c0002t0022g0008 a0002c0033t0001g0101 a0002c0053t0001g0195 a0003c0003t0001g0109 a0003c0003t0001g0342 a0003c0003t0002g0096 a0003c0003t0002g0112 a0003c0003t0002g0143 a0003c0003t0003g0004 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0107 a0003c0003t0003g0110 a0003c0003t0003g0111 a0003c0003t0003g0144 a0003c0003t0003g0152 a0003c0003t0003g0162 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0259 a0003c0003t0003g0260 a0003c0003t0003g0261 a0003c0003t0003g0262 a0003c0003t0003g0273 a0003c0003t0003g0278 a0003c0003t0003g0279 a0003c0003t0003g0291 a0003c0003t0003g0340 a0003c0003t0003g0341 a0003c0003t0003g0344 a0003c0003t0003g0345 a0003c0003t0003g0353 a0003c0003t0011g0106 a0003c0013t0003g0006 a0003c0013t0003g0263 a0003c0013t0003g0264 a0003c0027t0003g0274 a0003c0036t0003g0265 a0004c0004t0001g0079 a0004c0004t0001g0081 a0004c0004t0001g0292 a0004c0004t0001g0323 a0004c0004t0002g0312 a0004c0004t0002g0313 a0004c0004t0002g0315 a0004c0004t0002g0321 a0004c0004t0002g0322 a0004c0004t0002g0324 a0004c0004t0002g0325 a0004c0004t0002g0326 a0004c0004t0002g0327 a0004c0004t0002g0328 a0004c0004t0002g0329 a0004c0004t0002g0330 a0004c0004t0002g0331 a0004c0004t0002g0332 a0004c0004t0002g0337 a0004c0004t0002g0349 a0004c0004t0002g0351 a0004c0004t0002g0352 a0004c0004t0006g0075 a0004c0004t0006g0076 a0004c0004t0006g0078 a0004c0004t0006g0088 a0004c0009t0001g0153 a0004c0009t0002g0094 a0004c0009t0002g0343 a0004c0035t0001g0097 a0005c0006t0001g0001 a0005c0006t0001g0030 a0005c0006t0001g0083 a0005c0006t0001g0090 a0005c0006t0001g0108 a0005c0006t0001g0154 a0005c0006t0001g0155 a0005c0006t0001g0156 a0005c0006t0001g0157 a0005c0006t0001g0158 a0005c0006t0001g0186 a0005c0006t0001g0187 a0005c0006t0002g0082 a0005c0008t0002g0257 a0005c0008t0002g0258 a0005c0008t0002g0268 a0005c0008t0002g0269 a0005c0008t0002g0271 a0005c0008t0002g0272 a0005c0008t0002g0302 a0005c0008t0002g0334 a0007c0007t0001g0201 a0007c0007t0001g0207 a0007c0007t0001g0210 a0007c0007t0001g0211 a0007c0007t0001g0214 a0007c0007t0001g0217 a0007c0007t0001g0218 a0007c0007t0001g0290 a0007c0007t0001g0356 a0007c0007t0020g0355 a0007c0012t0001g0184 a0007c0012t0001g0202 a0007c0012t0001g0203 a0007c0012t0001g0316 a0010c0042t0002g0350 a0010c0043t0003g0354 a0013c0017t0003g0196 a0013c0017t0003g0200 a0013c0017t0021g0116 a0015c0052t0002g0077 a0018c0044t0002g0230 a0022c0048t0005g0026 a0023c0046t0002g0037 a0026c0047t0012g0270 a0027c0045t0011g0145 a0030c0051t0001g0174 a0031c0026t0003g0307 a0032c0034t0001g0104 a0033c0050t0001g0126 a0034c0032t0002g0280	275	343	0.8017	-18557	c.223 others(19): Show c.2237-1030_3587-1030del		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	14/47				INFO_REALIGN_3_PRIME	chr1	TogoVar
CRTC3_chr15_90524923_90650345	90638514	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00558.hp2 HG00735.hp1 others(28): Show HG00438.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02135.hp1 HG02258.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG03098.hp1 HG03540.hp1 HG03831.hp2 NA18949.hp2 NA18954.hp1 NA19030.hp2 NA19077.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0013 a0003c0014 others(1): Show a0003c0003 a0003c0013 a0003c0014 a0004c0005	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(9): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0008 a0003c0003t0034 a0003c0003t0037 a0003c0013t0004 a0003c0014t0028 a0004c0005t0001 a0004c0005t0003 a0004c0005t0025 a0004c0005t0043	a0003c0003t0001g0022 a0003c0003t0001g0045 a0003c0003t0001g0060 others(28): Show a0003c0003t0001g0022 a0003c0003t0001g0045 a0003c0003t0001g0060 a0003c0003t0001g0184 a0003c0003t0001g0204 a0003c0003t0001g0210 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0220 a0003c0003t0001g0233 a0003c0003t0001g0242 a0003c0003t0001g0262 a0003c0003t0001g0264 a0003c0003t0002g0162 a0003c0003t0002g0241 a0003c0003t0003g0019 a0003c0003t0003g0145 a0003c0003t0003g0174 a0003c0003t0003g0246 a0003c0003t0003g0265 a0003c0003t0008g0032 a0003c0003t0034g0031 a0003c0003t0037g0144 a0003c0013t0004g0014 a0003c0014t0028g0253 a0004c0005t0001g0084 a0004c0005t0001g0091 a0004c0005t0003g0086 a0004c0005t0025g0088 a0004c0005t0043g0132	31	274	0.1131	1	c.134 others(5): Show c.1340dupC	p.Tyr others(5): Show p.Tyr448fs	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	12/15	1490/5214	1341/1860	447/619	INFO_REALIGN_3_PRIME	chr15	TogoVar
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(408): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0008 a0006c0007 a0007c0006 a0008c0011 a0009c0013 a0010c0010 a0011c0009 a0012c0012 a0013c0014 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0005t0040 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0023 a0002c0002t0030 a0003c0003t0034 a0003c0003t0043 a0003c0003t0044 a0004c0004t0009 a0005c0008t0013 a0005c0008t0024 a0006c0007t0058 a0006c0007t0059 a0007c0006t0039 a0008c0011t0024 a0009c0013t0001 a0010c0010t0013 a0011c0009t0001 a0012c0012t0057 a0013c0014t0033 a0014c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0075 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0029 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0040 a0001c0001t0004g0056 a0001c0001t0004g0139 a0001c0001t0004g0173 a0001c0001t0004g0183 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0020 a0001c0001t0005g0143 a0001c0001t0005g0177 a0001c0001t0005g0182 a0001c0001t0005g0197 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0019 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0045 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0131 a0001c0001t0006g0151 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0007g0002 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0019 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0066 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0090 a0001c0001t0007g0106 a0001c0001t0007g0132 a0001c0001t0007g0171 a0001c0001t0007g0176 a0001c0001t0008g0001 a0001c0001t0008g0004 a0001c0001t0008g0014 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0008g0181 a0001c0001t0008g0186 a0001c0001t0008g0194 a0001c0001t0008g0198 a0001c0001t0009g0001 a0001c0001t0009g0020 a0001c0001t0009g0027 a0001c0001t0009g0048 a0001c0001t0009g0174 a0001c0001t0009g0184 a0001c0001t0011g0005 a0001c0001t0011g0034 a0001c0001t0011g0077 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0011g0083 a0001c0001t0011g0085 a0001c0001t0012g0010 a0001c0001t0012g0028 a0001c0001t0012g0068 a0001c0001t0012g0149 a0001c0001t0012g0166 a0001c0001t0013g0001 a0001c0001t0013g0014 a0001c0001t0013g0027 a0001c0001t0013g0039 a0001c0001t0014g0007 a0001c0001t0014g0026 a0001c0001t0014g0028 a0001c0001t0014g0073 a0001c0001t0014g0148 a0001c0001t0014g0154 a0001c0001t0014g0158 a0001c0001t0016g0002 a0001c0001t0016g0008 a0001c0001t0016g0144 a0001c0001t0016g0152 a0001c0001t0016g0159 a0001c0001t0019g0074 a0001c0001t0020g0002 a0001c0001t0020g0047 a0001c0001t0020g0049 a0001c0001t0020g0050 a0001c0001t0020g0155 a0001c0001t0021g0005 a0001c0001t0021g0080 a0001c0001t0024g0187 a0001c0001t0024g0188 a0001c0001t0024g0192 a0001c0001t0025g0013 a0001c0001t0025g0014 a0001c0001t0025g0069 a0001c0001t0025g0175 a0001c0001t0025g0178 a0001c0001t0026g0003 a0001c0001t0026g0009 a0001c0001t0026g0116 a0001c0001t0026g0125 a0001c0001t0027g0161 a0001c0001t0029g0003 a0001c0001t0029g0124 a0001c0001t0029g0141 a0001c0001t0031g0078 a0001c0001t0031g0084 a0001c0001t0031g0086 a0001c0001t0033g0021 a0001c0001t0035g0087 a0001c0001t0035g0088 a0001c0001t0041g0030 a0001c0001t0042g0004 a0001c0001t0045g0014 a0001c0001t0046g0053 a0001c0001t0047g0053 a0001c0001t0048g0001 a0001c0001t0049g0179 a0001c0001t0050g0079 a0001c0001t0051g0007 a0001c0001t0053g0001 a0001c0001t0054g0138 a0001c0001t0055g0055 a0001c0001t0056g0055 a0001c0001t0060g0021 a0001c0001t0061g0076 a0001c0001t0062g0203 a0001c0001t0063g0030 a0001c0001t0064g0202 a0001c0005t0040g0162 a0001c0005t0040g0163 a0002c0002t0010g0006 a0002c0002t0010g0011 a0002c0002t0010g0033 a0002c0002t0010g0061 a0002c0002t0010g0222 a0002c0002t0010g0224 a0002c0002t0010g0228 a0002c0002t0010g0229 a0002c0002t0010g0230 a0002c0002t0015g0006 a0002c0002t0015g0011 a0002c0002t0015g0223 a0002c0002t0015g0226 a0002c0002t0015g0232 a0002c0002t0017g0017 a0002c0002t0017g0038 a0002c0002t0017g0101 a0002c0002t0023g0006 a0002c0002t0023g0011 a0002c0002t0023g0225 a0002c0002t0023g0231 a0002c0002t0030g0006 a0002c0002t0030g0227 a0003c0003t0034g0169 a0003c0003t0034g0170 a0003c0003t0043g0167 a0003c0003t0044g0168 a0004c0004t0009g0032 a0005c0008t0013g0001 a0005c0008t0024g0189 a0006c0007t0058g0165 a0006c0007t0059g0164 a0007c0006t0039g0035 a0008c0011t0024g0172 a0009c0013t0001g0002 a0010c0010t0013g0001 a0011c0009t0001g0108 a0012c0012t0057g0200 a0013c0014t0033g0021 a0014c0015t0001g0089	411	446	0.9215	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7					chr9	TogoVar
CYP3A43_chr7_99823013_99871093	99836454	TA TA	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG01109.hp2 HG01516.hp1 HG01517.hp1 others(34): Show HG01109.hp2 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG04199.hp1 HG06807.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0011 others(3): Show a0002c0002 a0002c0010 a0002c0011 a0002c0014 a0002c0015 a0002c0019	a0002c0002t0001 a0002c0010t0001 a0002c0011t0001 others(3): Show a0002c0002t0001 a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 a0002c0015t0001 a0002c0019t0001	a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 others(28): Show a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0010t0001g0036 a0002c0010t0001g0171 a0002c0011t0001g0037 a0002c0011t0001g0172 a0002c0014t0001g0173 a0002c0014t0001g0183 a0002c0015t0001g0039 a0002c0019t0001g0191	37	324	0.1142	-1	c.74d others(3): Show c.74delA	p.Tyr others(4): Show p.Tyr25fs	CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	2/13	177/1707	74/1512	25/503		chr7	TogoVar
CYP3A43_chr7_99823013_99871093	99863766	AAAAATTA others(2166): Show AAAAATTATTGTTCATTTTTCAATAATTTGCTCTGTAGGACAAAGAATCT AATTGGAGCTATCCATAATGCTTAAAGATGAATCACTTCTGGAGTTCAAA ATCTGTGGCTTTGTAAAGACAGAACTATAAAGATCATCTAATGTCAATAT AGATTAGCATGGTATAATTATGTTCAGTCTCTGTGAACTTGAGCAAATTT TAAATTCAGTTTCATGTCAACTGTAAAGATGAGGAAGTCTTTTGCACAAT CATGAAGTGCAATGATTACTTTGTCAGGACTTTCGAATGGTGCTCTCCTC CACTAGAACTCACTAGAACTTGCAGAAGCTTTCTCATGACAGTGTTTCTC AACCACTAGCTGTACATTGGAATCACTGGGGAGCTTCAAAAATTCATGAT GCCTGGATCATCTCACAAATTCTAAACTAATTTGCCCAGAGTTGTGGCTT TAAAAGCTCTCCCATTGGTCCTCATGTGAAGCCAATGTTGGGAATCACTA ATTTAAGGCATTTCTGCCAGATAGAAAAGATACTTACAGTCCAAGGCCAT CCTGACCATTTGACCTTATCTTCCAGGAGCACTGCTTCGCTGCTTCATAC AAGCTGTGCATCTTTTCAACCCAATAATAGCTCTATGAATGTTCTTCTTT TCCTTCTCATTATGTTCCTATCCCACAAGTCCTACATCAATTCCCCAAGC CACTCTAAGAAACCTTCCCCATCGAGTACAGGGCCAGTTATTCTTCTGCT TTGTTACTGTTTATTGCAGGCTGTTATCATCACCTAATCTTATACTTTTC ATTAAACCACTCAGTTTTATTCTACAAGTCTTTTCTCTATTCTAAGAATT TCTCCTCTCTGCCCCATTTATGTTGTTTTGTTTTAATTCTTTCATAAAAG TCCAATAGTGTCTTGCAGAGGACATTATCCATTGCAGGCATTCCACACAT GTTTAAGGAGTGAGTTTCAGTTGATTTGGAGTTCTTGGATACAAGTTTTA AGCTGTTTAATTTTTAAATTTAATATGTGACATTTGTATATTTGAGTGTG TATGTCTGTCTGCAGGAAAAACATTCATGCCATTTGAAATTTTAAAATAA TGAGTCACATTAATAGAAAGATATGGAATCTTTCTCTGAAGAACTTAATG AACACTTGTCATTTATTTATATCAAGCAAGGCCCTATAAGCCTTATTTCT AGGACTTGTGCATTTACTATGCAACTCCTATTCTAAAGTAGGCTTTGTGC ATGGGAAGGAAGAATAGATAGGGTTTCAATCTTATTTGTGGCTTTAGGGA AGCTGTACATCCATCCTCTAAGTGTGTACAGACAGGGGCTCAACTCTGAA TAAAAGCAGGTCTCTGGCACACATGGGATGGGGTGATACTCCCTGGCAAT TTCCCAAGCATCTACTAGCTGGCACTTTTCAATTTCCATGACAATTTGCC TGCCCTTCACTTAACTGACATCAGAACATTTCTCTGCTGGCTGCTCCCCT GACACTGAAGTGACTTGGGAGAATGAGGGCTCAAAGTATTAGTCAAAACA CTATAGGCCTTGAGAAGCTTCCCATTTGCATTTCCTTTGGAAATCAAGAG AAGAAGTAAAAAACAAAAGCATAATGCTTCTTGAAGATCTCTTCCCATCA TTACACTGGATAGGTTCAGTTGGATGGAGTTAGTGAATGCTTAATAAGTT GAAGACTGTCCATATAATTGAAATATATAACACCTACTGAGGATTACCTT GCAAGTTTCATCATATACAAAATTAACTTTATATGGCTTTTCCAAAATAG TTTAACATAATGCCTAATAATCTGGATTTGATTTTTTAAAATATCTCTTT GCTTAAAATTTAAATAAAAAGGAACAGAAGCCAGCATGAACAATCTCAAG CCTGGCACAGAATAGATACTCAATAAATATTTTGTTAAATGATGAATGGT AAATGCTTTCACTATCCAATCTTCACAGAGCTAACTGAACAAGTACAAAT AAACCAACATGTATGGTGCTGAAAGTAGTTTTTTTTTAGTCATTGCAAAG CATTACCCTTGATGTCATCTTTTTTATTTTGCTTCTATCTTTTCTTCATT TGCTTCATTGTTTCTGAATATTCTTGTTTAACTTTTGCAGATCCCACTGA AATTAGACAATCTACCAATTCTTC	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0010 a0002c0011 a0002c0014 others(3): Show a0002c0010 a0002c0011 a0002c0014 a0003c0004 a0003c0005 a0006c0017	a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 others(3): Show a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 a0003c0004t0001 a0003c0005t0001 a0006c0017t0001	a0002c0010t0001g0036 a0002c0010t0001g0171 a0002c0011t0001g0037 others(13): Show a0002c0010t0001g0036 a0002c0010t0001g0171 a0002c0011t0001g0037 a0002c0011t0001g0172 a0002c0014t0001g0173 a0002c0014t0001g0183 a0003c0004t0001g0014 a0003c0004t0001g0015 a0003c0004t0001g0175 a0003c0004t0001g0198 a0003c0004t0001g0199 a0003c0004t0001g0200 a0003c0004t0001g0201 a0003c0005t0001g0005 a0003c0005t0001g0217 a0006c0017t0001g0207	28	324	0.0864	-2173	c.141 others(12): Show c.1416+70_1452del	p.Ile others(13): Show p.Ile473_Pro485del	CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	13/13		1417/1512	473/503	INFO_REALIGN_3_PRIME	chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99652770	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG02055.hp2 HG02257.hp1 HG02486.hp1 others(11): Show HG02055.hp2 HG02257.hp1 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0051 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0174 a0001c0001t0001g0176	14	290	0.0483	1	c.103 others(5): Show c.1035dupT	p.Thr others(5): Show p.Thr346fs	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	11/13	1135/1720	1035/1509	345/502		chr7	TogoVar
DAZ2_chrY_23214533_23296356	23249555	CTTTTTTT others(7149): Show CTTTTTTTTTTTTTTTTTTTTAAAGATGCCACCTTAGGGGCCTGTTGGGG AGCAAAGGGATTATGTTGTCCTTGACGTTAAGGGAATTAGCCAAACATAG ACTTCCTGTTCATTCTTGATTTTTTTCCATGTCCTATATGCCTATAAATA TTTTTAAGTGATTCTTTATATTAATTTTTTTGTCGTTGTTACTTTCTTGT TAACCCGATTATGAACTCCCATGGGAGCAAGAGTGCCTTTTTTGCCCTCA GGTTTTTATGTGCCTAAGCAATGGCAGGTCCACATAATGATAGACTATAT AATCACAGAAAAGTAGTATTCACTTGACTTTAGAATTATCACGTATCTGC CAATAATCTGCCTCTGGCTTTACCAGCAATAGAAAATTTATAGAAGAGAA ACAGAATTGCTTTGCTGTTAATGACGCTTAAATAAGAACAGGAGTGAACG AGAGTATTACCTCCAAATCACCGGAGCTGCTTTCCCCCTTATAAGCAGTT CCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCT TCGGTAAGTTTAGCAGTTCATCTAGCTATCCTTTATTTGAAATGATTTCC AGATGCCTCCTCATATAAATTGCTGACTTCTGGATATTTCCTGGTTCTGG AATGGGTAGATTTCTGATGTGGTTTAGTATATATATGTAAACCCCGTGAG CTTCTGGCATCTAATTTCTCTGATCCTGGTTACATTGATATTTAAAGTAG GGTTTGACATACTCTGTCACCTACTGTTGATAAATAACGTTTATATTCTT CTTAGTTCATTTTATTGACGTGTTAGCTTTAAAGACATTTTCTTTGACGG AAAATGAAGTAACAAAATAATAGTGAAATAGTTATGCAGTGTCTCTAATT TGTTGATATTTTCCATGTACTTGAAACTTGTATGGTATACCTCTTCTTTT TCCTTCTCTGAACAATGGCTAGAAAAAAAGTCCTACTTTTTTCTGTCATT TACTGTGAGGCATCACTGATTCTGGGTGTATTCATGTATGCTGCTACCTG TATGTTTTCAAACAATAAGAATTTATTGAAACATGTAAGACATTATACTT TCTCTTCTCCAGTATTGGATCATAGACTGCACTTAGTTTTTCGTAATGAA GTACAGACAAAGCCATAACATCTGTCGAACTACATATTACCCTATAATAT TGTCTGATACAAAACAGTCTAGAAATATTCTTACAGAGAAATTGCAAATG TATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTACCACCAG TGTAAGAAATAACGTCTGGGTGTGAATAAGTACACAGTATAAGGTAAACT TTGGTGAAGTAGTCAATTCTTTTGTCATTTGTTCCCCCTTCACACCCATA GTGTAGCACTTGACCTAGAATCTTTCTTTCTTCATAAAGTCAGTCATTCA TTTGGAATTCTGCATTGTTGTACGTAGAAAAAGGATATTTTACCTTTTGT AATATTTTTGTTATATTGGGAATTATATTTCTTTGTAATTTTAAAAAGTG GTTTACCATATTCATTTTTTTCTGCAACCTTTCTTTTCAGCCATTTCCTG CTTATCCAAGATCACCATTTCAGGTCACTGCTGGATATCAGTTGCCTGTA TATAATTATCAGGTAATGTAAGAAGGAGTAAAATGATTTACTTTCAGGTA TTACTGAGGCATTCAACTTGTTTATACAAATTTCCTGAATAGTTGGTCAT TTTAAATTAGTGAAGTGTACCTAAAATTTAAGGAAACACGTAGAAGTAGT GTAGAATGAAGACCTCTGTCTTATTTAGAAGTAATGAAGTAGTATTTTGA GAGGAATATACTTGGCAATAACTTTTCTGTAGAAGAGATTTCTGAGATGT GGTGTTCTCTTCTTTATTTCTGGATGCAGTTTTCATCTTTACTGTGAAAT AGCTGAATGAAACATCCAAACTGACTTTCATGAATTTTCTTAGGGAGATA GAGTGAAATAAATTTATGCTGCACTTTTCAGAGCACAGAATCCCAATTAC ATTTTCATTTTAGCTGGCTGTTTGAAGATAGTAATGCTCTGGATCTCTTT TCATAGATACAAGTATATCTATGACCCATAATTACATCTATGGTAAGAAA CTGAAAGAGGTAGTATCTTTGAGGTTTCCACCTTGCCAACTCCCGAAAAT TTGGAGAAAGGTGAAGTTTCCAATATAAAAGTAACAAGAATGTCATGGAC TAGAAACATAAAGTACTTAAGTTTTCCTTTCTGTTACTTTTATTATAATG AAAAAGGAGACAGCCGGATAAGTACTTCAATGTTGTATTTCTCATGTGTT TTTGAAAATGTGTAGGAATACATATAATAGTTTCGGTGTCCTTTTTTTTT CTTTCTTTTTCTTTCTTTTTTTTTTTTAAGATGCCACCATAAGGTCCTGT TGGGGAGCAAAGGATTATGTTGTCCTTGACGTTAAGTGAATTAGCCAAAC ATAGATTTCCTGTTCATTCTTGATTTTTTTCCATGTCATATATGCCTATA AATATTTTTAAGTGATTCTTTATATTAATTTTTTTGTTGTTGTTACTTTC TTGTTAACCCGATTATAAACTCCCATGGGAGCAAGAGTGCCTTTTTTGCC CTCAGGTTTTTATGTGGTTAAGCAATGGCAGGTCCATATAATGACAGACT ATATAATCAAAGAAAGGTAGTGTTCATGTGACTTTACAATTAGCATGTAT CTGCATAGAATCTGCCTCTGGCTTTACCAGCAATAGAATATTTATAGAAG AGAAACAGAAATGCTTTGCTGTTAATGACGCTTAAATGAGAATAGGAGTA AACGAGAGTATTACCGCCAAATCACCGGAGCTGCTTTCCCCCTTATAACC AGTTCCTAAAGTGAATGAAAGCAGCTCCCCTTATGTGTCTGCCTACTTTA TTCTTTGGTAAGTTTAGCAGTTCATCTAGCTATTCTTTATTTGAAATGAT TTCCGGATGCCTCCTCATATAAATTGCTGACTTCTGGAAATATTCTTCTT CTGGAATGGGTAGATTTCTGATGTGGTTTAGTATATATATAAACCCCGTG AGCTTCTGGCGTCTAATTTCTCTGATTCTGGTTACACTGATATTTAAAGT AGGGTTTGACATACTCCATCACTTAATGTTGATAACTAACCTTTATATTC TTCTTAGTTCGTTTTATTTATGTGTTAGCTTAAAAGACATTTTCTTTGAT GGAAAATGAAGTAACAAAATAATAGTGAAATAGTTCTGCGGTTGTCTCTA ATTTCGTGATATTTTCCATGTACTTGAAACATGTATGGTATACCTCTTCT TTTTCCTTCTCTGAACAATGGCTAGAAAAAAAGCCTTACTTGTTTCTGTC ATTTACTGTGAGCGATTACTGAATCTGGGTGTATTCATGTATGCTGCTAC CTGTATGTTTTCAGATAATAAAAATTTTTTGAAACATATAAGACATTATA CTTTCTCTTGTCCAGTATTGGATTATAGACTGCACTTAGTTTTTCGTAAT GAAGTACAGACAAAGCCATAACATCTGTCAAACTATATATTGTCCTATAA TATTGTCTGATACAAAACAGTCTAGAAATATTCTGACAGGGAAATAGCAA ATGTATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTACCAC CAGTGTAAGAAATAACTTCTGGGTGTGAATAAGTACACAGTATAAGGTAA ACTTTGGTGAAATAGTCAATTCTTTTGTCATTAGTTCCCCCTTCACTCCC AAAGTGTAGCACTTGTCATAGAATCTTTCTTTCTTCATAAAGTCAGTCAT TCATTTAGAATTCTGCATTATTGTATGTAGAAAAACAATATTTTACCTAT TTTTGTTATATTCAGAATTATATTTCTTTCTAATTTTAAAAAAATGGTTT ACCGTATTCATTTTTTTCTGGAACCTTTCTTTTCAGGCATTTCCTGCTTA TCCAAATTCACCATTTCAAGTCGCCACTGGATATCAGTTCCCTGTATACA ATTATCAGGTAATGTCAGAGGGAGTAAAATGATTTGCTTTTAGGTATTAT TGAGGCCTTTAACTTGTTCATACAAATTTCCTGAATAGTTGCTCATTTTA AACTAGTGAATTGTACCTAAAATTTAAGGAAACACTTAGTGTAGAATGAA GACCTCTGTGTTATTTAGAATAATGAGGTAGTATTTTGACAGGAATATAC TTGGCAATAACTTTTCTGTAGAACAGATTTCTGAGATTTGGTGTTCTCTT CTTCATTTCTGGATGTAGTTTTCATCTTTACTGTCAAATAGCTAAATGAA ACGTCCAAAGTGTCTTTCATGAATTTTCTTAGGGAGATAGACTGAAATAA AATTATGCTGCACTTTTCAGAGCACAGAATCCCAATTACATTTTCATTTT AGCTGGCTGTTTGACGATAGTAATGCTCTGGATCTCTTTTCATAGATACA AGTGTATCTGTGACCCATAATTATATCTACGGTAATAAACTGAAAGAGCT AGTATCTTTGAGGTTTCCACATTGCGAAATCCCGAAAATGTGGAGAGAGC TGAAGTTTCCAATGTAAAAGTAACAAGAATGTCATGGACTAGAAACATAA AGTATTTGAGTTTTCCTTTCTGTTACTTTTATTACAATAAAAAAGGAGAC AGCAGGATAAGTACTTTAATATTGTGTTTCTCATGTGTTTTTGAAAATGT GTAGTAATACTTCAATAGTTTTGGTTTCCTTTTATTTATTAATTGATTTT TTAAGATTCCACCTTAGGGGCCTGTTGGGTAGCAAAGGGATTATGTTGTC CTTGACATTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTGAT TTTTTTCCATGTCATATATGCCTACAAATATTTTTAAGTGACTTTTTATG TTAATGTTTTTTTTGTTGTTGTTTCCTTCTTGTTAACCCGATTATAAACT CCCATGGCAGCAACAGTGCCTTTTTTGTCCTCAGGTTTTTATGTGCTTAA GCAATGGCAGGTCTACATAATGATAGACTATATAATCAAAGAAAGGGAGT ATTCACGTGACTTTAGAATTAGCATGTGTCTGCACAGAATATGCCTCTGG CTTTACCAGCAGTAGAAAATTTATAGAAGAGAAACAGAAATGCTTTGCTG TTAATGACGCCTAAATAAGAATAGGAGTAAAGGAGAGTATTACCTCCAAC TCACCGGAGCTGCTTTCCCCCTTATAAGCAGTTCCTAAAGTGAATGAAAG CAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCGGTAAGTTTAGCAGT TTATCTAGCTATCCTTTATTTGAAATGATTGCCACATGCCTCCTCATATA AATGGCTGACTTCTGGATATATTCTGGTTCTGGAATGGGCAGATTTCTGA CGTGGTTTAGTATATATATATAAACCCGGTGAGTTTCTGGCATGTAATTT CTCTGATCGTGGTTACATTGATATTTAAAGTAGGGTTTGACATAGTGTGT CACTTACTGTTGATAAATATCGTTTATTTTCTTCTTAGTTCATTTCATTG ATGTGTTAGCTTAAAAGACATTTTCTTTGACAGAAAATGAAGTAATGAAA TAATAGTGAAATCGTTCTGCTGTGTCTCTAATTTGTTGATATTTTCCATG TACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTCTCTGAACCATG GCTAGAAAAAAAGCCCTACTTGTTTCTCTCGTTTACTGTGAGGCATTAGT GATTCTGGGTGTATTCATGTATGCTGCTAACTGTATGTTTTCAAACAATA AGAATTTGTTGAAACATGTCAGACATTATACTTTTTATTCTCCAGTATTG GAATATAGACTGCAATTAGTTTTTTGGAATGAAATACAGACAAAGCCATA ACATCTATAGAACTACATATTACCCTACAATATTGTCTGATACAAAACAG TCTGGAAATATTCTTACAGCGAAATTGCAAATGTATTGATTTACCTTACA TTGCAATCTGTCTTAGTGGAACCTTATCACCAGTGTAAGACATAATTTCT GGGTGTGAATAAGTACACAGTATAAGGTAAATTTTGGTGAAGTAGTCAGT TCTTTGTCATTTGTTCCCCCTTCACACCCAAAGTGTAGCACTTGACATAG AATCTTTCTTTCCTCATAAAGTCATTCATTTGGAATTCTGCATTGTTGTA TGTAGAAAAAGGATATTTTCCGTTTTGTAATATTTTTCTTATATTGGGAA TTATATTTCTTTCTAATTTTAAAATGTGGTTTACCATATTCATTTTTTCT GCAACCTTTTCAGGCATTTCCTGCTTATCCAAATTCACCAGTTCAGGTCA CCACTGGATATCAGTTGCCTGTATACAATTATCAGGTAATGTAAGAGGTA GTAAAATGGTTTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATAG AAATTTCCTGAATAGTTGGTCATTTTTAACTAGTGAAGTGTCCCTAAAAT TTAAGGAAAGACTTAGTGTAGAATGAAGACCTCTGTCTTATTTAGAAGTA ATGAAGTAATATTTTTACAGGAATATCCTTGGCAATAACATTTGTGTAGA AGAGATTTCTGAGATTTGGTGTCCCCTTCTTCATTTGTGGATATAGTTTT CATCTTTGCTGTCAAATAGCTGAATGAAACATCCAAACTGACTTTCATGA ATTTTTTTAGGGAGATAGAGTGAAATAAAATTATGATCCACTTTTCAGAG CACAGAATTCCAATTATATTTTCATTTTAGCTGGCTGTTTGACGGTAGTC ATTCTCAGGATCTCTTCTCATAGATACAAGTATATCTATGACCCATAACT ATATCTATGGTAATAAACTGAAAGAGCTAGTATTTTTGAGGTTTCCACAT TGCCAACTCCCAAAAATTTGGAGAAAGGTGAAGATTCAAATTTAAAGTAA CAAGAATGTCATGGACAAGAAACATAAAGTACTTAAGTTTTCCTTTCTGT TACTTTTATTATAATAAAAAAGGAGACAGCGGAATAAGTACTTCAATACT GTGTTTCTCATGTGTGTTTGAAAATATGTAGGAATAGTTTAATAGTTTTG GTTTCCT	C C	exon_loss_variant exon_loss_variant	HIGH	HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show HG02055.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036	5	51	0.0980	-7156	c.114 others(17): Show c.1146+741_1362+741del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	16/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ3_chrY_24758069_24818393	24785027	CTATGTCA others(7131): Show CTATGTCAAACCCTACTTTAAATATCAATGTAACCACGATCAGAGAAATT ACATGCCAGAAACTCACCGGGTTTATATATATATACTAAACCACGTCAGA AATCTGCCCATTCCAGAACCAGAATATATCCAGAAGTCAGCCATTTATAT GAGGAGGCATGTGGCAATCATTTCAAATAAAGGATAGCTAGATAAACTGC TAAACTTACCGAAGAATAAAGTAGGCAGACACATAAGGAGAGCTGCTTTC ATTCACTTTAGGAACTGCTTATAAGGGGGAAAGCAGCTCCGGTGAGTTGG AGGTAATACTCTCCTTTACTCCTATTCTTATTTAGGCGTCATTAACAGCA AAGCATTTCTGTTTCTCTTCTATAAATTTTCTACTGCTGGTAAAGCCAGA GGCATATTCTGTGCAGACACATGCTAATTCTAAAGTCACGTGAATACTCC CTTTCTTTGATTATATAGTCTATCATTATGTAGACCTGCCATTGCTTAAG CACATAAAAACCTGAGGACAAAAAAGGCACTGTTGCTGCCATGGGAGTTT ATAATCGGGTTAACAAGAAGGAAACAACAACAAAAAAAACATTAACATAA AAAGTCACTTAAAAATATTTGTAGGCATATATGACATGGAAAAAAATCAA GAATGAACAGGAAGTCTATGTTTGGCTAATTCCCTTAACGTCAAGGACAA CATAATCCCTTTGCTACCCAACAGGCCCCTAAGGTGGAATCTTAAAAAAT CAATCAATAAATAAAAGGAAACCAAAACTATTGAAGTATTACTACACATT TTCAAAAACACATGAGAAACACAATATTAAAGTACTTATCCTGCTGTCTC CTTTTTTATTGTAATAAAAGTAACAGAAAGGAAAACTCAAATACTTTATG TTTCTAGTCCATGACATTCTTGTTACTTTTACATTGGAAACTTCAGCTTT CTCCACATTTTCGGGATTTCGCAATGTGGAAACCTCAAAGATACTAGCTC TTTCAGTTTATTACCGTAGATATAATTATGGGTCACAGATACACTTGTAT CTATGAAAAGAGATCCAGAGCATTACTATCGTCAAACAGCCAGCTAAAAT GAAAATGTAATTGGGATTCTGTGCTCTGAAAAGTGCAGCATAATTTTATT TCAGTCTATCTCCCTAAGAAAATTCATGAAAGACACTTTGGACGTTTCAT TTAGCTATTTGACAGTAAAGATGAAAACTACATCCAGAAATGAAGAAGAG AACACCAAATCTCAGAAATCTGTTCTACAGAAAAGTTATTGCCAAGTATA TTCCTGTCAAAATACTACCTCATTATTCTAAATAACACAGAGGTCTTCAT TCTACACTAAGTGTTTCCTTAAATTTTAGGTACAATTCACTAGTTTAAAA TGAGCAACTATTCAGGAAATTTGTATGAACAAGTTAAAGGCCTCAATAAT ACCTAAAAGCAAATCATTTTACTCCCTCTGACATTACCTGATAATTGTAT ACAGGGAACTGATATCCAGTGGCGACTTGAAATGGTGAATTTGGATAAGC AGGAAATGCCTGAAAAGAAAGGTTCCAGAAAAAAATGAATACGGTAAACC ATTTTTTTAAAATTAGAAAGAAATATAATTCTGAATATAACAAAAATAGG TAAAATATTGTTTTTCTACATACAATAATGCAGAATTCTAAATGAATGAC TGACTTTATGAAGAAAGAAAGATTCTATGACAAGTGCTACACTTTGGGAG TGAAGGGGGAACTAATGACAAAAGAATTGACTATTTCACCAAAGTTTACC TTATACTGTGTACTTATTCACACCCAGAAGTTATTTCTTACACTGGTGGT AAGGCTCCATTAAGAGAGATTGCAAGGTAAGTTAAATTAATACATTTGCT ATTTCCCTGTCAGAATATTTCTAGACTGTTTTGTATCAGACAATATTATA GGACAATATATAGTTTGACAGATGTTATGGCTTTGTCTGTACTTCATTAC GAAAAACTAAGTGCAGTCTATAATCCAATACTGGACAAGAGAAAGTATAA TGTCTTATATGTTTCAAAAAATTTTTATTATCTGAAAACATACAGGTAGC AGCATACATGAATACACCCAGATTCAGTAATCGCTCACAGTAAATGACAG AAACAAGTAAGGCTTTTTTTCTAGCCATTGTTCAGAGAAGGAAAAAGAAG AGGTATACCATACATGTTTCAAGTACATGGAAAATATCACGAAATTAGAG ACAACCGCAGAACTATTTCACTATTATTTTGTTACTACATTTTCCATCAA AGAAAATGTCTTTTAAGCTAACACATCAATGAAATGAACTAAGAAGAATA TAAACGTTATTTATCAACAGTAAGTGATAGAGTATGTCAAACCCTACTTT AAATATCAATGTCACCAGGATCAGAGAAATTAGATGCCAGAAACTCAAGC GGTTTATATATATATACTAAATCACATCAGAAATCTACCCATTCCAGAAC CAGAATATATCCAGAAGTCAGCAATTTATATGAGGAGGCATCTGGAAATC ATTTCAAATAAAGGATAGCTAGATGAATTGCTAAACTTACGGAAGAATAA AGTAGGCAGACACATAAGGAGAGCTGCTTTCATTCACTTTAGGAACTGCT TATACGGGGGAAAGCTGCTCTGGTGATTTGCAGGTAATACTCTCCTTTAC TTCTATTCTTATTTAAGCATAATTAACAGCAAAGCATTTCTGTTTCTCTT CTATAAATTTACTACTGCTGGTAAAGCCAGAGGCAGATTCTATGCAGCTA CATGCTAATTCTAAAGTCACGTGAATATTACCTTTCTTTGATTATATAGT CTATCATTATGTGGAGCTGCCATTGCTTAAGCACATAAAACCCTGAGGGC AAAAAAGGCACTGTTGCTGCCATGGGAGTTTATACTCGGGTTAACAAGAA AGTAACAACAACAACAACAAACATTAATATAGAGAGTCACTTAAAAATAT TTATAGGCATATATGACATGGAAAAAAAATCAAGAATGAACAGGAAGTCT ATGTTTGGCTAATTCCCTTAACGTCAAGGACAACATAATCCCTTTGCTCC CCAACAGGCCCCTAAGGTGGCATCTTTAAAAAAAAAAAAAAAAAAAGGAA ACCAAAACTATTAAACTATTCCTACATATTTTCAAACACACATGAGAAAC ACAGTATTGAAGTACTTATTCCGCTGTCTCCTTTTTTATTATAATAAAAG TAACAGAAAGGAAAACTTAAGTACTTTATGTTTCTTGTCCATGACATTCT TGTTACTTTAAATTTGAATCTTCACCTTTCTCCAAATTTTTGGGAGTTGG CAATGTGGAAACCTCAAAAATACTAGCTCTTTCAGTTTATTACCATAGAT ATAGTTATGGGTCATAGATATACTTGTATCTATGAGAAGAGATCCTGAGA ATGACTACCGTCAAACAGCCAGCTAAAATGAAAATATAATTGGAATTCTG TGCTCTGAAAAGTGGATCATAATTTTATTTCACTCTATCTCCCTAAAAAA ATTCATGAAAGTCAGTTTGGATGTTTCATTCAGCTATTTGACAGCAAAGA TGAAAACTATATCCACAAATGAAGAAGGGGACACCAAATCTCAGAAATCT CTTCTACACAAATGTTATTGCCAAGGATATTCCTGTAAAAATATTACTTC ATTACTTCTAAATAAGACAGAGGTCTTCATTCTACACTAAGTCTTTCCTT AAATTTTAGGGACACTTCACTAGTTAAAAATGACCAACTATTCAGGAAAT TTCTATAAACAAGTTAAAGGCCTCAATAATACCTGAAAGCAAACCATTTT ACTACCTCTTACATTACCTGATAATTGTATACAGGCAACTGATATCCAGT GGTGACCTGAACTGGTGAATTTGGATAAGCAGGAAATGCCTGAAAAGGTT GCAGAAAAAATGAATATGGTAAACCACATTTTAAAATTAGAAAGAAATAT AATTCCCAATATAAGAAAAATATTACAAAACGGAAAATATCCTTTTTCTA CATACAACAATGCAGAATTCCAAATGAATGACTTTATGAGGAAAGAAAGA TTCTATGTCAAGTGCTACACTTTGGGTGTGAAGGGGGAACAAATGACAAA GAACTGACTACTTCACCAAAATTTACCTTATACTGTGTACTTATTCACAC CCAGAAATTATGTCTTACACTGGTGATAAGGTTCCACTAAGACAGATTGC AATGTAAGGTAAATCAATACATTTGCAATTTCGCTGTAAGAATATTTCCA GACTGTTTTGTATCAGACAATATTGTAGGGTAATATGTAGTTCTATAGAT GTTATGGCTTTGTCTGTATTTCATTCCAAAAAACTAATTGCAGTCTATAT TCCAATACTGGAGAATAAAAAGTATAATGTCTGACATGTTTCAACAAATT CTTATTGTTTGAAAACATACAGGTAGCAGCATACATGAATACACCCAGAA TCACTAATGCCTCACAGTAAACGAGAGAAACAAGTAGGGCTTTTTTTCTA GCCATGGTTCAGAGAAGGAAAAAGAAGAGGTATACCATACATGTTTCAAG TACATGGAAAATATCAACAAATTAGAGACACAGCAGAACGATTTCACTAT TATTTCATTACTTCATTTTCTGTCAAAGAAAATGTCTTTTAAGCTAACAC ATCAATGAAATGAACTAAGAAGAAAATAAACGATATTTATCAACAGTAAG TGACACACTATGTCAAACCCTACTTTAAATATCAATGTAACCACGATCAG AGAAATTACATGCCAGAAACTCACCGGGTTTATATATATATACTAAACCA CGTCAGAAATCTGCCCATTCCAGAACCAGAATATATCCAGAAGTCAGCCA TTTATATGAGGAGGCATGTGGCAATCATTTCAAATAAAGGATAGCTAGAT AAACTGCTAAACTTACCGAAGAATAAAGTAGGCAGACACATAAGGAGAGC TGCTTTCATTCACTTTAGGAACTGCTTATAAGGGGGAAAGCAGCTCCGGT GAGTTGGAGGTAATACTCTCCTTTACTCCTATTCTTATTTAGGCGTCATT AACAGCAAAGCATTTCTGTTTCTCTTCTATAAATTTTCTACTGCTGGTAA AGCCAGAGGCATATTCTGTGCAGACACATGCTAATTCTAAAGTCACGTGA ATACTCCCTTTCTTTGATTATATAGTCTATCATTATGTAGACCTGCCATT GCTTAAGCACATAAAAACCTGAGGACAAAAAAGGCACTGTTGCTGCCATG GGAGTTTATAATCGGGTTAACAAGAAGGAAACAACAACAAAAAAAACATT AACATAAAAAGTCACTTAAAAATATTTGTAGGCATATATGACATGGAAAA AAATCAAGAATGAACAGGAAGTCTATGTTTGGCTAATTCCCTTAACGTCA AGGACAACATAATCCCTTTGCTACCCAACAGGCCCCTAAGGTGGAATCTT AAAAAATCAATCAATAAATAAAAGGAAACCAAAACTATTGAAGTATTACT ACACATTTTCAAAAACACATGAGAAACACAATATTAAAGTACTTATCCTG CTGTCTCCTTTTTTATTGTAATAAAAGTAACAGAAAGGAAAACTCAAATA CTTTATGTTTCTAGTCCATGACATTCTTGTTACTTTTACATTGGAAACTT CAGCTTTCTCCACATTTTCGGGATTTCGCAATGTGGAAACCTCAAAGATA CTAGCTCTTTCAGTTTATTACCGTAGATATAATTATGGGTCACAGATACA CTTGTATCTATGAAAAGAGATCCAGAGCATTACTATCGTCAAACAGCCAG CTAAAATGAAAATGTAATTGGGATTCTGTGCTCTGAAAAGTGCAGCATAA TTTTATTTCAGTCTATCTCCCTAAGAAAATTCATGAAAGACACTTTGGAC GTTTCATTTAGCTATTTGACAGTAAAGATGAAAACTACATCCAGAAATGA AGAAGAGAACACCAAATCTCAGAAATCTGTTCTACAGAAAAGTTATTGCC AAGTATATTCCTGTCAAAATACTACCTCATTATTCTAAATAACACAGAGG TCTTCATTCTACACTAAGTGTTTCCTTAAATTTTAGGTACAATTCACTAG TTTAAAATGAGCAACTATTCAGGAAATTTGTATGAACAAGTTAAAGGCCT CAATAATACCTAAAAGCAAATCATTTTACTCCCTCTGACATTACCTGATA ATTGTATACAGGGAACTGATATCCAGTGGCGACTTGAAATGGTGAATTTG GATAAGCAGGAAATGCCTGAAAAGAAAGGTTCCAGAAAAAAATGAATACG GTAAACCATTTTTTTAAAATTAGAAAGAAATATAATTCTGAATATAACAA AAATAGGTAAAATATTGTTTTTCTACATACAATAATGCAGAATTCTAAAT GAATGACTGACTTTATGAAGAAAGAAAGATTCTATGACAAGTGCTACACT TTGGGAGTGAAGGGGGAACTAATGACAAAAGAATTGACTATTTCACCAAA GTTTACCTTATACTGTGTACTTATTCACACCCAGAAGTTATTTCTTACAC TGGTGGTAAGGCTCCATTAAGAGAGATTGCAAGGTAAGTTAAATTAATAC ATTTGCTATTTCCCTGTCAGAATATTTCTAGACTGTTTTGTATCAGACAA TATTATAGGACAATATATAGTTTGACAGATGTTATGGCTTTGTCTGTACT TCATTACGAAAAACTAAGTGCAGTCTATAATCCAATACTGGACAAGAGAA AGTATAATGTCTTATATGTTTCAAAAAATTTTTATTATCTGAAAACATAC AGGTAGCAGCATACATGAATACACCCAGATTCAGTAATCGCTCACAGTAA ATGACAGAAACAAGTAAGGCTTTTTTTCTAGCCATTGTTCAGAGAAGGAA AAAGAAGAGGTATACCATACATGTTTCAAGTACATGGAAAATATCACGAA ATTAGAGACAACCGCAGAACTATTTCACTATTATTTTGTTACTACATTTT CCATCAAAGAAAATGTCTTTTAAGCTAACACATCAATGAAATGAACTAAG AAGAATATAAACGTTATTTATCAACAGTAAGTGATAGAG	C C	exon_loss_variant exon_loss_variant	HIGH	HG02055.hp1 HG02258.hp1 HG02717.hp1 others(7): Show HG02055.hp1 HG02258.hp1 HG02717.hp1 HG02895.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0008	10	44	0.2273	-7138	c.859 others(16): Show c.859-823_1075-820del		DAZ3	ENSG00000187191.16	transcript	ENST00000382365.7	protein_coding	14/19					chrY	TogoVar
DAZ4_chrY_24828919_24912040	24861624	GTGAAGTA others(4773): Show GTGAAGTACAGACAAAGCCATAACATCTGTCAGACTATATATTGTCCTAT AATATTGTCTGATACAAAACAGTCTAGAAATATTCTGACAGGGAAATAGC AAATGTATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTACC ACCAGTGTAAGAAATAACTTCTGGGTGTGAATAAGTACACAGTATAAGGT AAACTTTGGTGAAATAGTCAATTCTTTTGTCATTAGTTCCCCCTTCACTC CCAAAGTGTAGCACTTGTCATAGAATCTTTCTTTCTTCATAAAGTCAGTC ATTCATTTAGAATTCTGCATTATTGTATGTAGAAAAACAATATTTTACCT ATTTTTGTTATATTCAGAATTATATTTCTTTCTAATTTTAAAAAAATGGT TTACCGTATTCATTTTTTTCTGGAACCTTTCTTTTCAGGCATTTCCTGCT TATCCAAATTCACCATTTCAAGTCGCCACTGGATATCAGTTCCCTGTATA CAATTATCAGGTAATGTCAGAGGGAGTAAAATGATTTGCTTTTAGGTATT ATTGAGGCCTTTAACTTGTTCATACAAATTTCCTGAATAGTTGCTCATTT TAAACTAGTGAATTGTACCTAAAATTTAAGGAAACACTTAGTGTAGAATG AAGACCTCTGTGTTATTTAGAATAATGAGGTAGTATTTTGACAGGAATAT ACTTGGCAATAACTTTTCTGTAGAACAGATTTCTGAGATTTGGTGTTCTC TTCTTCATTTCTGGATGTAGTTTTCATCTTTACTGTCAAATAGCTAAATG AAACGTCCAAAGTGTCTTTCATGAATTTTCTTAGGGAGATAGACTGAAAT AAAATTATGCTGCACTTTTCAGAGCACAGAATCCCAATTACATTTTCATT TTAGCTGGCTGTTTGACGATAGTAATGCTCTGGATCTCTTTTCATAGATA CAAGTGTATCTGTGACCCATAATTATATCTACGGTAATAAACTGAAAGAG CTAGTATCTTTGAGGTTTCCACATTGCGAAATCCCGAAAATGTGGAGAGA GCTGAAGTTTCCAATGTAAAAGTAACAAGAATGTCATGGACTAGAAACAT AAAGTATTTGAGTTTTCCTTTCTGTTACTTTTATTACAATAAAAAAGGAG ACAGCAGGATAAGTACTTTAATATTGTGTTTCTCATGTGTTTTTGAAAAT GTGTAGTAATACTTCAATAGTTTTGGTTTCCTTTTATTTATTGATTGATT TTTTAAGATTCCACCTTAGGGGCCTGTTGGGTAGCAAAGGGATTATGTTG TCCTTGACGTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTG ATTTTTTTCCATGTCATATATGCCTACAAATATTTTTAAGTGACTTTTTA TGTTAATGTTTTTTTTGTTGTTGTTTCCTTCTTGTTAACCCGATTATAAA CTCCCATGGCAGCAACAGTGCCTTTTTTGTCCTCAGGTTTTTATGTGCTT AAGCAATGGCAGGTCTACATAATGATAGACTATATAATCAAAGAAAGGGA GTATTCACGTGACTTTAGAATTAGCATGTGTCTGCACAGAATATGCCTCT GGCTTTACCAGCAGTAGAAAATTTATAGAAGAGAAACAGAAATGCTTTGC TGTTAATGACGCCTAAATAAGAATAGGAGTAAAGGAGAGTATTACCTCCA AATCACCGGAGCTGCTTTCCCCCTTATAAGCAGTTCCTAAAGTGAATGAA AGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCGGTAAGTTTAGCA GTTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGCCTCCTCATA TAAATTGCTGACTTCTGGATATTTCCTGGTTCTGGAATGGGTAGATTTCT GATGTGGTTTAGTATATATATGTAAACCCCGTGAGCTTCTGGCATCTAAT TTCTCTGATCCTGGTTACATTGATATTTAAAGTAGGGTTTGACATACTCT GTCACCTACTGTTGATAAATAACGTTTATATTCTTCTTAGTTCATTTTAT TGACGTGTTAGCTTTAAAGACATTTTCTTTGACGGAAAATGAAGTAACAA AATAATAGTGAAATAGTTCTGCAGTGTCTCTAATTTGTTGATATTTTCCA TGTACTTGAAACTTGTATGGTATACCTCTTCTTTTTCCTTCTCTGAACAA TGGCTAGAAAAAAAGTCCTACTTTTTTCTGTCATTTACTGTGAGGCATCA CTGATTCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTCAAACAA TAAGAATTTATTGAAACATGTAAGACATTATACTTTCTCTTCTCCAGTAT TGGATCATAGACTGCACTTAGTTTTTCGTAATGAAGTACAGACAAAGCCA TAACATCTGTCGAACTACATATTACCCTATAATATTGTCTGATACAAAAC AGTCTAGAAATATTCTTACAGAGAAATTGCAAATGTATTAATTTAACTTA CCTTGCAATCTCTCTTAATGGAGCCTTACCACCAGTGTAAGAAATAACGT CTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGAAGTAGTCA ATTTTGTCATTTGTTCCCCCTTCACACCCATAGTGTAGCACTTGACCTAG AATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTGGAATTCTGCATTGT TGTACGTAGAAAAAGGATATTTTACCTTTTGTAATATTTTTGTTATATTG GGAATTATGTTTCTTTGTAATTTTAAAAAGTGGTTTACCATATTCATTTT TTTCTGCAACCTTTCTTTTCAGCCATTTCCTGCTTATCCAAGTTCACCAT TTCAGGTCACTGCTGGATATCAGTTGCCTGTATATAATTATCAGGTAATG TAAGAAGGAGTAAAATGATTTACTTTCAGGTATTATTGAGGCATTCAACT TGTTTATACAAATTTCCTGAATAGCTGGTCATTTTAAATTAGTGAAGTGT ACCTAAAATTTAAGGAAACACGTAGAAGTAGTGTAGAATGAAGACCTCTG TCTTATTTAGAAGTAATGAAGTAGTATTTTGAGAGGAATATACTTGGCAA TAACTTTTCTGTAGAAGAGATTTCTGAGATGTGGTGTTCTCTTCTTTATT TCTGGATGCAGTTTTCATCTTTACTGTGAAATAGCTGAATGAAACATCCA AACTGACTTTCATGAATTTTCTTAGGGAGATAGAGTGAAATAAATTTATG CTGCACTTTTCAGAGCACAGAATCCCAATTACATTTTCATTTTAGCTGGC TGTTTGAAGATAGTAATGCTCTGGATCTCTTTTCATAGATACAAGTATAT CTATGACCCATAATTACATCTATGGTAAGAAACTGAAAGAGGTAGTATCT TTGAGGTTTCCACGTTGCCAACTCCCGAAAATTTGGAGAAAGGTGAAGTT TCCAATATAAAAGTAACAAGAATGTCATGGACTAGAAACATAAAGTACTT AAGTTTTCCTTTCTGTTACTTTTATTATAATGAAAAAGGAGACAGCCGGA TAAGTACTTCAATGTTGTATTTCTCATGTGTTTTTGAAAATGTGTAGGAA TACATATAATAGTTTCGGTGTCCTTTTTTTTTCTTTCTTTTTCTTTCTTT TTTTTTTTTAAGATGCCACCATAAGGTCCTGTTGGGGAGCAAAGGATTAT GTTGTCCTTGACGTTAAGTGAATTAGCCAAACATAGATTTCCTGTTCATT CTTGATTTTTTTCCATGTCATATATGCCTATAAATATTTTTAAGTGATTC TTTATATTAATTTTTTTGTTGTTGTTACTTTCTTGTTAACCCGATTATAA ACTCCCATGGGAGCAAGAGTGCCTTTTTTGCCCTCAGGTTTTTATGTGGT TAAGCAATGGCAGGTCCATATAATGACAGACTATATAATCAAAGAAAGGT AGTGTTCATGTGACTTTACAATTAGCATGTATCTGCATAGAATCTGCCTC TGGCTTTACCAGCAATAGAATATTTATAGAAGAGAAACAGAAATGCTTTG CTGTTAATGACGCTTAAATGAGAATAGGAGTAAACGAGAGTATTACCGCC AAATCACCGGAGCTGCTTTCCCCCTTATAACCAGTTCCTAAAGTGAATGA AAGCAGCTCCCCTTATGTGTCTGCCTACTTTATTCTTTGGTAAGTTTAGC AGTTCATCTAGCTATTCTTTATTTGAAATGATTTCCGGATGCCTCCTCAT ATAAATTGCTGACTTCTGGAAATATTCTTCTTCTGGAATGGGTAGATTTC TGATGTGGTTTAGTATATATATAAACCCCGTGAGCTTCTGGCGTCTAATT TCTCTGATTCTGGTTACACTGATATTTAAAGTAGGGTTTGACATACTCCA TCACTTAATGTTGATAACTAACCTTTATATTCTTCTTAGTTCGTTTTATT TATGTGTTAGCTTAAAAGACATTTTCTTTGATGGAAAATGAAGTAACAAA ATAATAGTGAAATAGTTCTGCGGTTGTCTCTAATTTCGTGATATTTTCCA TGTACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTCTCTGAACAA TGGCTAGAAAAAAAGCCTTACTTGTTTCTGTCATTTACTGTGAGCGATTA CTGAATCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTCAGATAA TAAAAATTTTTTGAAACATATAAGACATTATACTTTCTCTTGTCCAGTAT TGGATTATAGACTGCACTTAGTTTTTCGTAA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp1 HG00609.hp1 HG01074.hp2 others(25): Show HG00140.hp1 HG00609.hp1 HG01074.hp2 HG01106.hp1 HG01192.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02258.hp1 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG04199.hp1 NA18522.hp1 NA18982.hp1 NA19000.hp1 NA19007.hp1 NA19070.hp1 NA19072.hp1 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0009	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0006c0010 a0009c0009	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0006c0010t0001 a0009c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0040 a0004c0005t0001g0003 a0004c0005t0001g0006 a0006c0010t0001g0036 a0009c0009t0001g0001	28	35	0.8000	-4780	c.121 others(17): Show c.1210-406_1354-407del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	15/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24871328	CTTCTGGG others(4749): Show CTTCTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGAAATAG TCAATTCTTTTGTCATTAGTTCCCCCTTCACTCCCAAAGTGTAGCACTTG TCATAGAATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTAGAATTCTG CATTATTGTATGTAGAAAAACAATATTTTACCTATTTTTGTTATATTCAG AATTATATTTCTTTCTAATTTTAAAAAAATGGTTTACCGTATTCATTTTT TTCTGGAACCTTTCTTTTCAGGCATTTCCTGCTTATCCAAATTCACCATT TCAAGTCGCCACTGGATATCAGTTCCCTGTATACAATTATCAGGTAATGT CAGAGGGAGTAAAATGATTTGCTTTTAGGTATTATTGAGGCCTTTAACTT GTTCATACAAATTTCCTGAATAGTTGCTCATTTTAAACTAGTGAATTGTA CCTAAAATTTAAGGAAACACTTAGTGTAGAATGAAGACCTCTGTGTTATT TAGAATAATGAGGTAGTATTTTGACAGGAATATACTTGGCAATAACTTTT CTGTAGAACAGATTTCTGAGATTTGGTGTTCTCTTCTTCATTTCTGGATG TAGTTTTCATCTTTACTGTCAAATAGCTAAATGAAACGTCCAAAGTGTCT TTCATGAATTTTCTTAGGGAGATAGACTGAAATAAAATTATGCTGCACTT TTCAGAGCACAGAATCCCAATTACATTTTCATTTTAGCTGGCTGTTTGAC GATAGTAATGCTCTGGATCTCTTTTCATAGATACAAGTGTATCTGTGACC CATAATTATATCTACGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTT TCCACATTGCGAAATCCCGAAAATGTGGAGAAAGCTGAAGTTTCCAATGT AAAAGTAACAAGAATGTCATGGACTAGAAACATAAAGTATTTGAGTTTTC CTTTCTGTTACTTTTATTACAATAAAAAAGGAGACAGCAGGATAAGTACT TTAATATTGTGTTTCTCATGTGTTTTTGAAAATGTGTAGTAATACTTCAA TAGTTTTGGTTTCCTTTTATTTATTGATTGATTTTTTAAGATTCCACCTT AGGGGCCTGTTGGGTAGCAAAGGGATTATGTTGTCCTTGACGTTAAGGGA ATTAGCCAAACATAGACTTCCTGTTCATTCTTGATTTTTTTCCATGTCAT ATATGCCTACAAATATTTTTAAGTGACTTTTTATGTTAATGTTTTTTTTG TTGTTGTTTCCTTCTTGTTAACCCGATTATAAACTCCCATGGCAGCAACA GTGCCTTTTTTGTCCTCAGGTTTTTATGTGCTTAAGCAATGGCAGGTCTA CATAATGATAGACTATATAATCAAAGAAAGGGAGTATTCACGTGACTTTA GAATTAGCATGTGTCTGCACAGAATATGCCTCTGGCTTTACCAGCAGTAG AAAATTTATAGAAGAGAAACAGAAATGCTTTGCTGTTAATGACGCCTAAA TAAGAATAGGAGTAAAGGAGAGTATTACCTCCAACTCACCGGAGCTGCTT TCCCCCTTATAAGCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGT GTCTGCCTACTTTATTCTTCGGTAAGTTTAGCAGTTTATCTAGCTATCCT TTATTTGAAATGATTGCCACATGCCTCCTCATATAAATGGCTGACTTCTG GATATATTCTGGTTCTGGAATGGGCAGATTTCTGACGTGGTTTAGTATAT ATATATAAACCCGGTGAGTTTCTGGCATGTAATTTCTCTGATCGTGGTTA CATTGATATTTAAAGTAGGGTTTGACATAGTGTGTCACTTACTGTTGATA AATATCGTTTATTTTCTTCTTAGTTCATTTCATTGATGTGTTAGCTTAAA AGACATTTTCTTTGACAGAAAATGAAGTAATGAAATAATAGTGAAATCGT TCTGCTGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTA TGGTATACCTCTTCTTTTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCC CTACTTGTTTCTCTCGTTTACTGTGAGGCATTAGTGATTCTGGGTGTATT CATGTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTGTTGAAAC ATGTCAGACATTATACTTTTTATTCTCCAGTATTGGAATATAGACTGCAA TTAGTTTTTTGGAATGAAATACAGACAAAGCCATAACATCTATAGAACTA CATATTACCCTACAATATTGTCTGATACAAAACAGTCTGGAAATATTCTT ACAGCGAAATTGCAAATGTATTGATTTACCTTACATTGCAATCTGTCTTA GTGGAACCTTATCACCAGTGTAAGACATAATTTCTGGGTGTGAATAAGTA CACAGTATAAGGTAAATTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTT CCCCCTTCACACCCAAAGTGTAGCACTTGACATAGAATCTTTCTTTCCTC ATAAAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAAGGATA TTTTCCGTTTTGTAATATTTTTCTTATATTGGGAATTATATTTCTTTCTA ATTTTAAAATGTGGTTTACCATATTCATTTTTTCTGCAACCTTTTCAGGC ATTTCCTGCTTATCCAAATTCACCAGTTCAGGTCACCACTGGATATCAGT TGCCTGTATACAATTATCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCT TTCAGGTATTATTGAGGCCTTTAACTTGTTTATAGAAATTTCCTGAATAG TTGGTCATTTTTAACTAGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTA GTGTAGAATGAAGACCTCTGTCTTATTTAGAAGTAATGAAGTAATATTTT TACAGGAATATCCTTGGCAATAACATTTGTGTAGAAGAGATTTCTGAGAT TTGGTGTCCCCTTCTTCATTTGTGGATATAGTTTTCATCTTTGCTGTCAA ATAGCTGAATGAAACATCCAAACTGACTTTCATGAATTTTTTTAGGGAGA TAGAGTGAAATAAAATTATGATCCACTTTTCAGAGCACAGAATTCCAATT ATATTTTCATTTTAGCTGGCTGTTTGACGGTAGTCATTCTCAGGATCTCT TCTCATAGATACAAGTATATCTATGACCCATAACTATATCTATGGTAATA AACTGAAAGAGCTAGTATTTTTGAGGTTTCCACATTGCCAACTCCCAAAA ATTTGGAGAAAGGTGAAGATTCAAATTTAAAGTAACAAGAATGTCATGGA CAAGAAACATAAAGTACTTAAGTTTTCCTTTCTGTTACTTTTATTATAAT AAAAAAGGAGACAGCGGAATAAGTACTTCAATACTGTGTTTCTCATGTGT GTTTGAAAATATGTAGGAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTT TTTTTTTTTTAAAGATGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGAT TATGTTGTCCTTGACGTTAAGGGAATTAGCCAAACATAGACTTCCTGTTC ATTCTTGATTTTTTTTCCATGTCATATATGCCTATAAATATTTTTAAGTG ACTCTCTATATTAATGTTTGTTGTTGTTGTTGTTACTTTCTTGTTAACCC GAGTATAAACTCCCATGGCAGCAACAGTGCCTTTTTTGCCCTCAGGGTTT TATGTGCTTAAGCAATGGCAGCTCCACATAATGATAGACTATATAATCAA AGAAAGGTAATATTCACGTGACTTTAGAATTAGCATGTAGCTGCATAGAA TCTGCCTCTGGCTTTACCAGCAGTAGTAAATTTATAGAAGAGAAACAGAA ATGCTTTGCTGTTAATTATGCTTAAATAAGAATAGAAGTAAAGGAGAGTA TTACCTGCAAATCACCAGAGCAGCTTTCCCCCGTATAAGCAGTTCCTAAA GTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCCGTA AGTTTAGCAATTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGC CTCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCTGGAATGGG TAGATTTCTGATGTGATTTAGTATATATATATAAACCGCTTGAGTTTCTG GCATCTAATTTCTCTGATCCTGGTGACATTGATATTTAAAGTAGGGTTTG ACATACTCTATCACTTACTGTTGATAAATAACGTTTATATTCTTCTTAGT TCATTTCATTGATGTGTTAGCTTAAAAGACATTTTCTTTGATGGAAAATG TAGTAACAAAATAATAGTGAAATAGTTCTGCAGTGTTTCTAATTTGTTGA TATTTTCCATGTACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTC TCTGAACCATGGCTAGAAAAAAAGCCCTACTTGTTTCTCTCGTTTACTGT GAGGCATTAGTGATTCTGGGTGTATTCATGTATGCTGCTACCTGTATGTT TTCAAACAATAAGAATTTGTTGAAACATGTCAGACATTATACTTTTTATT CTCCAGTATTGGAATATAGACTGCAATTAGTTTTTTGGAATGAAATACAG ACAAAGCCATAACATCTATAGAACTACATATTACCCTACAATATTGTCTG ATACAAAACAGTCTGGAAATATTCTTACAGCGAAATTGCAAATGTATTGA TTTACCTTACATTGCAATCTGTCTTAGTGGAACCTTATCACCAGTGTAAG ACATAAT	C C	exon_loss_variant exon_loss_variant	HIGH	HG01106.hp1 HG02055.hp1 HG02258.hp1 others(5): Show HG01106.hp1 HG02055.hp1 HG02258.hp1 HG02895.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 others(5): Show a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0040	8	40	0.2000	-4756	c.149 others(18): Show c.1498-225_1641+2082del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	19/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DCANP1_chr5_135439214_135452348	135446760	T T	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(17): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 a0001c0001t0012g0000 a0001c0001t0014g0000 a0001c0001t0016g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0026g0000 a0001c0001t0027g0000	268	454	0.5903	0	c.349 others(3): Show c.349A>T	p.Arg others(4): Show p.Arg117*	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	589/3135	349/735	117/244		chr5	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0003c0006 others(2): Show a0002c0002 a0003c0003 a0003c0006 a0003c0009 a0004c0004	a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0009t0001 a0004c0004t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(16): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0014 a0003c0003t0001g0004 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0015 a0003c0003t0001g0017 a0003c0003t0001g0020 a0003c0006t0001g0005 a0003c0009t0001g0009 a0004c0004t0001g0005 a0004c0004t0001g0019	232	458	0.5066	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DEPP1_chr10_44971128_44983809	44977450	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG00642.hp1 HG00735.hp1 others(25): Show HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01261.hp1 HG01993.hp2 HG02055.hp2 HG02083.hp1 HG02155.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03831.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18978.hp1 NA18978.hp2 NA18994.hp1 NA19055.hp2 NA19066.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 others(3): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0009 a0002c0003t0010 a0002c0004t0001	a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0022 others(6): Show a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0022 a0002c0003t0002g0007 a0002c0003t0005g0027 a0002c0003t0005g0034 a0002c0003t0009g0028 a0002c0003t0010g0037 a0002c0004t0001g0008	28	421	0.0665	1	c.580 others(4): Show c.580dupC	p.Arg others(5): Show p.Arg194fs	DEPP1	ENSG00000165507.9	transcript	ENST00000298295.4	protein_coding	2/2	797/2120	580/639	194/212		chr10	TogoVar
DFFA_chr1_10451522_10477529	10472433	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0006 others(5): Show a0002c0002 a0002c0004 a0002c0006 a0002c0007 a0002c0008 a0002c0011 a0002c0012 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(57): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0029 a0002c0002t0030 a0002c0002t0033 a0002c0002t0036 a0002c0002t0042 a0002c0002t0048 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0064 a0002c0002t0066 a0002c0002t0074 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0086 a0002c0002t0087 a0002c0002t0090 a0002c0002t0095 a0002c0002t0100 a0002c0002t0106 a0002c0002t0107 a0002c0002t0110 a0002c0002t0111 a0002c0004t0009 a0002c0004t0022 a0002c0004t0023 a0002c0004t0034 a0002c0004t0041 a0002c0004t0069 a0002c0004t0103 a0002c0006t0008 a0002c0006t0037 a0002c0007t0016 a0002c0008t0020 a0002c0008t0061 a0002c0011t0032 a0002c0012t0001 a0002c0013t0006	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(124): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0031 a0002c0002t0002g0060 a0002c0002t0002g0070 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0134 a0002c0002t0002g0139 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0085 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0130 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0140 a0002c0002t0004g0007 a0002c0002t0004g0021 a0002c0002t0005g0027 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0068 a0002c0002t0006g0110 a0002c0002t0006g0113 a0002c0002t0006g0121 a0002c0002t0007g0145 a0002c0002t0009g0057 a0002c0002t0010g0029 a0002c0002t0010g0128 a0002c0002t0011g0018 a0002c0002t0012g0030 a0002c0002t0012g0105 a0002c0002t0013g0075 a0002c0002t0013g0077 a0002c0002t0013g0132 a0002c0002t0014g0119 a0002c0002t0015g0074 a0002c0002t0015g0097 a0002c0002t0018g0071 a0002c0002t0018g0073 a0002c0002t0019g0032 a0002c0002t0024g0120 a0002c0002t0025g0086 a0002c0002t0026g0028 a0002c0002t0029g0100 a0002c0002t0030g0050 a0002c0002t0030g0152 a0002c0002t0033g0135 a0002c0002t0036g0083 a0002c0002t0042g0066 a0002c0002t0048g0131 a0002c0002t0057g0117 a0002c0002t0058g0127 a0002c0002t0060g0118 a0002c0002t0064g0092 a0002c0002t0066g0142 a0002c0002t0074g0098 a0002c0002t0076g0149 a0002c0002t0078g0151 a0002c0002t0079g0148 a0002c0002t0080g0112 a0002c0002t0081g0125 a0002c0002t0086g0099 a0002c0002t0087g0072 a0002c0002t0090g0059 a0002c0002t0095g0144 a0002c0002t0100g0069 a0002c0002t0106g0147 a0002c0002t0107g0133 a0002c0002t0110g0090 a0002c0002t0111g0084 a0002c0004t0009g0025 a0002c0004t0022g0052 a0002c0004t0023g0054 a0002c0004t0034g0055 a0002c0004t0041g0053 a0002c0004t0069g0051 a0002c0004t0103g0056 a0002c0006t0008g0026 a0002c0006t0037g0058 a0002c0007t0016g0019 a0002c0008t0020g0153 a0002c0008t0020g0154 a0002c0008t0061g0049 a0002c0011t0032g0067 a0002c0012t0001g0109 a0002c0013t0006g0116	195	436	0.4472	1	c.25d others(3): Show c.25dupG	p.Val others(3): Show p.Val9fs	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding	1/6	96/6035	25/996	9/331		chr1	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(2): Show CTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp2 HG03704.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18950.hp1 NA18965.hp2 NA18980.hp2 NA18981.hp2 NA18993.hp1 NA18998.hp1 NA19011.hp1 NA19063.hp2 NA19064.hp1 NA19084.hp1 NA19085.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0024 a0002c0022 a0003c0007 a0007c0023	a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 others(40): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0077 a0001c0001t0078 a0001c0002t0001 a0001c0002t0024 a0001c0002t0028 a0001c0002t0042 a0001c0003t0006 a0001c0003t0010 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0110 a0001c0003t0111 a0001c0003t0115 a0001c0003t0116 a0001c0004t0008 a0001c0004t0025 a0001c0004t0026 a0001c0004t0094 a0001c0004t0118 a0001c0004t0123 a0001c0008t0098 a0001c0024t0027 a0002c0022t0008 a0003c0007t0009 a0007c0023t0113	a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 others(66): Show a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0257 a0001c0001t0015g0036 a0001c0001t0015g0164 a0001c0001t0015g0167 a0001c0001t0020g0296 a0001c0001t0029g0289 a0001c0001t0031g0039 a0001c0001t0031g0152 a0001c0001t0032g0042 a0001c0001t0032g0055 a0001c0001t0056g0046 a0001c0001t0058g0153 a0001c0001t0059g0314 a0001c0001t0060g0041 a0001c0001t0061g0284 a0001c0001t0062g0096 a0001c0001t0063g0154 a0001c0001t0064g0095 a0001c0001t0077g0057 a0001c0001t0078g0165 a0001c0002t0001g0011 a0001c0002t0001g0251 a0001c0002t0001g0283 a0001c0002t0024g0003 a0001c0002t0024g0004 a0001c0002t0024g0007 a0001c0002t0028g0006 a0001c0002t0028g0050 a0001c0002t0042g0014 a0001c0003t0006g0261 a0001c0003t0010g0017 a0001c0003t0010g0162 a0001c0003t0010g0198 a0001c0003t0010g0201 a0001c0003t0025g0139 a0001c0003t0025g0186 a0001c0003t0038g0134 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0155 a0001c0003t0110g0080 a0001c0003t0111g0136 a0001c0003t0115g0202 a0001c0003t0116g0200 a0001c0004t0008g0278 a0001c0004t0025g0213 a0001c0004t0026g0028 a0001c0004t0094g0212 a0001c0004t0118g0013 a0001c0004t0123g0061 a0001c0008t0098g0195 a0001c0024t0027g0033 a0002c0022t0008g0161 a0003c0007t0009g0248 a0007c0023t0113g0156	69	83	0.8313	9	c.623 others(21): Show c.623-11_623-3dupTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(76): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG02976.hp1 HG03486.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0002c0005 a0006c0017 a0008c0019 a0011c0028 a0013c0030	a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 others(31): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0018 a0001c0002t0020 a0001c0002t0023 a0001c0002t0066 a0001c0002t0096 a0001c0002t0097 a0001c0002t0102 a0001c0003t0006 a0001c0003t0013 a0001c0003t0050 a0001c0003t0106 a0001c0003t0124 a0001c0004t0047 a0001c0004t0075 a0001c0006t0001 a0001c0006t0004 a0001c0006t0022 a0001c0006t0036 a0001c0013t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0007 a0002c0005t0008 a0002c0005t0037 a0002c0005t0105 a0006c0017t0041 a0008c0019t0047 a0011c0028t0001 a0013c0030t0018	a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 others(76): Show a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0183 a0001c0002t0001g0191 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0004g0169 a0001c0002t0005g0229 a0001c0002t0012g0073 a0001c0002t0012g0203 a0001c0002t0018g0126 a0001c0002t0018g0171 a0001c0002t0020g0124 a0001c0002t0020g0125 a0001c0002t0023g0119 a0001c0002t0066g0176 a0001c0002t0096g0060 a0001c0002t0097g0306 a0001c0002t0102g0185 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0013g0015 a0001c0003t0050g0311 a0001c0003t0106g0133 a0001c0003t0124g0236 a0001c0004t0047g0112 a0001c0004t0075g0184 a0001c0006t0001g0105 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0106 a0001c0006t0022g0107 a0001c0006t0022g0108 a0001c0006t0022g0285 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0013t0001g0231 a0002c0005t0001g0053 a0002c0005t0001g0100 a0002c0005t0001g0101 a0002c0005t0001g0109 a0002c0005t0001g0110 a0002c0005t0001g0116 a0002c0005t0001g0138 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0001g0291 a0002c0005t0003g0117 a0002c0005t0007g0045 a0002c0005t0007g0122 a0002c0005t0007g0128 a0002c0005t0007g0135 a0002c0005t0007g0137 a0002c0005t0008g0290 a0002c0005t0037g0292 a0002c0005t0105g0240 a0006c0017t0041g0121 a0008c0019t0047g0145 a0011c0028t0001g0054 a0013c0030t0018g0088	79	93	0.8495	11	c.623 others(23): Show c.623-13_623-3dupTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DIAPH2_chrX_96679842_97609997	96916417	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19056.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(53): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0140 a0001c0001t0003g0006 a0001c0001t0003g0049 a0001c0001t0004g0149 a0001c0001t0005g0038 a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0007g0005 a0001c0001t0008g0040 a0001c0001t0008g0108 a0001c0001t0009g0042 a0001c0001t0010g0034 a0001c0001t0010g0104 a0001c0001t0011g0039 a0001c0001t0012g0003 a0001c0001t0012g0145 a0001c0001t0013g0013 a0001c0001t0014g0146 a0001c0001t0017g0106 a0001c0001t0018g0148 a0001c0001t0019g0143 a0001c0001t0021g0114 a0001c0003t0001g0116 a0001c0004t0001g0142	56	139	0.4029	1	c.733 others(6): Show c.733-3dupT		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	7/26				INFO_REALIGN_3_PRIME	chrX	TogoVar
DMBT1_chr10_122555754_122648736	122602824	TTAAGATG others(8111): Show TTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGC GCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGC CTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCC CTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATT TCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGAT CTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCA GCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTG CCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGG ATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACAT GGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGG AAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACAT CACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGT TTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGG TCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATG GAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAA GTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTT GAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCA TCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCT TATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGC CTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAA AGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTG GCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCT TGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGAT TTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCC TGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTA AAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGAT AAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGAC AGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCA TGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCT GTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACA CATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCA TGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAG TGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATA TAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTC AGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATT ATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAG GGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGA TTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGC CAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCA TCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAA GATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGA CCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATG GGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCC CCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCT GTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCAT CAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCT GGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCC TCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGA GGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGT CTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTG CTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCT GGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCA GTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAG AAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGG GTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAG AGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATG CTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACT TTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCAT GACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTT GCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGA GATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGG CCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTC CTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAA TGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAG CCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGAT GATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAA TGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCT GCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTT GCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGA TTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGA ATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGA CAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGC AGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCAT TTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAG ACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAA GATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTG GAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATC AGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAA CGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCC CATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGA AGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACT CAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGG TTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGAC AGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATG GCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGAC TCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAAC ATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGC CGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTT CTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTC TCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGT ATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGA AATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGG GGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAA CCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATA GGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACA AGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATT GCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAG ACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCA ATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTAT TTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCAT TTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTT GCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAG AGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGT TATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAG TGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATC ACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATT AAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGG GGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGC AGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAAT AAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCC GGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTT GAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCT CAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGG TTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGG ACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAA GGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAAT TCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTG CTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCA GAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACAT TTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCA GTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAAC AGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCT CCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGA AGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGG TGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAG TCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCT CACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTC ACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAG GTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGG AATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCT GGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTC ATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGAC CTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTG AAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCA AATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAAT TCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTG TGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGG TCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAG GGCATCACTTTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATC TTCCATCATGACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTT GACTACTTTGCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCT CATATTTGAGATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAAT CCAGTTTGGCCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGA GTGGAGGTCCTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTG GGACACCAATGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGG CCACGTCAGCCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATT GTCCTGGATGATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTG CCCCCACAATGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTG GTGTCATCTGCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGG TTGGAGTTTGCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGA ACTCACAGATTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCC CTGCTAAGAATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGT CACTTAGGACAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCT TCCTGAGGCAGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCA GGGCTCCATTTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGAC ATAGGACAGACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTC TGAACCAAAGATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGA GGAGGTCTGGAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCT GGTTCTATCAGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTC CTCTCAGAACGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAG GGCAGCCCCCATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTC GGGGCTTGAAGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCC TTGCTGACTCAGGAACACC	T T	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(17): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01243.hp1 HG01517.hp1 HG01517.hp2 HG02055.hp1 HG02683.hp2 HG02698.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03942.hp2 HG06807.hp2 NA18944.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0037	a0001c0002 a0001c0036 a0002c0008 others(5): Show a0001c0002 a0001c0036 a0002c0008 a0005c0006 a0005c0022 a0007c0010 a0007c0021 a0037c0037	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(7): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0036t0002 a0002c0008t0002 a0005c0006t0003 a0005c0022t0002 a0007c0010t0002 a0007c0021t0001 a0037c0037t0003	a0001c0002t0001g0019 a0001c0002t0001g0133 a0001c0002t0003g0132 others(13): Show a0001c0002t0001g0019 a0001c0002t0001g0133 a0001c0002t0003g0132 a0001c0002t0003g0242 a0001c0002t0004g0206 a0001c0036t0002g0186 a0002c0008t0002g0212 a0005c0006t0003g0004 a0005c0006t0003g0060 a0005c0006t0003g0084 a0005c0022t0002g0086 a0007c0010t0002g0012 a0007c0010t0002g0080 a0007c0010t0002g0082 a0007c0021t0001g0083 a0037c0037t0003g0111	20	227	0.0881	-8118	c.408 others(15): Show c.4085-84_4859-86del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	34/56				INFO_REALIGN_3_PRIME	chr10	TogoVar
DNAAF4_chr15_55425308_55513234	55430684	C C	A A	stop_gained stop_gained	HIGH	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(50): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18989.hp1 NA19030.hp1 NA19240.hp2 NA20805.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0004c0007 a0005c0004 a0004c0005 a0004c0007 a0005c0004	a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 others(5): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0007t0003 a0005c0004t0003 a0005c0004t0005	a0004c0005t0001g0123 a0004c0005t0001g0211 a0004c0005t0001g0295 others(50): Show a0004c0005t0001g0123 a0004c0005t0001g0211 a0004c0005t0001g0295 a0004c0005t0002g0273 a0004c0005t0002g0274 a0004c0005t0002g0275 a0004c0005t0002g0276 a0004c0005t0002g0277 a0004c0005t0002g0278 a0004c0005t0002g0279 a0004c0005t0002g0280 a0004c0005t0002g0281 a0004c0005t0003g0253 a0004c0005t0003g0254 a0004c0005t0003g0255 a0004c0005t0003g0297 a0004c0005t0003g0299 a0004c0005t0003g0300 a0004c0005t0003g0301 a0004c0005t0003g0302 a0004c0005t0005g0285 a0004c0005t0005g0286 a0004c0005t0005g0287 a0004c0005t0005g0288 a0004c0005t0007g0284 a0004c0005t0007g0289 a0004c0007t0003g0298 a0005c0004t0003g0067 a0005c0004t0003g0257 a0005c0004t0003g0258 a0005c0004t0003g0259 a0005c0004t0003g0282 a0005c0004t0003g0283 a0005c0004t0003g0319 a0005c0004t0003g0320 a0005c0004t0003g0321 a0005c0004t0003g0322 a0005c0004t0003g0323 a0005c0004t0003g0324 a0005c0004t0003g0325 a0005c0004t0003g0326 a0005c0004t0003g0327 a0005c0004t0003g0328 a0005c0004t0003g0329 a0005c0004t0003g0330 a0005c0004t0003g0331 a0005c0004t0003g0332 a0005c0004t0003g0333 a0005c0004t0003g0334 a0005c0004t0003g0335 a0005c0004t0003g0336 a0005c0004t0003g0337 a0005c0004t0005g0256	53	336	0.1577	0	c.124 others(4): Show c.1249G>T	p.Glu others(4): Show p.Glu417*	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	10/10	1617/1993	1249/1263	417/420		chr15	TogoVar
DNAH11_chr7_21538039_21906839	21543345	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18992.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0006 a0007 a0011 others(81): Show a0006 a0007 a0011 a0013 a0018 a0020 a0021 a0024 a0027 a0029 a0030 a0031 a0037 a0038 a0039 a0041 a0043 a0045 a0048 a0050 a0055 a0058 a0059 a0062 a0064 a0069 a0070 a0071 a0072 a0074 a0077 a0078 a0079 a0080 a0082 a0083 a0090 a0091 a0097 a0100 a0106 a0111 a0112 a0117 a0118 a0120 a0121 a0122 a0123 a0124 a0126 a0128 a0129 a0131 a0135 a0136 a0138 a0140 a0141 a0142 a0143 a0145 a0146 a0149 a0154 a0156 a0160 a0165 a0167 a0169 a0172 a0180 a0183 a0185 a0187 a0189 a0194 a0208 a0210 a0214 a0217 a0219 a0221 a0224	a0006c0214 a0006c0262 a0006c0266 others(98): Show a0006c0214 a0006c0262 a0006c0266 a0006c0272 a0007c0210 a0007c0212 a0007c0217 a0007c0270 a0011c0016 a0011c0199 a0013c0268 a0013c0271 a0013c0277 a0018c0017 a0018c0202 a0020c0224 a0020c0226 a0021c0244 a0021c0267 a0024c0218 a0024c0263 a0027c0019 a0029c0018 a0030c0021 a0031c0229 a0031c0237 a0037c0198 a0037c0203 a0038c0020 a0039c0253 a0039c0254 a0041c0222 a0041c0223 a0043c0264 a0045c0234 a0048c0233 a0050c0274 a0055c0191 a0058c0219 a0059c0273 a0062c0193 a0064c0197 a0069c0247 a0070c0236 a0071c0238 a0072c0189 a0074c0215 a0077c0187 a0078c0265 a0079c0269 a0080c0227 a0082c0200 a0083c0228 a0090c0239 a0091c0243 a0097c0216 a0100c0276 a0106c0220 a0111c0241 a0112c0192 a0117c0196 a0118c0251 a0120c0245 a0121c0190 a0122c0256 a0123c0246 a0124c0257 a0126c0232 a0128c0248 a0129c0183 a0131c0201 a0135c0221 a0136c0261 a0138c0258 a0140c0185 a0141c0240 a0142c0211 a0143c0194 a0145c0186 a0146c0259 a0149c0260 a0154c0250 a0156c0184 a0160c0231 a0165c0205 a0167c0188 a0169c0206 a0172c0255 a0180c0225 a0183c0249 a0185c0213 a0187c0230 a0189c0209 a0194c0207 a0208c0204 a0210c0195 a0214c0275 a0217c0242 a0219c0208 a0221c0252 a0224c0235	a0006c0214t0006 a0006c0262t0001 a0006c0266t0005 others(99): Show a0006c0214t0006 a0006c0262t0001 a0006c0266t0005 a0006c0272t0001 a0007c0210t0001 a0007c0212t0001 a0007c0217t0001 a0007c0270t0006 a0011c0016t0003 a0011c0199t0003 a0013c0268t0002 a0013c0271t0002 a0013c0277t0002 a0018c0017t0011 a0018c0202t0006 a0020c0224t0001 a0020c0226t0001 a0021c0244t0003 a0021c0267t0005 a0024c0218t0002 a0024c0263t0002 a0027c0019t0003 a0029c0018t0001 a0030c0021t0002 a0030c0021t0004 a0031c0229t0005 a0031c0237t0005 a0037c0198t0002 a0037c0203t0002 a0038c0020t0006 a0039c0253t0003 a0039c0254t0003 a0041c0222t0002 a0041c0223t0002 a0043c0264t0005 a0045c0234t0005 a0048c0233t0002 a0050c0274t0003 a0055c0191t0003 a0058c0219t0001 a0059c0273t0016 a0062c0193t0004 a0064c0197t0004 a0069c0247t0002 a0070c0236t0002 a0071c0238t0003 a0072c0189t0019 a0074c0215t0003 a0077c0187t0022 a0078c0265t0003 a0079c0269t0004 a0080c0227t0003 a0082c0200t0001 a0083c0228t0003 a0090c0239t0003 a0091c0243t0002 a0097c0216t0003 a0100c0276t0012 a0106c0220t0001 a0111c0241t0001 a0112c0192t0005 a0117c0196t0021 a0118c0251t0004 a0120c0245t0005 a0121c0190t0024 a0122c0256t0007 a0123c0246t0001 a0124c0257t0007 a0126c0232t0003 a0128c0248t0001 a0129c0183t0004 a0131c0201t0003 a0135c0221t0001 a0136c0261t0007 a0138c0258t0007 a0140c0185t0001 a0141c0240t0004 a0142c0211t0001 a0143c0194t0001 a0145c0186t0001 a0146c0259t0007 a0149c0260t0015 a0154c0250t0002 a0156c0184t0001 a0160c0231t0005 a0165c0205t0001 a0167c0188t0003 a0169c0206t0004 a0172c0255t0002 a0180c0225t0002 a0183c0249t0002 a0185c0213t0003 a0187c0230t0010 a0189c0209t0002 a0194c0207t0002 a0208c0204t0002 a0210c0195t0002 a0214c0275t0002 a0217c0242t0001 a0219c0208t0006 a0221c0252t0001 a0224c0235t0001	a0006c0214t0006g0174 a0006c0262t0001g0139 a0006c0266t0005g0137 others(104): Show a0006c0214t0006g0174 a0006c0262t0001g0139 a0006c0266t0005g0137 a0006c0272t0001g0185 a0007c0210t0001g0209 a0007c0212t0001g0214 a0007c0217t0001g0182 a0007c0270t0006g0148 a0011c0016t0003g0171 a0011c0016t0003g0172 a0011c0199t0003g0141 a0013c0268t0002g0150 a0013c0271t0002g0153 a0013c0277t0002g0155 a0018c0017t0011g0169 a0018c0017t0011g0170 a0018c0202t0006g0162 a0020c0224t0001g0218 a0020c0226t0001g0136 a0021c0244t0003g0180 a0021c0267t0005g0186 a0024c0218t0002g0130 a0024c0263t0002g0140 a0027c0019t0003g0156 a0027c0019t0003g0190 a0029c0018t0001g0128 a0029c0018t0001g0157 a0030c0021t0002g0144 a0030c0021t0004g0152 a0031c0229t0005g0207 a0031c0237t0005g0201 a0037c0198t0002g0143 a0037c0203t0002g0161 a0038c0020t0006g0138 a0038c0020t0006g0145 a0039c0253t0003g0179 a0039c0254t0003g0177 a0041c0222t0002g0181 a0041c0223t0002g0178 a0043c0264t0005g0146 a0045c0234t0005g0212 a0048c0233t0002g0205 a0050c0274t0003g0184 a0055c0191t0003g0189 a0058c0219t0001g0223 a0059c0273t0016g0149 a0062c0193t0004g0188 a0064c0197t0004g0175 a0069c0247t0002g0166 a0070c0236t0002g0213 a0071c0238t0003g0193 a0072c0189t0019g0196 a0074c0215t0003g0202 a0077c0187t0022g0187 a0078c0265t0003g0147 a0079c0269t0004g0151 a0080c0227t0003g0135 a0082c0200t0001g0134 a0083c0228t0003g0191 a0090c0239t0003g0216 a0091c0243t0002g0195 a0097c0216t0003g0158 a0100c0276t0012g0154 a0106c0220t0001g0200 a0111c0241t0001g0194 a0112c0192t0005g0197 a0117c0196t0021g0168 a0118c0251t0004g0198 a0120c0245t0005g0127 a0121c0190t0024g0219 a0122c0256t0007g0221 a0123c0246t0001g0232 a0124c0257t0007g0222 a0126c0232t0003g0208 a0128c0248t0001g0231 a0129c0183t0004g0211 a0131c0201t0003g0131 a0135c0221t0001g0233 a0136c0261t0007g0227 a0138c0258t0007g0228 a0140c0185t0001g0224 a0141c0240t0004g0132 a0142c0211t0001g0230 a0143c0194t0001g0159 a0145c0186t0001g0210 a0146c0259t0007g0220 a0149c0260t0015g0226 a0154c0250t0002g0133 a0156c0184t0001g0225 a0160c0231t0005g0192 a0165c0205t0001g0229 a0167c0188t0003g0215 a0169c0206t0004g0173 a0172c0255t0002g0160 a0180c0225t0002g0204 a0183c0249t0002g0217 a0185c0213t0003g0142 a0187c0230t0010g0203 a0189c0209t0002g0163 a0194c0207t0002g0165 a0208c0204t0002g0164 a0210c0195t0002g0167 a0214c0275t0002g0183 a0217c0242t0001g0129 a0219c0208t0006g0176 a0221c0252t0001g0199 a0224c0235t0001g0206	107	296	0.3615	0	c.100 others(3): Show c.100G>T	p.Glu others(3): Show p.Glu34*	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	1/82	307/14343	100/13551	34/4516		chr7	TogoVar
DPP7_chr9_137105546_137119733	137110665	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01243.hp2 HG01891.hp1 HG02055.hp2 others(12): Show HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG06807.hp1	a0003 a0003	a0003c0005 a0003c0021 a0003c0023 a0003c0005 a0003c0021 a0003c0023	a0003c0005t0001 a0003c0021t0001 a0003c0023t0001 a0003c0005t0001 a0003c0021t0001 a0003c0023t0001	a0003c0005t0001g0009 a0003c0005t0001g0059 a0003c0021t0001g0071 others(1): Show a0003c0005t0001g0009 a0003c0005t0001g0059 a0003c0021t0001g0071 a0003c0023t0001g0072	15	452	0.0332	1	c.146 others(5): Show c.1461dupG	p.Pro others(5): Show p.Pro488fs	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	13/13	1481/1601	1461/1479	487/492		chr9	TogoVar
DRD4_chr11_632269_645706	639791	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00642.hp2 HG01109.hp2 others(10): Show HG00544.hp1 HG00642.hp2 HG01109.hp2 HG01361.hp2 HG01928.hp1 HG02055.hp1 HG02738.hp1 HG03688.hp1 NA18950.hp2 NA18967.hp2 NA19030.hp2 NA19075.hp2 NA19077.hp1	a0004 a0014 a0004 a0014	a0004c0005 a0004c0007 a0004c0034 others(1): Show a0004c0005 a0004c0007 a0004c0034 a0014c0019	a0004c0005t0001 a0004c0005t0002 a0004c0007t0001 others(2): Show a0004c0005t0001 a0004c0005t0002 a0004c0007t0001 a0004c0034t0001 a0014c0019t0001	a0004c0005t0001g0001 a0004c0005t0001g0003 a0004c0005t0001g0005 others(7): Show a0004c0005t0001g0001 a0004c0005t0001g0003 a0004c0005t0001g0005 a0004c0005t0001g0006 a0004c0005t0001g0019 a0004c0005t0002g0007 a0004c0007t0001g0002 a0004c0007t0001g0010 a0004c0034t0001g0057 a0014c0019t0001g0007	13	420	0.0310	1	c.546 others(4): Show c.546dupC	p.Ala others(5): Show p.Ala183fs	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	583/1399	547/1260	183/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DTNBP1_chr6_15517807_15668028	15533238	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01255.hp1 HG02055.hp2 HG02280.hp2 others(8): Show HG01255.hp1 HG02055.hp2 HG02280.hp2 HG02572.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03579.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005	a0001c0001t0003g0291 a0002c0002t0001g0258 a0002c0002t0001g0259 others(8): Show a0001c0001t0003g0291 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0296 a0002c0002t0003g0297 a0002c0002t0005g0261 a0002c0002t0005g0262	11	312	0.0353	0	c.667 others(5): Show c.667+2C>T		DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	8/9					chr6	TogoVar
DTX2_chr7_76456709_76510991	76482880	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG01243.hp2 HG02055.hp1 others(7): Show HG00621.hp2 HG01243.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02148.hp1 HG02523.hp2 HG03927.hp2 NA18960.hp2 NA19068.hp1	a0004 a0004	a0004c0009 a0004c0014 a0004c0025 others(3): Show a0004c0009 a0004c0014 a0004c0025 a0004c0026 a0004c0027 a0004c0033	a0004c0009t0002 a0004c0009t0008 a0004c0014t0001 others(4): Show a0004c0009t0002 a0004c0009t0008 a0004c0014t0001 a0004c0025t0001 a0004c0026t0001 a0004c0027t0001 a0004c0033t0001	a0004c0009t0002g0095 a0004c0009t0002g0162 a0004c0009t0002g0164 others(7): Show a0004c0009t0002g0095 a0004c0009t0002g0162 a0004c0009t0002g0164 a0004c0009t0002g0172 a0004c0009t0008g0060 a0004c0014t0001g0212 a0004c0025t0001g0143 a0004c0026t0001g0269 a0004c0027t0001g0139 a0004c0033t0001g0234	10	277	0.0361	1	c.643 others(4): Show c.643dupC	p.Arg others(5): Show p.Arg215fs	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/11	1026/2641	644/1869	215/622	INFO_REALIGN_3_PRIME	chr7	TogoVar
DUSP15_chr20_31856077_31875527	31861645	C C	A A	stop_gained stop_gained	HIGH	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0075 a0003c0007t0001g0075	1	375	0.0027	0	c.466 others(3): Show c.466G>T	p.Glu others(4): Show p.Glu156*	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding	7/7	656/1224	466/708	156/235		chr20	TogoVar
DYNLT5_chr1_66747459_66784047	66776404	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG01070.hp2 HG01168.hp1 HG01517.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp2 NA18948.hp1 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp2 NA19012.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0010 a0003c0003t0021 a0003c0003t0002 a0003c0003t0010 a0003c0003t0021	a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0012 others(29): Show a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0012 a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0003t0002g0037 a0003c0003t0002g0040 a0003c0003t0002g0043 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0100 a0003c0003t0002g0101 a0003c0003t0002g0108 a0003c0003t0002g0112 a0003c0003t0002g0123 a0003c0003t0002g0131 a0003c0003t0002g0160 a0003c0003t0002g0163 a0003c0003t0010g0008 a0003c0003t0010g0096 a0003c0003t0021g0095	55	400	0.1375	0	c.336 others(5): Show c.336+1G>A		DYNLT5	ENSG00000152760.10	transcript	ENST00000282670.7	protein_coding	4/4					chr1	TogoVar
DYRK4_chr12_4557208_4618875	4604918	C C	G G	stop_gained stop_gained	HIGH	HG02055.hp1 HG02055.hp1	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0001 a0009c0026t0001	a0009c0026t0001g0289 a0009c0026t0001g0289	1	412	0.0024	0	c.113 others(4): Show c.1131C>G	p.Tyr others(4): Show p.Tyr377*	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	11/15	1169/2065	1131/1905	377/634		chr12	TogoVar
DZANK1_chr20_18378367_18472030	18412855	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(209): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0007 a0001c0015 others(16): Show a0001c0001 a0001c0007 a0001c0015 a0002c0004 a0002c0005 a0002c0022 a0003c0016 a0003c0027 a0004c0008 a0005c0009 a0006c0011 a0008c0019 a0009c0023 a0010c0031 a0011c0026 a0012c0029 a0013c0035 a0014c0021 a0015c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0007t0012 a0001c0007t0013 a0001c0015t0004 a0001c0015t0010 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0016t0002 a0003c0027t0008 a0004c0008t0001 a0004c0008t0003 a0005c0009t0001 a0005c0009t0005 a0006c0011t0007 a0008c0019t0002 a0009c0023t0001 a0010c0031t0003 a0011c0026t0003 a0012c0029t0005 a0013c0035t0011 a0014c0021t0002 a0015c0030t0005	a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 others(194): Show a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0262 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0003g0247 a0001c0001t0009g0024 a0001c0001t0009g0331 a0001c0001t0010g0278 a0001c0001t0011g0276 a0001c0007t0002g0011 a0001c0007t0002g0140 a0001c0007t0002g0141 a0001c0007t0002g0229 a0001c0007t0002g0230 a0001c0007t0003g0341 a0001c0007t0004g0022 a0001c0007t0004g0118 a0001c0007t0004g0201 a0001c0007t0004g0235 a0001c0007t0004g0250 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0004g0259 a0001c0007t0008g0244 a0001c0007t0008g0245 a0001c0007t0012g0112 a0001c0007t0013g0239 a0001c0015t0004g0260 a0001c0015t0004g0261 a0001c0015t0010g0179 a0001c0015t0010g0246 a0002c0004t0001g0035 a0002c0004t0001g0042 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0055 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0097 a0002c0004t0001g0249 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0034 a0002c0004t0003g0036 a0002c0004t0003g0037 a0002c0004t0003g0041 a0002c0004t0003g0043 a0002c0004t0003g0046 a0002c0004t0003g0049 a0002c0004t0003g0052 a0002c0004t0003g0053 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0058 a0002c0004t0003g0061 a0002c0004t0003g0066 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0285 a0002c0004t0015g0040 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0116 a0002c0005t0001g0117 a0002c0005t0001g0121 a0002c0005t0001g0122 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0130 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0136 a0002c0005t0001g0152 a0002c0005t0001g0155 a0002c0005t0001g0181 a0002c0005t0001g0182 a0002c0005t0001g0189 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0196 a0002c0005t0001g0241 a0002c0005t0003g0123 a0002c0005t0003g0145 a0002c0005t0003g0231 a0002c0005t0003g0240 a0002c0022t0001g0131 a0003c0016t0002g0206 a0003c0016t0002g0272 a0003c0027t0008g0236 a0004c0008t0001g0002 a0004c0008t0001g0232 a0004c0008t0001g0264 a0004c0008t0001g0265 a0004c0008t0001g0266 a0004c0008t0001g0267 a0004c0008t0003g0207 a0005c0009t0001g0147 a0005c0009t0005g0012 a0005c0009t0005g0146 a0005c0009t0005g0148 a0005c0009t0005g0238 a0005c0009t0005g0274 a0006c0011t0007g0004 a0006c0011t0007g0029 a0006c0011t0007g0030 a0006c0011t0007g0031 a0008c0019t0002g0304 a0008c0019t0002g0327 a0009c0023t0001g0132 a0010c0031t0003g0248 a0011c0026t0003g0188 a0012c0029t0005g0137 a0013c0035t0011g0098 a0014c0021t0002g0183 a0015c0030t0005g0149	212	372	0.5699	0	c.130 others(6): Show c.1300-2G>A		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	12/20					chr20	TogoVar
EBLN2_chr3_73056659_73068337	73062330	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0007 a0002c0009 others(1): Show a0002c0002 a0002c0007 a0002c0009 a0005c0006	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0007t0002 a0002c0009t0003 a0005c0006t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0022g0000 a0002c0002t0023g0000 a0002c0007t0002g0000 a0002c0009t0003g0000 a0005c0006t0002g0000	114	426	0.2676	1	c.250 others(4): Show c.250dupA	p.Arg others(4): Show p.Arg84fs	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	674/1679	251/819	84/272	INFO_REALIGN_3_PRIME	chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47391492	T T	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00642.hp1 HG00735.hp1 others(10): Show HG00099.hp1 HG00642.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01261.hp2 HG02055.hp1 HG02602.hp1 HG02818.hp1 NA20752.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003	a0001c0006t0001g0093 a0001c0006t0001g0094 a0001c0006t0001g0095 others(10): Show a0001c0006t0001g0093 a0001c0006t0001g0094 a0001c0006t0001g0095 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0006t0001g0100 a0001c0006t0002g0072 a0001c0006t0002g0073 a0001c0006t0002g0092 a0001c0006t0002g0099 a0001c0006t0002g0102 a0001c0006t0003g0096 a0001c0006t0003g0101	13	354	0.0367	0	c.163 others(4): Show c.1638T>G	p.Tyr others(4): Show p.Tyr546*	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	15/25	2075/3957	1638/2922	546/973		chr17	TogoVar
EFCAB8_chr20_32853923_32966845	32878768	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01123.hp2 HG01975.hp2 HG02027.hp1 others(11): Show HG01123.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp2 HG02109.hp1 HG02970.hp2 HG03471.hp1 HG04115.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18998.hp1 NA19030.hp2 NA19068.hp2	a0005 a0036 a0005 a0036	a0005c0008 a0005c0013 a0005c0033 others(5): Show a0005c0008 a0005c0013 a0005c0033 a0005c0034 a0005c0035 a0005c0036 a0005c0037 a0036c0059	a0005c0008t0001 a0005c0008t0002 a0005c0008t0004 others(9): Show a0005c0008t0001 a0005c0008t0002 a0005c0008t0004 a0005c0013t0001 a0005c0013t0002 a0005c0013t0004 a0005c0033t0008 a0005c0034t0002 a0005c0035t0001 a0005c0036t0004 a0005c0037t0004 a0036c0059t0003	a0005c0008t0001g0004 a0005c0008t0001g0065 a0005c0008t0001g0216 others(11): Show a0005c0008t0001g0004 a0005c0008t0001g0065 a0005c0008t0001g0216 a0005c0008t0002g0052 a0005c0008t0004g0207 a0005c0013t0001g0202 a0005c0013t0002g0026 a0005c0013t0004g0099 a0005c0033t0008g0115 a0005c0034t0002g0033 a0005c0035t0001g0097 a0005c0036t0004g0183 a0005c0037t0004g0185 a0036c0059t0003g0072	14	282	0.0496	1	c.394 others(4): Show c.394dupC	p.Arg others(5): Show p.Arg132fs	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	5/27	489/4197	395/3867	132/1288	INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L4A_chr5_112157619_112424277	112165119	C C	CTAAAA CTAAAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(218): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0021 others(26): Show a0001c0001 a0001c0002 a0001c0021 a0001c0026 a0002c0003 a0002c0007 a0002c0008 a0002c0018 a0003c0004 a0003c0005 a0004c0006 a0004c0015 a0005c0010 a0005c0011 a0005c0014 a0006c0012 a0006c0016 a0006c0023 a0007c0009 a0008c0013 a0008c0017 a0009c0030 a0010c0024 a0011c0028 a0012c0027 a0013c0029 a0014c0019 a0015c0025 a0016c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0015 a0001c0002t0019 a0001c0002t0022 a0001c0002t0025 a0001c0002t0031 a0001c0002t0032 a0001c0002t0036 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0049 a0001c0002t0050 a0001c0021t0002 a0001c0026t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0019 a0002c0003t0026 a0002c0003t0044 a0002c0007t0002 a0002c0007t0021 a0002c0007t0030 a0002c0007t0034 a0002c0008t0001 a0002c0008t0016 a0002c0008t0021 a0002c0018t0035 a0003c0004t0004 a0003c0004t0023 a0003c0004t0048 a0003c0005t0009 a0003c0005t0013 a0004c0006t0004 a0004c0015t0004 a0005c0010t0011 a0005c0011t0001 a0005c0014t0011 a0006c0012t0002 a0006c0012t0015 a0006c0016t0001 a0006c0023t0002 a0007c0009t0010 a0007c0009t0023 a0008c0013t0007 a0008c0017t0002 a0009c0030t0001 a0010c0024t0033 a0011c0028t0003 a0012c0027t0010 a0013c0029t0010 a0014c0019t0010 a0015c0025t0001 a0016c0020t0047	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 others(216): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0003g0215 a0001c0001t0005g0104 a0001c0001t0005g0110 a0001c0001t0005g0112 a0001c0001t0005g0143 a0001c0001t0005g0148 a0001c0001t0005g0155 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0199 a0001c0001t0006g0006 a0001c0001t0006g0041 a0001c0001t0006g0044 a0001c0001t0007g0111 a0001c0001t0007g0119 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0197 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0014g0171 a0001c0001t0016g0039 a0001c0001t0017g0016 a0001c0001t0017g0048 a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0020g0002 a0001c0001t0022g0211 a0001c0001t0024g0140 a0001c0001t0024g0141 a0001c0001t0027g0064 a0001c0001t0028g0008 a0001c0001t0029g0004 a0001c0001t0037g0127 a0001c0001t0038g0180 a0001c0001t0040g0097 a0001c0001t0045g0200 a0001c0001t0046g0105 a0001c0001t0051g0226 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0161 a0001c0002t0001g0177 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0002g0010 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0109 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0120 a0001c0002t0003g0144 a0001c0002t0003g0149 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0113 a0001c0002t0005g0134 a0001c0002t0005g0222 a0001c0002t0014g0136 a0001c0002t0014g0156 a0001c0002t0015g0046 a0001c0002t0019g0075 a0001c0002t0022g0139 a0001c0002t0025g0223 a0001c0002t0025g0224 a0001c0002t0031g0059 a0001c0002t0032g0042 a0001c0002t0036g0157 a0001c0002t0039g0108 a0001c0002t0041g0082 a0001c0002t0042g0194 a0001c0002t0043g0126 a0001c0002t0049g0095 a0001c0002t0050g0225 a0001c0021t0002g0009 a0001c0026t0001g0203 a0002c0003t0001g0167 a0002c0003t0002g0007 a0002c0003t0003g0094 a0002c0003t0006g0038 a0002c0003t0006g0054 a0002c0003t0006g0055 a0002c0003t0006g0056 a0002c0003t0012g0096 a0002c0003t0012g0214 a0002c0003t0012g0217 a0002c0003t0012g0220 a0002c0003t0019g0073 a0002c0003t0026g0003 a0002c0003t0044g0216 a0002c0007t0002g0052 a0002c0007t0021g0077 a0002c0007t0030g0053 a0002c0007t0034g0076 a0002c0008t0001g0170 a0002c0008t0001g0221 a0002c0008t0016g0057 a0002c0008t0021g0079 a0002c0018t0035g0078 a0003c0004t0004g0086 a0003c0004t0004g0089 a0003c0004t0004g0150 a0003c0004t0004g0219 a0003c0004t0023g0158 a0003c0004t0048g0085 a0003c0005t0009g0025 a0003c0005t0009g0026 a0003c0005t0009g0027 a0003c0005t0009g0033 a0003c0005t0009g0034 a0003c0005t0009g0035 a0003c0005t0013g0029 a0003c0005t0013g0030 a0003c0005t0013g0032 a0004c0006t0004g0087 a0004c0006t0004g0138 a0004c0006t0004g0207 a0004c0006t0004g0208 a0004c0006t0004g0209 a0004c0006t0004g0210 a0004c0015t0004g0117 a0005c0010t0011g0071 a0005c0010t0011g0072 a0005c0010t0011g0080 a0005c0011t0001g0159 a0005c0011t0001g0160 a0005c0014t0011g0069 a0005c0014t0011g0070 a0006c0012t0002g0047 a0006c0012t0015g0045 a0006c0016t0001g0151 a0006c0023t0002g0013 a0007c0009t0010g0049 a0007c0009t0010g0050 a0007c0009t0023g0202 a0008c0013t0007g0129 a0008c0013t0007g0130 a0008c0017t0002g0028 a0009c0030t0001g0188 a0010c0024t0033g0074 a0011c0028t0003g0122 a0012c0027t0010g0036 a0013c0029t0010g0037 a0014c0019t0010g0005 a0015c0025t0001g0102 a0016c0020t0047g0204	221	226	0.9779	5	c.193 others(18): Show c.1933-6_1933-2dupTTTTA		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	22/22					chr5	TogoVar

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