Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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	distance	status	chr	external
DYM_chr18_49031387_49465645	49317597	C C	CTCTCTCT others(2): Show CTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(9): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG01891.hp1 HG02074.hp1 HG02135.hp1 HG02280.hp1 HG02622.hp2 HG02683.hp2 HG03139.hp1 HG03669.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0022 a0001c0001t0028 a0001c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0219 a0001c0001t0001g0233 others(9): Show a0001c0001t0001g0047 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0003g0095 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0005g0254 a0001c0001t0006g0178 a0001c0001t0022g0182 a0001c0001t0028g0270 a0001c0002t0001g0222 a0001c0002t0001g0236	12	290	0.0414	9	c.763 others(28): Show c.763+14266_763+14267insAGAGAGAGA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49440830	T T	TGACTATA others(2): Show TGACTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00738.hp2 others(26): Show HG00099.hp1 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG02145.hp2 HG02280.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp1 HG03669.hp1 HG04204.hp1 NA19043.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0030	a0001c0001t0002g0142 a0001c0001t0002g0287 a0001c0001t0003g0115 others(26): Show a0001c0001t0002g0142 a0001c0001t0002g0287 a0001c0001t0003g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0289 a0001c0001t0016g0125 a0001c0001t0016g0140 a0001c0001t0017g0288 a0001c0001t0022g0286 a0001c0001t0030g0127	29	290	0.1000	9	c.-53 others(28): Show c.-53-10384_-53-10383insTATATAGTC		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49441275	A A	AATTATAT others(2): Show AATTATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02132.hp2 NA19003.hp1 others(3): Show HG00544.hp2 HG02132.hp2 NA19003.hp1 NA19063.hp1 NA19064.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0003g0077 others(3): Show a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080	6	290	0.0207	9	c.-53 others(28): Show c.-53-10829_-53-10828insATATATAAT		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101961732	T T	TTTATTAT others(2): Show TTTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG02109.hp2 others(9): Show HG00423.hp1 HG00639.hp1 HG02109.hp2 HG02818.hp2 NA18951.hp1 NA18967.hp2 NA18973.hp2 NA18990.hp2 NA19054.hp2 NA19067.hp1 NA19074.hp2 NA19080.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0010 others(1): Show a0001c0006 a0001c0007 a0001c0010 a0001c0024	a0001c0006t0006 a0001c0007t0061 a0001c0010t0010 others(1): Show a0001c0006t0006 a0001c0007t0061 a0001c0010t0010 a0001c0024t0022	a0001c0006t0006g0257 a0001c0006t0006g0258 a0001c0006t0006g0259 others(9): Show a0001c0006t0006g0257 a0001c0006t0006g0258 a0001c0006t0006g0259 a0001c0006t0006g0260 a0001c0006t0006g0261 a0001c0006t0006g0262 a0001c0006t0006g0263 a0001c0006t0006g0267 a0001c0006t0006g0268 a0001c0007t0061g0021 a0001c0010t0010g0271 a0001c0024t0022g0239	12	280	0.0429	9	c.-29 others(20): Show c.-2960_-2959insTTATTATTA		DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding					2840		chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95954915	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG02451.hp1 others(8): Show HG00738.hp1 HG01243.hp1 HG02451.hp1 HG02559.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0031 a0001c0001t0001g0157 a0001c0002t0001g0070 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0157 a0001c0002t0001g0070 a0001c0002t0001g0095 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0004t0001g0054 a0001c0006t0001g0089 a0001c0006t0001g0216 a0001c0008t0001g0029 a0001c0009t0001g0227	11	230	0.0478	9	c.491 others(28): Show c.491-22582_491-22574dupAAAAAAAAA		DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2H1_chr11_103104426_103484863	103446037	T T	TTTGTTGT others(2): Show TTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01361.hp2 others(12): Show HG00140.hp2 HG00738.hp1 HG01361.hp2 HG01496.hp2 HG02109.hp2 HG02148.hp2 HG02976.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG04228.hp1 NA19043.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0028 a0001 a0002 a0028	a0001c0001 a0001c0005 a0001c0057 others(4): Show a0001c0001 a0001c0005 a0001c0057 a0002c0003 a0002c0007 a0002c0022 a0028c0066	a0001c0001t0001 a0001c0005t0001 a0001c0057t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0001c0057t0001 a0002c0003t0001 a0002c0007t0001 a0002c0022t0001 a0028c0066t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0183 others(12): Show a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0183 a0001c0005t0001g0011 a0001c0005t0001g0120 a0001c0005t0001g0194 a0001c0057t0001g0249 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0037 a0002c0007t0001g0070 a0002c0022t0001g0043 a0002c0022t0001g0046 a0028c0066t0001g0205	15	262	0.0573	9	c.124 others(30): Show c.12457-9125_12457-9117dupGTTGTTGTT		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88					INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2I2_chr9_128628653_128661847	128640012	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02615.hp1 others(4): Show HG01891.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02895.hp2 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0014 a0001c0003 a0001c0007 a0001c0014	a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0001c0014t0001	a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 others(4): Show a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0002g0320 a0001c0007t0001g0068 a0001c0014t0001g0069	7	368	0.0190	9	c.435 others(24): Show c.435+670_435+678dupAAAAAAAAA		DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	2/8						chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02559.hp1 others(8): Show HG01884.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02809.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0007 others(1): Show a0001c0003 a0001c0005 a0001c0007 a0001c0014	a0001c0003t0002 a0001c0005t0001 a0001c0007t0001 others(1): Show a0001c0003t0002 a0001c0005t0001 a0001c0007t0001 a0001c0014t0001	a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0003t0002g0321 others(8): Show a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0003t0002g0321 a0001c0005t0001g0065 a0001c0005t0001g0066 a0001c0005t0001g0295 a0001c0007t0001g0067 a0001c0007t0001g0068 a0001c0007t0001g0070 a0001c0007t0001g0071 a0001c0014t0001g0069	11	368	0.0299	9	c.186 others(26): Show c.186+1197_186+1205dupTTTTTTTTT		DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8						chr9	TogoVar
DYNLRB2_chr16_80535993_80555811	80545666	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(22): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG01109.hp2 HG01256.hp2 HG01516.hp1 HG01516.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03688.hp2 NA18956.hp2 NA18971.hp1 NA18998.hp2 NA19057.hp1 NA19057.hp2 NA19070.hp1 NA19072.hp2 NA19081.hp2 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0023 others(11): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0002t0001g0030 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0003g0100	25	416	0.0601	9	c.79+ others(24): Show c.79+2326_79+2334dupTTTTTTTTT		DYNLRB2	ENSG00000168589.15	transcript	ENST00000305904.11	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
DYNLT1_chr6_158631474_158649743	158636070	T T	TATATATA others(2): Show TATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03098.hp2 HG03225.hp1 HG02615.hp2 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0005g0029 a0001c0002t0001g0051 a0001c0001t0001g0009 a0001c0001t0005g0029 a0001c0002t0001g0051	3	396	0.0076	9	c.75 others(18): Show c.756_*757insTATATATAT		DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding					403		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37417529	C C	CTTTTTCT others(2): Show CTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02165.hp1 HG02735.hp1 others(6): Show HG01070.hp2 HG02165.hp1 HG02735.hp1 NA18969.hp1 NA18971.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0031 a0001c0001t0071 others(2): Show a0001c0001t0006 a0001c0001t0031 a0001c0001t0071 a0001c0001t0105 a0001c0001t0107	a0001c0001t0006g0027 a0001c0001t0006g0035 a0001c0001t0006g0036 others(6): Show a0001c0001t0006g0027 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0039 a0001c0001t0031g0041 a0001c0001t0071g0030 a0001c0001t0105g0028 a0001c0001t0107g0038	9	350	0.0257	9	c.-76 others(26): Show c.-76-2765_-76-2764insCTTTTTTTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37451365	C C	CCCCACCC others(2): Show CCCCACCCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(128): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(63): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0044 a0001c0001t0046 a0001c0001t0055 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0078 a0001c0001t0080 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0156 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0168 a0001c0002t0167 a0002c0004t0032	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(128): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0158 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0006g0004 a0001c0001t0006g0027 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0007g0140 a0001c0001t0013g0155 a0001c0001t0013g0156 a0001c0001t0013g0253 a0001c0001t0013g0268 a0001c0001t0014g0047 a0001c0001t0014g0079 a0001c0001t0014g0102 a0001c0001t0014g0105 a0001c0001t0024g0169 a0001c0001t0024g0175 a0001c0001t0024g0176 a0001c0001t0025g0042 a0001c0001t0025g0344 a0001c0001t0029g0160 a0001c0001t0029g0168 a0001c0001t0030g0044 a0001c0001t0030g0093 a0001c0001t0031g0033 a0001c0001t0031g0041 a0001c0001t0032g0078 a0001c0001t0044g0170 a0001c0001t0044g0251 a0001c0001t0046g0090 a0001c0001t0055g0269 a0001c0001t0063g0345 a0001c0001t0064g0074 a0001c0001t0065g0085 a0001c0001t0066g0097 a0001c0001t0067g0110 a0001c0001t0068g0346 a0001c0001t0069g0031 a0001c0001t0070g0101 a0001c0001t0071g0030 a0001c0001t0072g0029 a0001c0001t0078g0034 a0001c0001t0080g0089 a0001c0001t0089g0270 a0001c0001t0090g0063 a0001c0001t0091g0157 a0001c0001t0092g0098 a0001c0001t0093g0252 a0001c0001t0094g0006 a0001c0001t0095g0084 a0001c0001t0096g0076 a0001c0001t0097g0067 a0001c0001t0098g0009 a0001c0001t0099g0052 a0001c0001t0100g0051 a0001c0001t0101g0149 a0001c0001t0102g0055 a0001c0001t0103g0347 a0001c0001t0104g0068 a0001c0001t0105g0028 a0001c0001t0106g0062 a0001c0001t0107g0038 a0001c0001t0108g0096 a0001c0001t0109g0166 a0001c0001t0110g0080 a0001c0001t0111g0153 a0001c0001t0112g0164 a0001c0001t0113g0165 a0001c0001t0114g0066 a0001c0001t0115g0159 a0001c0001t0156g0010 a0001c0001t0159g0172 a0001c0001t0160g0177 a0001c0001t0161g0107 a0001c0001t0162g0148 a0001c0001t0163g0171 a0001c0001t0164g0173 a0001c0001t0165g0174 a0001c0001t0166g0032 a0001c0001t0168g0167 a0001c0002t0167g0322 a0002c0004t0032g0086	131	350	0.3743	9	c.11- others(26): Show c.11-21318_11-21317insCCACCCATC		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37454085	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp2 HG01256.hp1 others(13): Show HG00438.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01884.hp2 HG02040.hp1 HG02083.hp1 HG03471.hp1 HG03490.hp1 HG03540.hp2 HG03669.hp2 NA18952.hp1 NA18960.hp1 NA18972.hp1 NA19000.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0034 a0001c0001t0038 a0001c0001t0051 a0001c0001t0140 a0001c0001t0141	a0001c0001t0002g0118 a0001c0001t0002g0127 a0001c0001t0002g0186 others(12): Show a0001c0001t0002g0118 a0001c0001t0002g0127 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0211 a0001c0001t0003g0303 a0001c0001t0003g0307 a0001c0001t0004g0119 a0001c0001t0010g0333 a0001c0001t0012g0124 a0001c0001t0034g0001 a0001c0001t0038g0310 a0001c0001t0051g0129 a0001c0001t0140g0231 a0001c0001t0141g0184	16	350	0.0457	9	c.11- others(26): Show c.11-18582_11-18574dupTTTTTTTTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479606	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp1 HG01257.hp1 others(9): Show HG00140.hp1 HG01123.hp1 HG01257.hp1 HG01952.hp1 HG01981.hp1 HG02132.hp1 HG04204.hp2 NA18939.hp1 NA18983.hp1 NA18989.hp1 NA18999.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0066 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0066 a0001c0001t0096 a0001c0001t0108 a0001c0002t0074	a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0056 others(9): Show a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0014g0047 a0001c0001t0066g0097 a0001c0001t0096g0076 a0001c0001t0108g0096 a0001c0002t0074g0330	12	350	0.0343	9	c.301 others(26): Show c.301-1027_301-1026insTTTTTTTTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(2): Show GTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG01175.hp2 others(23): Show HG00140.hp2 HG00597.hp2 HG01175.hp2 HG01361.hp2 HG01943.hp1 HG02056.hp2 HG02083.hp1 HG02145.hp2 HG02273.hp1 HG02683.hp1 HG02717.hp2 HG02970.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 NA18965.hp2 NA18981.hp2 NA18989.hp2 NA19000.hp2 NA19009.hp2 NA19079.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0027 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0076 a0001c0001t0116 a0001c0001t0126	a0001c0001t0002g0113 a0001c0001t0002g0127 a0001c0001t0002g0181 others(23): Show a0001c0001t0002g0113 a0001c0001t0002g0127 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0207 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0003g0120 a0001c0001t0003g0232 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0311 a0001c0001t0004g0178 a0001c0001t0012g0124 a0001c0001t0017g0206 a0001c0001t0019g0265 a0001c0001t0027g0343 a0001c0001t0035g0194 a0001c0001t0035g0197 a0001c0001t0036g0201 a0001c0001t0039g0208 a0001c0001t0040g0228 a0001c0001t0076g0205 a0001c0001t0116g0339 a0001c0001t0126g0239	26	350	0.0743	9	c.301 others(26): Show c.301-1021_301-1020insGTTTTTTTT		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71622135	T T	TTTTTTTT others(2): Show TTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00609.hp2 others(38): Show HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01934.hp2 HG01978.hp2 HG02083.hp2 HG02300.hp1 HG02300.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18948.hp1 NA18952.hp2 NA18963.hp2 NA18994.hp1 NA19064.hp1 NA19074.hp1 NA19087.hp2 NA20752.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0007 a0011 a0016 a0020 a0028	a0001c0002 a0001c0005 a0001c0009 others(14): Show a0001c0002 a0001c0005 a0001c0009 a0001c0012 a0001c0014 a0001c0057 a0001c0071 a0001c0075 a0001c0076 a0002c0067 a0003c0062 a0003c0084 a0007c0028 a0011c0054 a0016c0036 a0020c0063 a0028c0068	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(17): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0009t0002 a0001c0012t0001 a0001c0014t0001 a0001c0057t0001 a0001c0071t0002 a0001c0075t0001 a0001c0076t0001 a0002c0067t0001 a0003c0062t0001 a0003c0084t0002 a0007c0028t0004 a0011c0054t0002 a0016c0036t0001 a0020c0063t0001 a0028c0068t0004	a0001c0002t0001g0041 a0001c0002t0001g0058 a0001c0002t0001g0059 others(38): Show a0001c0002t0001g0041 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0094 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0161 a0001c0002t0002g0151 a0001c0002t0002g0155 a0001c0002t0002g0159 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0181 a0001c0005t0001g0029 a0001c0005t0001g0136 a0001c0005t0001g0140 a0001c0005t0002g0146 a0001c0005t0002g0152 a0001c0009t0001g0053 a0001c0009t0002g0025 a0001c0012t0001g0071 a0001c0012t0001g0127 a0001c0014t0001g0109 a0001c0014t0001g0169 a0001c0057t0001g0107 a0001c0071t0002g0077 a0001c0075t0001g0055 a0001c0076t0001g0120 a0002c0067t0001g0038 a0003c0062t0001g0102 a0003c0084t0002g0012 a0007c0028t0004g0047 a0011c0054t0002g0164 a0016c0036t0001g0118 a0020c0063t0001g0036 a0028c0068t0004g0100	41	192	0.2135	9	c.441 others(28): Show c.4410+8733_4410+8734insGTTTTTTTT		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71645565	T T	TGGGGGTG others(2): Show TGGGGGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp1 HG02965.hp2 others(2): Show HG01099.hp1 HG02109.hp1 HG02965.hp2 HG03453.hp2 NA19030.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0004 a0001c0007 a0003c0082 others(1): Show a0001c0004 a0001c0007 a0003c0082 a0009c0081	a0001c0004t0003 a0001c0007t0001 a0003c0082t0003 others(1): Show a0001c0004t0003 a0001c0007t0001 a0003c0082t0003 a0009c0081t0001	a0001c0004t0003g0065 a0001c0004t0003g0084 a0001c0007t0001g0063 others(2): Show a0001c0004t0003g0065 a0001c0004t0003g0084 a0001c0007t0001g0063 a0003c0082t0003g0185 a0009c0081t0001g0101	5	192	0.0260	9	c.450 others(28): Show c.4509+1504_4509+1512dupGGGGTGTGG		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	41/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71622135	T T	TTTTTTTT others(2): Show TTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00642.hp1 others(39): Show HG00438.hp1 HG00544.hp2 HG00642.hp1 HG00673.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01261.hp2 HG01934.hp1 HG01978.hp1 HG02083.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03225.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18948.hp2 NA18952.hp2 NA18963.hp1 NA19064.hp1 NA19074.hp1 NA19087.hp1 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0009 a0013 a0017 a0022 a0031	a0001c0002 a0001c0005 a0001c0012 others(16): Show a0001c0002 a0001c0005 a0001c0012 a0001c0013 a0001c0014 a0001c0057 a0001c0073 a0001c0080 a0001c0081 a0001c0084 a0002c0070 a0003c0065 a0003c0090 a0005c0035 a0009c0029 a0013c0054 a0017c0038 a0022c0066 a0031c0071	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(20): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0012t0001 a0001c0013t0001 a0001c0013t0002 a0001c0014t0001 a0001c0014t0002 a0001c0057t0001 a0001c0073t0001 a0001c0080t0001 a0001c0081t0001 a0001c0084t0001 a0002c0070t0001 a0003c0065t0001 a0003c0090t0001 a0005c0035t0001 a0009c0029t0005 a0013c0054t0002 a0017c0038t0001 a0022c0066t0001 a0031c0071t0005	a0001c0002t0001g0040 a0001c0002t0001g0046 a0001c0002t0001g0067 others(39): Show a0001c0002t0001g0040 a0001c0002t0001g0046 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0099 a0001c0002t0001g0107 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0005t0001g0062 a0001c0005t0001g0070 a0001c0005t0001g0074 a0001c0005t0001g0092 a0001c0005t0001g0143 a0001c0005t0002g0177 a0001c0012t0001g0033 a0001c0012t0001g0147 a0001c0013t0001g0057 a0001c0013t0002g0186 a0001c0014t0001g0004 a0001c0014t0002g0175 a0001c0057t0001g0009 a0001c0073t0001g0128 a0001c0080t0001g0086 a0001c0081t0001g0018 a0001c0084t0001g0038 a0002c0070t0001g0079 a0003c0065t0001g0110 a0003c0090t0001g0136 a0005c0035t0001g0122 a0009c0029t0005g0084 a0013c0054t0002g0169 a0017c0038t0001g0015 a0022c0066t0001g0075 a0031c0071t0005g0077	42	208	0.2019	9	c.452 others(28): Show c.4527+1534_4527+1535insGTTTTTTTT		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	41/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71645565	T T	TGGGGGTG others(2): Show TGGGGGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp1 HG02965.hp1 others(3): Show HG01099.hp1 HG02109.hp1 HG02965.hp1 HG03130.hp2 HG03453.hp2 NA19030.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0004 a0001c0007 a0003c0088 others(1): Show a0001c0004 a0001c0007 a0003c0088 a0011c0087	a0001c0004t0003 a0001c0007t0002 a0003c0088t0006 others(1): Show a0001c0004t0003 a0001c0007t0002 a0003c0088t0006 a0011c0087t0001	a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0134 others(3): Show a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0134 a0001c0007t0002g0148 a0003c0088t0006g0192 a0011c0087t0001g0090	6	208	0.0289	9	c.462 others(28): Show c.4626+1504_4626+1512dupGGGGTGTGG		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	42/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYTN_chr2_206646621_206723396	206696420	T T	TTGTTTAC others(2): Show TTGTTTACTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02922.hp1 others(4): Show HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 NA20300.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0012	a0001c0001 a0002c0002 a0009c0009 others(1): Show a0001c0001 a0002c0002 a0009c0009 a0012c0015	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0009c0009t0001 a0012c0015t0002	a0001c0001t0001g0343 a0002c0002t0001g0340 a0002c0002t0001g0341 others(4): Show a0001c0001t0001g0343 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0003g0198 a0009c0009t0001g0205 a0012c0015t0002g0166	7	382	0.0183	9	c.720 others(26): Show c.720-1552_720-1544dupCAGTAAACA		DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	7/11						chr2	TogoVar
DYTN_chr2_206646621_206723396	206721150	C C	CAATAATA others(2): Show CAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01952.hp2 HG02155.hp2 others(10): Show HG01192.hp2 HG01952.hp2 HG02155.hp2 HG02630.hp1 HG02735.hp2 HG02886.hp2 HG03139.hp2 HG03654.hp1 HG06807.hp1 NA18947.hp1 NA18970.hp2 NA19002.hp2 NA19057.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0011c0013	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0011c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0062 a0001c0001t0001g0063 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0093 a0001c0001t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0197 a0002c0002t0001g0294 a0002c0002t0001g0348 a0003c0003t0001g0196 a0011c0013t0001g0349	13	382	0.0340	9	c.-28 others(20): Show c.-2880_-2872dupATTATTATT		DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding					2755		chr2	TogoVar
DZANK1_chr20_18378367_18472030	18409583	C C	CACACACA others(2): Show CACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00738.hp1 others(36): Show HG00140.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02074.hp1 HG02257.hp2 HG02523.hp2 HG02572.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG03041.hp2 HG03239.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 NA18943.hp2 NA18954.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp1 NA18986.hp1 NA18990.hp2 NA18999.hp2 NA19002.hp2 NA19012.hp1 NA19240.hp1 NA20905.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0011	a0001c0001 a0001c0007 a0003c0016 others(2): Show a0001c0001 a0001c0007 a0003c0016 a0009c0019 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 a0003c0016t0002 a0009c0019t0002 a0011c0021t0002	a0001c0001t0001g0333 a0001c0001t0002g0261 a0001c0001t0002g0274 others(35): Show a0001c0001t0001g0333 a0001c0001t0002g0261 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0287 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0007t0002g0011 a0001c0007t0002g0139 a0001c0007t0002g0140 a0003c0016t0002g0271 a0009c0019t0002g0304 a0009c0019t0002g0329 a0011c0021t0002g0182	39	374	0.1043	9	c.150 others(28): Show c.1507+3062_1507+3063insTGTGTGTGT		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	13/20						chr20	TogoVar
E2F3_chr6_20396879_20498714	20449960	T T	TATGAGAT others(2): Show TATGAGATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp2 HG03540.hp2 others(1): Show HG02615.hp2 HG03471.hp2 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0001 a0001c0001t0024g0105 a0001c0001t0004g0001 a0001c0001t0024g0105	4	336	0.0119	9	c.394 others(28): Show c.394-29886_394-29885insATGAGATAC		E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/6						chr6	TogoVar
E2F3_chr6_20396879_20498714	20498668	T T	TTTTGAAT others(2): Show TTTTGAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01361.hp2 HG01496.hp2 others(25): Show HG01081.hp1 HG01361.hp2 HG01496.hp2 HG01943.hp2 HG02055.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp2 HG06807.hp1 NA18940.hp2 NA18946.hp2 NA18951.hp1 NA18966.hp2 NA19000.hp1 NA19060.hp1 NA19079.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0053 others(24): Show a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0053 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0245 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0308 a0001c0001t0001g0317 a0001c0001t0003g0216 a0001c0008t0001g0161 a0002c0002t0001g0075 a0002c0002t0001g0076 a0003c0004t0001g0005	28	336	0.0833	9	c.82 others(20): Show c.8238_*8239insTTTGAATTA		E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding					4955		chr6	TogoVar
E2F4_chr16_67187155_67203918	67195890	A A	ACAGCAGC others(2): Show ACAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02132.hp1 HG02622.hp1 HG02818.hp1 others(5): Show HG02132.hp1 HG02622.hp1 HG02818.hp1 HG02896.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0001 a0002c0003t0001g0004	8	320	0.0250	9	c.950 others(16): Show c.950_958dupGCAGCAGCA	p.Ser others(13): Show p.Ser317_Ser319dup	E2F4	ENSG00000205250.9	transcript	ENST00000379378.8	protein_coding	7/10	1032/2110	959/1242	320/413		INFO_REALIGN_3_PRIME	chr16	TogoVar
EAF2_chr3_121830209_121891526	121840515	A A	AAAAAAAA others(2): Show AAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01433.hp2 HG01975.hp1 others(11): Show HG00323.hp1 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02165.hp2 HG02735.hp2 HG03490.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18994.hp2 NA19072.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0230 others(9): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0248 a0001c0001t0002g0237	14	318	0.0440	9	c.107 others(26): Show c.107-3932_107-3931insAACAAAAAA		EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
EBF1_chr5_158690920_159104916	159006647	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG02922.hp1 others(2): Show HG00408.hp1 HG00544.hp1 HG02922.hp1 HG03139.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0025 a0001c0001t0068 others(2): Show a0001c0001t0003 a0001c0001t0025 a0001c0001t0068 a0001c0001t0075 a0002c0003t0080	a0001c0001t0003g0148 a0001c0001t0025g0178 a0001c0001t0068g0062 others(2): Show a0001c0001t0003g0148 a0001c0001t0025g0178 a0001c0001t0068g0062 a0001c0001t0075g0072 a0002c0003t0080g0179	5	196	0.0255	9	c.554 others(28): Show c.554+66740_554+66748dupTTTTTTTTT		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15						chr5	TogoVar
EBF1_chr5_158690920_159104916	159090807	G G	GTAATAAT others(2): Show GTAATAATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00639.hp1 others(36): Show HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01257.hp1 HG01361.hp1 HG01934.hp2 HG01981.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG04184.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA19084.hp1 NA19090.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0037 a0001c0001t0054 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0012 a0001c0002t0013 a0001c0002t0024 a0001c0002t0026 a0001c0002t0035 a0001c0002t0036 a0001c0002t0064 a0001c0004t0004 a0002c0003t0080	a0001c0001t0001g0107 a0001c0001t0002g0100 a0001c0001t0002g0101 others(36): Show a0001c0001t0001g0107 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0168 a0001c0001t0004g0106 a0001c0001t0004g0125 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0007g0066 a0001c0001t0010g0081 a0001c0001t0011g0102 a0001c0001t0012g0011 a0001c0001t0019g0067 a0001c0001t0020g0166 a0001c0001t0025g0177 a0001c0001t0025g0178 a0001c0001t0037g0024 a0001c0001t0054g0050 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0170 a0001c0002t0003g0108 a0001c0002t0003g0110 a0001c0002t0003g0126 a0001c0002t0006g0015 a0001c0002t0006g0017 a0001c0002t0006g0020 a0001c0002t0006g0022 a0001c0002t0006g0025 a0001c0002t0012g0023 a0001c0002t0013g0001 a0001c0002t0013g0002 a0001c0002t0024g0176 a0001c0002t0026g0103 a0001c0002t0035g0016 a0001c0002t0036g0012 a0001c0002t0064g0056 a0001c0004t0004g0171 a0002c0003t0080g0179	39	196	0.1990	9	c.411 others(26): Show c.411+4804_411+4812dupTTATTATTA		EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	4/15						chr5	TogoVar
EBF2_chr8_25836725_26050413	25859721	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp2 HG01496.hp2 others(8): Show HG00735.hp2 HG01346.hp2 HG01496.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02148.hp1 NA18948.hp1 NA19003.hp2 NA19011.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0041 others(8): Show a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0041 a0001c0001t0004g0059 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0092 a0001c0001t0004g0133 a0001c0001t0012g0162 a0001c0001t0012g0170 a0001c0001t0012g0172	11	220	0.0500	9	c.134 others(28): Show c.1343-1226_1343-1218dupAAAAAAAAA		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	13/15						chr8	TogoVar
EBF4_chr20_2687780_2765108	2711148	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 NA19043.hp1 HG01243.hp1 HG02559.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003	a0001c0001t0003g0170 a0001c0002t0001g0271 a0001c0002t0003g0234 a0001c0001t0003g0170 a0001c0002t0001g0271 a0001c0002t0003g0234	3	388	0.0077	9	c.557 others(26): Show c.557+1530_557+1538dupTAATAATAA		EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
EBI3_chr19_4224523_4242528	4227017	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG01891.hp2 others(4): Show HG00733.hp2 HG01123.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02723.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0220 a0002c0002t0001g0022	7	438	0.0160	9	c.-25 others(20): Show c.-2534_-2533insTTTTTTTTT		EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding					2505		chr19	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG01358.hp1 others(14): Show HG00621.hp2 HG00642.hp2 HG01358.hp1 HG02027.hp2 HG02071.hp2 HG02083.hp2 HG02572.hp1 HG03516.hp2 HG03688.hp1 HG04204.hp2 HG04228.hp2 NA18943.hp1 NA18991.hp1 NA19065.hp2 NA19067.hp2 NA19086.hp1 NA19088.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0009 a0001c0001 a0002c0002 a0004c0009	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0004c0009t0002	a0001c0001t0001g0029 a0002c0002t0001g0192 a0002c0002t0002g0007 others(6): Show a0001c0001t0001g0029 a0002c0002t0001g0192 a0002c0002t0002g0007 a0002c0002t0002g0034 a0002c0002t0002g0092 a0002c0002t0002g0109 a0002c0002t0002g0116 a0002c0002t0002g0123 a0004c0009t0002g0144	17	438	0.0388	9	c.538 others(24): Show c.538-401_538-393dupAAAAAAAAA		EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
EBPL_chr13_49655674_49696486	49679006	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00597.hp1 others(85): Show HG00140.hp2 HG00323.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG02922.hp1 HG03017.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp2 NA18947.hp2 NA18961.hp1 NA18980.hp2 NA18999.hp1 NA19009.hp2 NA19030.hp1 NA19055.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19082.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0022 others(64): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0299	88	410	0.2146	9	c.172 others(26): Show c.172-9169_172-9161dupTTTTTTTTT		EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3						chr13	TogoVar
ECD_chr10_73128668_73173008	73159642	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02965.hp2 HG02970.hp2 others(2): Show HG02486.hp2 HG02965.hp2 HG02970.hp2 HG03225.hp1 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0003c0005 a0002c0002 a0003c0004 a0003c0005	a0002c0002t0003 a0003c0004t0003 a0003c0005t0003 a0002c0002t0003 a0003c0004t0003 a0003c0005t0003	a0002c0002t0003g0040 a0002c0002t0003g0049 a0002c0002t0003g0093 others(2): Show a0002c0002t0003g0040 a0002c0002t0003g0049 a0002c0002t0003g0093 a0003c0004t0003g0095 a0003c0005t0003g0094	5	272	0.0184	9	c.323 others(24): Show c.323+783_323+791dupAAAAAAAAA		ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	3/13						chr10	TogoVar
ECD_chr10_73128668_73173008	73168308	T T	TGAGGAGG others(2): Show TGAGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA19085.hp2 HG02896.hp2 HG02897.hp2 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0155 a0003c0004t0003g0105 a0003c0004t0003g0106 a0001c0001t0001g0155 a0003c0004t0003g0105 a0003c0004t0003g0106	3	272	0.0110	9	c.-46 others(18): Show c.-465_-457dupCTCCTCCTC		ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding					301		chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11752278	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp2 HG01123.hp1 others(4): Show HG00642.hp2 HG01071.hp2 HG01123.hp1 HG01168.hp2 HG03654.hp2 HG04199.hp1 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0001 a0003c0004t0001 a0001c0005t0001 a0003c0004t0001	a0001c0005t0001g0022 a0001c0005t0001g0104 a0001c0005t0001g0110 others(2): Show a0001c0005t0001g0022 a0001c0005t0001g0104 a0001c0005t0001g0110 a0003c0004t0001g0111 a0003c0004t0001g0116	7	420	0.0167	9	c.390 others(26): Show c.390+2699_390+2707dupTTTTTTTTT		ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr10	TogoVar
ECPAS_chr9_111355685_111489383	111365288	T T	TATCATCA others(2): Show TATCATCATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00735.hp2 others(13): Show HG00099.hp1 HG00642.hp1 HG00735.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01258.hp2 HG02809.hp2 HG03017.hp2 HG03239.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 NA20905.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0014 a0002c0002 a0007c0014	a0002c0002t0001 a0002c0002t0005 a0007c0014t0001 a0002c0002t0001 a0002c0002t0005 a0007c0014t0001	a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 others(13): Show a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0143 a0002c0002t0001g0239 a0002c0002t0001g0344 a0002c0002t0005g0005 a0007c0014t0001g0345	16	354	0.0452	9	c.530 others(26): Show c.5308+942_5308+950dupGATGATGAT		ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	48/49						chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp1 HG01069.hp2 others(8): Show HG00280.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01167.hp2 HG02257.hp2 HG02486.hp1 HG02717.hp2 HG02976.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0116 a0001c0001t0001g0183 a0001c0001t0001g0248 others(7): Show a0001c0001t0001g0116 a0001c0001t0001g0183 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0002t0001g0031 a0001c0002t0001g0055 a0001c0002t0001g0073 a0001c0002t0001g0096 a0001c0003t0001g0255	11	434	0.0254	9	c.80- others(22): Show c.80-500_80-492dupAAAAAAAAA		ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
ECT2L_chr6_138791087_138909070	138806511	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00621.hp1 others(27): Show HG00280.hp1 HG00280.hp2 HG00621.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp1 HG02145.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp2 NA18954.hp1 NA19006.hp2 NA19011.hp1 NA19067.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0009 a0019 a0024	a0001c0001 a0001c0003 a0001c0021 others(9): Show a0001c0001 a0001c0003 a0001c0021 a0001c0022 a0001c0034 a0002c0002 a0004c0006 a0004c0008 a0008c0013 a0009c0012 a0019c0032 a0024c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0024 a0001c0003t0003 a0001c0021t0004 a0001c0022t0003 a0001c0034t0023 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0004c0006t0001 a0004c0008t0009 a0008c0013t0005 a0009c0012t0018 a0019c0032t0005 a0024c0020t0002	a0001c0001t0001g0032 a0001c0001t0001g0266 a0001c0001t0003g0030 others(27): Show a0001c0001t0001g0032 a0001c0001t0001g0266 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0004g0144 a0001c0001t0004g0265 a0001c0001t0006g0003 a0001c0001t0006g0029 a0001c0001t0006g0270 a0001c0001t0008g0250 a0001c0001t0024g0031 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0021t0004g0143 a0001c0022t0003g0142 a0001c0034t0023g0016 a0002c0002t0003g0145 a0002c0002t0003g0148 a0002c0002t0004g0147 a0002c0002t0006g0033 a0004c0006t0001g0313 a0004c0008t0009g0314 a0008c0013t0005g0267 a0008c0013t0005g0269 a0009c0012t0018g0009 a0019c0032t0005g0268 a0024c0020t0002g0315	30	326	0.0920	9	c.-24 others(28): Show c.-243-6316_-243-6308dupTTTTTTTTT		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138842026	G G	GATAAGTG others(2): Show GATAAGTGTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02895.hp1 others(7): Show HG02630.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0006c0011 a0006c0015	a0001c0001t0004 a0001c0003t0003 a0002c0002t0017 others(4): Show a0001c0001t0004 a0001c0003t0003 a0002c0002t0017 a0002c0005t0013 a0006c0011t0014 a0006c0011t0021 a0006c0015t0003	a0001c0001t0004g0040 a0001c0003t0003g0124 a0002c0002t0017g0010 others(7): Show a0001c0001t0004g0040 a0001c0003t0003g0124 a0002c0002t0017g0010 a0002c0005t0013g0217 a0002c0005t0013g0220 a0006c0011t0014g0013 a0006c0011t0014g0237 a0006c0011t0021g0236 a0006c0015t0003g0238 a0006c0015t0003g0239	10	326	0.0307	9	c.343 others(24): Show c.343-951_343-943dupTAAGTGTCA		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138864002	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02965.hp1 others(6): Show HG02109.hp2 HG02615.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03540.hp2 NA18522.hp2 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0018 a0007c0010 others(1): Show a0001c0001 a0001c0018 a0007c0010 a0007c0014	a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 others(4): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0029 a0001c0018t0020 a0007c0010t0010 a0007c0014t0005	a0001c0001t0007g0006 a0001c0001t0009g0012 a0001c0001t0009g0108 others(6): Show a0001c0001t0007g0006 a0001c0001t0009g0012 a0001c0001t0009g0108 a0001c0001t0010g0319 a0001c0001t0029g0262 a0001c0018t0020g0007 a0007c0010t0010g0206 a0007c0014t0005g0207 a0007c0014t0005g0208	9	326	0.0276	9	c.129 others(26): Show c.1292-975_1292-967dupAAAAAAAAA		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	11/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138867927	T T	TGAGCTCA others(2): Show TGAGCTCAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02257.hp2 others(4): Show HG01884.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG03098.hp2 HG03139.hp1 NA18522.hp1	a0005 a0016 a0005 a0016	a0005c0007 a0005c0024 a0016c0027 a0005c0007 a0005c0024 a0016c0027	a0005c0007t0001 a0005c0024t0005 a0016c0027t0001 a0005c0007t0001 a0005c0024t0005 a0016c0027t0001	a0005c0007t0001g0300 a0005c0007t0001g0301 a0005c0007t0001g0302 others(4): Show a0005c0007t0001g0300 a0005c0007t0001g0301 a0005c0007t0001g0302 a0005c0007t0001g0303 a0005c0007t0001g0317 a0005c0024t0005g0276 a0016c0027t0001g0005	7	326	0.0215	9	c.147 others(26): Show c.1475-175_1475-174insAGCTCAGGG		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138890492	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG01109.hp1 others(6): Show HG00558.hp1 HG00597.hp2 HG01109.hp1 HG01433.hp2 HG02280.hp1 HG03491.hp2 HG04115.hp1 NA18970.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0004g0127 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0004g0127 a0001c0001t0006g0278 a0001c0001t0006g0286 a0002c0002t0001g0041 a0002c0002t0001g0049 a0002c0002t0001g0076 a0002c0002t0001g0189	9	326	0.0276	9	c.241 others(28): Show c.2414+1481_2414+1489dupTTTTTTTTT		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
EDARADD_chr1_236389286_236489930	236405812	C C	CTTTCTTT others(2): Show CTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01258.hp2 HG03130.hp2 HG00597.hp1 HG01258.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0008 a0002c0002t0004 a0001c0001t0002 a0001c0001t0008 a0002c0002t0004	a0001c0001t0002g0174 a0001c0001t0008g0003 a0002c0002t0004g0249 a0001c0001t0002g0174 a0001c0001t0008g0003 a0002c0002t0004g0249	3	294	0.0102	9	c.62- others(24): Show c.62-3404_62-3403insTTTCTTTTT		EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5						chr1	TogoVar
EDAR_chr2_108889471_108994220	108959569	A A	AGCAGTCA others(2): Show AGCAGTCATG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03486.hp2 HG06807.hp1 HG02615.hp2 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0012 a0001c0002t0013 a0001c0004t0003 a0001c0002t0012 a0001c0002t0013 a0001c0004t0003	a0001c0002t0012g0010 a0001c0002t0013g0052 a0001c0004t0003g0135 a0001c0002t0012g0010 a0001c0002t0013g0052 a0001c0004t0003g0135	3	226	0.0133	9	c.-18 others(28): Show c.-18-28546_-18-28538dupCATGACTGC		EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	1/11						chr2	TogoVar
EDA_chrX_69611113_70044472	69635566	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp2 HG02257.hp1 others(9): Show HG00735.hp2 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp2 NA18948.hp1 NA18986.hp1 NA19012.hp1 NA19043.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(9): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0003g0158 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0004g0194	12	226	0.0531	9	c.396 others(28): Show c.396+18874_396+18882dupTTTTTTTTT		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69777142	G G	GTGTTGTT others(2): Show GTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01081.hp2 others(8): Show HG00639.hp1 HG00642.hp1 HG01081.hp2 HG01123.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG03688.hp1 HG03834.hp1 HG04204.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0203 a0001c0001t0001g0207 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0224 a0001c0001t0005g0206	11	226	0.0487	9	c.396 others(30): Show c.396+160439_396+160440insGTTGTTGTT		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69918466	A A	AATACCTA others(2): Show AATACCTATT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	226	0.0044	9	c.397 others(28): Show c.397-38557_397-38549dupCCTATTATA		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EDIL3_chr5_83935554_84389880	84006078	T T	TTAATAAT others(2): Show TTAATAATAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp1 HG02897.hp1 others(3): Show HG02486.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0004t0010 a0001c0007t0001	a0001c0001t0001g0147 a0001c0001t0003g0077 a0001c0002t0003g0052 others(3): Show a0001c0001t0001g0147 a0001c0001t0003g0077 a0001c0002t0003g0052 a0001c0004t0010g0156 a0001c0004t0010g0157 a0001c0007t0001g0126	6	158	0.0380	9	c.113 others(30): Show c.1138-42727_1138-42719dupTTATTATTA		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10						chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(2): Show GTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01123.hp2 others(13): Show HG00140.hp2 HG00423.hp1 HG01123.hp2 HG01168.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02965.hp2 HG03139.hp2 HG03540.hp2 NA18944.hp1 NA18984.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0002t0003 a0001c0003t0003	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0006g0072 a0001c0001t0017g0015 a0001c0002t0003g0052 a0001c0003t0003g0043	16	158	0.1013	9	c.68- others(24): Show c.68-8456_68-8448dupAAAAAAAAA		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10						chr5	TogoVar

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