Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UTP14A_chrX_129901164_129934752	129922719	CTTTTTTT others(103): Show CTTTTTTTTTTCCTTTTTTTTTTTCAGGTTTCCACATACAAAAATTTATT TTAAAAGAGCTATCATTTAGAATATATTATAGGGACCTTTACTTAATAGT TTTGGCTGGAT	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	270	0.0037	-110	c.134 others(19): Show c.1348+1133_1348+1242del	UTP14A	ENSG00000156697.13	transcript	ENST00000394422.8	protein_coding	11/14			chrX	TogoVar
VIPR2_chr7_159023175_159149867	159102022	TCCGACTG others(103): Show TCCGACTGTTCCTGTGATAGTGAACGGGTCTCACGAGATCCGACGAGGCC ATTCCCCCGACCGTTCCTGTGGTAGTGAACTGGTCTCACGAGATCCGACA AGGCCGTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp1 NA20905.hp1 others(1): Show HG02818.hp2 HG02886.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0011 a0001c0006 a0002c0011	a0001c0006t0002 a0002c0011t0014 a0001c0006t0002 a0002c0011t0014	a0001c0006t0002g0317 a0002c0011t0014g0010 a0002c0011t0014g0025 others(1): Show a0001c0006t0002g0317 a0002c0011t0014g0010 a0002c0011t0014g0025 a0002c0011t0014g0077	4	330	0.0121	-110	c.357 others(17): Show c.357+1625_357+1734del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VPS13D_chr1_12225030_12517047	12387447	AGGAGACT others(103): Show AGGAGACTAATTGGTCAAAACTGATTCACAACTGGCACAGATGTTAGAAT TTTTGGAGGACGTTAAAACTGTTAATGTAACTGTATTCTCTGTGTTCAAA AGGTTAAGTAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02698.hp2 HG00438.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0091 a0001c0002t0009g0014 a0001c0001t0001g0091 a0001c0002t0009g0014	2	152	0.0132	-110	c.116 others(21): Show c.11634+1224_11634+1333del	VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	60/69		INFO_REALIGN_3_PRIME	chr1	TogoVar
WARS1_chr14_100328790_100380347	100378896	TGCAGTGA others(103): Show TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAATGTTCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02717.hp1 others(6): Show HG02280.hp2 HG02559.hp2 HG02717.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0098 a0001c0002t0001g0005 a0001c0002t0001g0097 others(3): Show a0001c0001t0001g0098 a0001c0002t0001g0005 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101	9	336	0.0268	-110	c.-37 others(11): Show c.-3797_-3688del	WARS1	ENSG00000140105.18	transcript	ENST00000392882.7	protein_coding		3550		chr14	TogoVar
WDR25_chr14_100371485_100535303	100378896	TGCAGTGA others(103): Show TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAATGTTCCAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02717.hp2 others(4): Show HG02280.hp1 HG02559.hp1 HG02717.hp2 HG03540.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(4): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0003t0001g0195	7	228	0.0307	-110	c.-15 others(17): Show c.-15-2009_-15-1900del	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ZBTB46_chr20_63738670_63836264	63816033	ACAGGTGC others(103): Show ACAGGTGCGGTGGGTGCAGGTGCGGTGGGCGCAGGTGCAGTGGGCACAGG TGGGCACAGGTGCAGTGGGCGCAGGTGCAGTGGGCGCAGGTGGGCGCAGG TGCAGTGGGTG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0235 a0002c0003t0003g0235	1	256	0.0039	-110	c.-34 others(19): Show c.-34+14954_-34+15063del	ZBTB46	ENSG00000130584.12	transcript	ENST00000245663.9	protein_coding	1/4			chr20	TogoVar
ZC3H3_chr8_143432659_143546447	143439837	AGGGGGGC others(103): Show AGGGGGGCCCTGGGGGCCTGAGCCAGGCCATGCTGCCTACCTGAGTCCTT GGTGAGGGAGGCCCTGGGGGCCCGAGCCAGGCCATGCTGCCTACCTGAGT CCTTGCTGAGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02135.hp2 HG03927.hp2 others(3): Show HG00735.hp1 HG02135.hp2 HG03927.hp2 HG04199.hp2 NA18956.hp1 NA20752.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0004 a0005c0005 a0002c0002 a0004c0004 a0005c0005	a0002c0002t0001 a0004c0004t0001 a0004c0004t0002 others(1): Show a0002c0002t0001 a0004c0004t0001 a0004c0004t0002 a0005c0005t0001	a0002c0002t0001g0338 a0002c0002t0001g0339 a0004c0004t0001g0266 others(3): Show a0002c0002t0001g0338 a0002c0002t0001g0339 a0004c0004t0001g0266 a0004c0004t0001g0282 a0004c0004t0002g0283 a0005c0005t0001g0214	6	349	0.0172	-110	c.281 others(16): Show c.2815+94_2815+203del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	11/11			chr8	TogoVar
ZDHHC21_chr9_14606071_14698432	14632558	ACACAAAA others(103): Show ACACAAAAAGCATATACTACCCAAGAAAAAAATAAATTGAAACAATAAAA AGTACTAATTTTGTGCTTCAAAGACACTGTTAATAAAGTGAAAATATAAC TAAGAGAATGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(103): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0001t0114 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0002t0022 a0001c0002t0036 a0001c0002t0042 a0001c0002t0050 a0001c0002t0097 a0001c0003t0004 a0001c0003t0019 a0001c0003t0048 a0001c0003t0083 a0001c0005t0018 a0002c0004t0058	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(284): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0353 a0001c0001t0002g0357 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0364 a0001c0001t0002g0367 a0001c0001t0002g0369 a0001c0001t0004g0015 a0001c0001t0004g0122 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0004g0145 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0189 a0001c0001t0006g0030 a0001c0001t0006g0233 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0006g0328 a0001c0001t0006g0333 a0001c0001t0006g0345 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0352 a0001c0001t0006g0358 a0001c0001t0006g0363 a0001c0001t0006g0365 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0240 a0001c0001t0007g0242 a0001c0001t0007g0254 a0001c0001t0007g0256 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0007g0321 a0001c0001t0008g0058 a0001c0001t0009g0032 a0001c0001t0009g0033 a0001c0001t0009g0034 a0001c0001t0009g0133 a0001c0001t0009g0137 a0001c0001t0009g0224 a0001c0001t0009g0227 a0001c0001t0009g0228 a0001c0001t0010g0031 a0001c0001t0010g0064 a0001c0001t0010g0065 a0001c0001t0010g0067 a0001c0001t0010g0125 a0001c0001t0010g0159 a0001c0001t0010g0232 a0001c0001t0012g0014 a0001c0001t0012g0069 a0001c0001t0012g0072 a0001c0001t0012g0073 a0001c0001t0012g0075 a0001c0001t0012g0120 a0001c0001t0016g0121 a0001c0001t0016g0123 a0001c0001t0016g0124 a0001c0001t0016g0134 a0001c0001t0016g0207 a0001c0001t0017g0002 a0001c0001t0017g0106 a0001c0001t0017g0108 a0001c0001t0018g0157 a0001c0001t0018g0174 a0001c0001t0018g0204 a0001c0001t0018g0205 a0001c0001t0019g0101 a0001c0001t0019g0102 a0001c0001t0020g0050 a0001c0001t0020g0061 a0001c0001t0021g0037 a0001c0001t0021g0038 a0001c0001t0021g0181 a0001c0001t0021g0183 a0001c0001t0021g0185 a0001c0001t0022g0234 a0001c0001t0022g0307 a0001c0001t0022g0326 a0001c0001t0022g0349 a0001c0001t0023g0023 a0001c0001t0023g0282 a0001c0001t0023g0297 a0001c0001t0023g0374 a0001c0001t0025g0013 a0001c0001t0025g0111 a0001c0001t0025g0112 a0001c0001t0026g0163 a0001c0001t0026g0164 a0001c0001t0026g0165 a0001c0001t0026g0166 a0001c0001t0028g0310 a0001c0001t0028g0323 a0001c0001t0028g0344 a0001c0001t0028g0368 a0001c0001t0029g0025 a0001c0001t0029g0026 a0001c0001t0031g0132 a0001c0001t0031g0135 a0001c0001t0031g0136 a0001c0001t0032g0171 a0001c0001t0032g0175 a0001c0001t0032g0198 a0001c0001t0033g0074 a0001c0001t0033g0079 a0001c0001t0033g0119 a0001c0001t0034g0055 a0001c0001t0034g0230 a0001c0001t0034g0231 a0001c0001t0036g0267 a0001c0001t0036g0375 a0001c0001t0037g0329 a0001c0001t0037g0330 a0001c0001t0037g0331 a0001c0001t0039g0005 a0001c0001t0040g0225 a0001c0001t0040g0226 a0001c0001t0042g0068 a0001c0001t0043g0158 a0001c0001t0043g0160 a0001c0001t0044g0115 a0001c0001t0044g0116 a0001c0001t0045g0099 a0001c0001t0045g0100 a0001c0001t0046g0076 a0001c0001t0046g0077 a0001c0001t0050g0139 a0001c0001t0051g0024 a0001c0001t0053g0372 a0001c0001t0053g0373 a0001c0001t0054g0201 a0001c0001t0055g0184 a0001c0001t0056g0036 a0001c0001t0057g0051 a0001c0001t0059g0066 a0001c0001t0061g0229 a0001c0001t0062g0035 a0001c0001t0063g0056 a0001c0001t0064g0060 a0001c0001t0065g0059 a0001c0001t0067g0057 a0001c0001t0068g0114 a0001c0001t0069g0109 a0001c0001t0070g0107 a0001c0001t0071g0162 a0001c0001t0072g0180 a0001c0001t0073g0176 a0001c0001t0074g0199 a0001c0001t0075g0110 a0001c0001t0076g0188 a0001c0001t0077g0154 a0001c0001t0078g0218 a0001c0001t0079g0202 a0001c0001t0080g0143 a0001c0001t0081g0149 a0001c0001t0082g0178 a0001c0001t0084g0130 a0001c0001t0085g0117 a0001c0001t0086g0078 a0001c0001t0087g0118 a0001c0001t0091g0113 a0001c0001t0092g0070 a0001c0001t0093g0203 a0001c0001t0095g0356 a0001c0001t0096g0366 a0001c0001t0098g0313 a0001c0001t0099g0277 a0001c0001t0100g0322 a0001c0001t0101g0327 a0001c0001t0102g0336 a0001c0001t0103g0354 a0001c0001t0104g0359 a0001c0001t0105g0340 a0001c0001t0106g0347 a0001c0001t0107g0284 a0001c0001t0108g0355 a0001c0001t0109g0311 a0001c0001t0110g0343 a0001c0001t0111g0300 a0001c0001t0113g0370 a0001c0001t0114g0371 a0001c0001t0119g0252 a0001c0001t0120g0302 a0001c0001t0121g0253 a0001c0001t0123g0255 a0001c0002t0002g0027 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0332 a0001c0002t0008g0012 a0001c0002t0008g0087 a0001c0002t0008g0089 a0001c0002t0008g0090 a0001c0002t0008g0092 a0001c0002t0008g0093 a0001c0002t0008g0094 a0001c0002t0008g0098 a0001c0002t0011g0011 a0001c0002t0011g0086 a0001c0002t0011g0088 a0001c0002t0011g0095 a0001c0002t0011g0096 a0001c0002t0011g0097 a0001c0002t0022g0348 a0001c0002t0036g0266 a0001c0002t0042g0091 a0001c0002t0050g0182 a0001c0002t0097g0299 a0001c0003t0004g0211 a0001c0003t0004g0212 a0001c0003t0004g0213 a0001c0003t0004g0215 a0001c0003t0004g0216 a0001c0003t0019g0103 a0001c0003t0019g0104 a0001c0003t0019g0105 a0001c0003t0048g0062 a0001c0003t0048g0063 a0001c0003t0083g0214 a0001c0005t0018g0049 a0002c0004t0058g0042	315	412	0.7646	-110	c.621 others(17): Show c.621+7228_621+7337del	ZDHHC21	ENSG00000175893.12	transcript	ENST00000380916.9	protein_coding	8/9			chr9	TogoVar
ZNF714_chr19_21077203_21130094	21107517	GTGTAAGC others(103): Show GTGTAAGCCACCACACCCAGCCATAGACAAGATTTCTATAATGAAACTGT ACTTTTGGGATTTTTAAAGAGCTTATATTGAATTTGTTTCCCACTGTAGT TTGTACTGACA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp1 others(17): Show HG01123.hp2 HG01167.hp1 HG01169.hp1 HG02055.hp1 HG02258.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA20300.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0005 a0003c0003t0017 others(1): Show a0003c0003t0003 a0003c0003t0005 a0003c0003t0017 a0003c0003t0028	a0003c0003t0003g0045 a0003c0003t0003g0072 a0003c0003t0005g0011 others(14): Show a0003c0003t0003g0045 a0003c0003t0003g0072 a0003c0003t0005g0011 a0003c0003t0005g0012 a0003c0003t0005g0013 a0003c0003t0005g0014 a0003c0003t0005g0044 a0003c0003t0005g0046 a0003c0003t0005g0048 a0003c0003t0005g0049 a0003c0003t0005g0050 a0003c0003t0005g0051 a0003c0003t0005g0052 a0003c0003t0005g0054 a0003c0003t0017g0047 a0003c0003t0017g0053 a0003c0003t0028g0013	20	288	0.0694	-110	c.142 others(17): Show c.142+8609_142+8718del	ZNF714	ENSG00000160352.16	transcript	ENST00000456283.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF723_chr19_22827291_22863667	22862517	TGTAATAT others(103): Show TGTAATATAATATATAATATATGTAATATAATATATATTATATATGTAAT ATAATATATATTATATATGTAATATAATATATATTATATATGTAATATAA TATATTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18980.hp1 NA18955.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0241 a0002c0002t0002g0008 a0002c0002t0002g0241	2	357	0.0056	-110	c.40 others(11): Show c.4085_*4194del	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3851		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1236475	GATGGTGA others(102): Show GATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGG AGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACAT GCCTGCATTT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0059 a0001c0001t0031g0059	1	99	0.0101	-109	c.136 others(19): Show c.1362-2739_1362-2631del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGO3_chr1_35926105_36077500	36076737	CATCTTTT others(102): Show CATCTTTTTATATTTTGTTTTGTAAGTTTAATCTTAATTTTTTCCAATTT ATATTTGTGCTTGTATAAAGATTTTAGACTATGAAAGTTTGCCATCTGTG GTATCCCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0190 a0001c0001t0040g0190	1	256	0.0039	-109	c.20 others(13): Show c.20993_*21101del	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding		4238		chr1	TogoVar
ANO2_chr12_5557655_5950259	5902701	GGGGAGGG others(102): Show GGGGAGGGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAA GGGAGGGGAGGGGAGGGGAAGGGAGGGGAGGAGAGGGGAGGGGATGGGAT GGGATGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA21309.hp1 HG02723.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0008 a0001c0001t0001 a0002c0003t0008	a0001c0001t0001g0063 a0002c0003t0008g0050 a0001c0001t0001g0063 a0002c0003t0008g0050	2	160	0.0125	-109	c.534 others(19): Show c.534+18230_534+18338del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ATP11A_chr13_112685038_112892168	112803943	CCCTCCTT others(102): Show CCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCC CTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTT CCCTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0197 a0001c0002t0014g0197	1	251	0.0040	-109	c.163 others(16): Show c.163-1006_163-898del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BEST3_chr12_69648609_69704303	69665000	CTAAAAGG others(102): Show CTAAAAGGGATGCCAAGTCACACAGTGGACAGCACTACAGCGAACACCAG AGGGAGTCTTAATGGCTCTGTCCAAACAAGGCCAGGGTACAGCAGCAAAG TGAAATTCAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(97): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18940.hp1 NA18947.hp1 NA18949.hp1 NA18953.hp2 NA18966.hp2 NA18979.hp2 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp1 NA19001.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19082.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0002c0002 a0007c0012 others(1): Show a0001c0001 a0002c0002 a0007c0012 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0002c0002t0002 a0007c0012t0002 a0009c0011t0002	a0001c0001t0001g0201 a0001c0001t0001g0282 a0001c0001t0001g0285 others(89): Show a0001c0001t0001g0201 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0300 a0001c0001t0002g0012 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0065 a0001c0001t0002g0083 a0001c0001t0002g0110 a0001c0001t0002g0166 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0008g0013 a0001c0001t0009g0043 a0001c0001t0009g0045 a0001c0001t0013g0286 a0001c0001t0014g0297 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0007c0012t0002g0311 a0009c0011t0002g0258	100	357	0.2801	-109	c.110 others(19): Show c.1100+6319_1100+6427del	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	9/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69665142	ACTACAGC others(102): Show ACTACAGCGAACACCAGAGGGAGTCTTAATGGCTCTGTCCAAACAAGGCC AGGGTACAGCAGCAAAGTGAAATTCAGTAAAAGGGATGCCAAGTCACACA GTGGACAGCT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02056.hp1 HG03704.hp1 others(2): Show HG02027.hp1 HG02056.hp1 HG03704.hp1 NA18974.hp2 NA18994.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0071 a0001c0001t0001g0093 a0001c0001t0001g0096 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0274 a0006c0008t0001g0124	5	364	0.0137	-109	c.110 others(19): Show c.1100+6177_1100+6285del	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	9/9			chr12	TogoVar
BTBD19_chr1_44803523_44820585	44816486	TTATATAT others(102): Show TTATATATACACATAGATGTGAGTATATTATATATACACATAGATGTGTG TATATTATATATACACATAGATGTGTGTATATATTATATATACACATAGA TGTGTGTGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG00673.hp2 others(36): Show HG00544.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01346.hp1 HG01358.hp1 HG02074.hp1 HG02132.hp1 HG02148.hp2 HG02258.hp1 HG02647.hp2 HG04184.hp1 HG04184.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp2 NA18977.hp1 NA18978.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19067.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 others(9): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0026 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0076	a0001c0001t0008g0005 a0001c0001t0008g0008 a0001c0001t0008g0030 others(23): Show a0001c0001t0008g0005 a0001c0001t0008g0008 a0001c0001t0008g0030 a0001c0001t0008g0040 a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0010g0005 a0001c0001t0010g0008 a0001c0001t0010g0038 a0001c0001t0012g0005 a0001c0001t0012g0008 a0001c0001t0012g0031 a0001c0001t0012g0041 a0001c0001t0012g0042 a0001c0001t0015g0005 a0001c0001t0015g0008 a0001c0001t0026g0005 a0001c0001t0026g0030 a0001c0001t0038g0008 a0001c0001t0039g0008 a0001c0001t0040g0008 a0001c0001t0066g0005 a0001c0001t0067g0039 a0001c0001t0068g0008 a0001c0001t0076g0046	39	434	0.0899	-109	c.27 others(11): Show c.2715_*2823del	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		902		chr1	TogoVar
C7orf50_chr7_992006_1143247	1117292	TGATGACA others(102): Show TGATGACATCACTACAGCTCTACAGACCGGCTTCCATCACCGACGCCCAC GCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCAAC GCCCACGCAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02451.hp1 others(14): Show HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 others(3): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0002c0002t0003 a0002c0002t0018	a0001c0001t0005g0308 a0001c0001t0005g0311 a0001c0001t0011g0306 others(14): Show a0001c0001t0005g0308 a0001c0001t0005g0311 a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0012g0305 a0001c0001t0012g0309 a0001c0001t0012g0310 a0001c0001t0012g0318 a0001c0001t0015g0316 a0001c0001t0015g0317 a0002c0002t0003g0288 a0002c0002t0003g0312 a0002c0002t0003g0314 a0002c0002t0003g0319 a0002c0002t0003g0320 a0002c0002t0018g0202 a0002c0002t0018g0203	17	324	0.0525	-109	c.129 others(17): Show c.129+9856_129+9964del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNG7_chr19_53904278_53948950	53922039	TCCCCAGG others(102): Show TCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAG TTGTCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGG TGGAGTTGTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00639.hp2 others(30): Show HG00140.hp2 HG00323.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01243.hp1 HG01255.hp2 HG02109.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03486.hp2 HG03516.hp2 HG04204.hp1 HG04228.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0023	a0001c0001t0001g0008 a0001c0001t0001g0101 a0001c0001t0001g0210 others(29): Show a0001c0001t0001g0008 a0001c0001t0001g0101 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0039 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0004g0216 a0001c0001t0005g0340 a0001c0001t0007g0072 a0001c0001t0011g0341 a0001c0001t0013g0013 a0001c0001t0023g0213	33	351	0.0940	-109	c.424 others(17): Show c.424+6538_424+6646del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923332	GCCCCAGG others(102): Show GCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGG AGTTGTCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTATTG GTGGAGTTGT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	363	0.0028	-109	c.424 others(17): Show c.424+7855_424+7963del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CASP3_chr4_184622696_184654447	184652945	AAGGAAGG others(102): Show AAGGAAGGAAGGAAAGAAGGGAAAGAAGAGGGAGGGAGGAAGGAAGGAAG GAAGAAGGGAAGGAAGGAAGGAAAGAAGGGAAAGAAGAGGGAGGGAGGAA GGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(166): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19075.hp1 NA19077.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0003t0001 a0002c0002t0006	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(107): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0044 a0001c0001t0002g0192 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0017 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0111 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0152 a0001c0001t0004g0016 a0001c0001t0004g0037 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0006g0029 a0001c0001t0006g0225 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0007g0098 a0001c0001t0008g0012 a0001c0001t0008g0065 a0001c0001t0009g0011 a0001c0001t0010g0052 a0001c0001t0010g0233 a0001c0001t0010g0234 a0001c0001t0011g0093 a0001c0001t0013g0235 a0001c0001t0014g0105 a0001c0001t0015g0110 a0001c0001t0016g0114 a0001c0001t0018g0125 a0001c0001t0019g0132 a0001c0003t0001g0069 a0002c0002t0006g0053	169	364	0.4643	-109	c.-38 others(11): Show c.-3842_-3734del	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		3499		chr4	TogoVar
CCDC102A_chr16_57507181_57541571	57537349	AAGATGGT others(102): Show AAGATGGTGGGGAAAACCTGGCCTGATTGGGATTTTACCTAGAAAAAGAA GCTAAATATTACGAAGATAAATTAGTTTTACCCCGTGATTAACGGAGTTT AGATTATGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0172 a0001c0002t0007g0172	1	414	0.0024	-109	c.-11 others(10): Show c.-1106_-998del	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding		779		chr16	TogoVar
CCDC102B_chr18_68793080_69060189	68956463	ATATATAT others(102): Show ATATATATATTATATATATATAATATATATATAAAATATATAATATATAT ATCGCATATTATATATATTATATATTTTATATATATAAATATTATATATA TTATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02630.hp2 others(10): Show HG01109.hp2 HG02451.hp1 HG02630.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03471.hp2 HG03710.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18941.hp2 NA18981.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0008 a0012 a0015 a0022	a0001c0001 a0001c0007 a0002c0002 others(8): Show a0001c0001 a0001c0007 a0002c0002 a0003c0004 a0004c0006 a0004c0020 a0007c0010 a0008c0013 a0012c0014 a0015c0019 a0022c0028	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(9): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0003c0004t0001 a0004c0006t0004 a0004c0020t0001 a0007c0010t0002 a0008c0013t0002 a0012c0014t0001 a0012c0014t0006 a0015c0019t0001 a0022c0028t0002	a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0007t0001g0005 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0007t0001g0005 a0002c0002t0001g0187 a0003c0004t0001g0162 a0004c0006t0004g0089 a0004c0020t0001g0159 a0007c0010t0002g0090 a0008c0013t0002g0019 a0012c0014t0001g0086 a0012c0014t0006g0080 a0015c0019t0001g0121 a0022c0028t0002g0022	13	214	0.0607	-109	c.126 others(21): Show c.1264-54461_1264-54353del	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH19_chr18_66496083_66609090	66589599	TAAATTTA others(102): Show TAAATTTACTCTACTATCAAAAATAATACTTAGTAAGCACCACTGCCAAA TGGTATAGAAAGTACTATTTTGTTATGGAAAAGATATAATATAAACATGA TTTTATAAAA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0034 a0002c0004t0034	a0002c0004t0034g0113 a0002c0004t0034g0113	1	352	0.0028	-109	c.-11 others(21): Show c.-113+14246_-113+14354del	CDH19	ENSG00000071991.9	transcript	ENST00000262150.7	protein_coding	1/11			chr18	TogoVar
CMC4_chrX_155056622_155076136	155057012	TGAGGTCA others(102): Show TGAGGTCAGTATTGCAGGTTGGCCTCATCCTGCTAGTATGAGAACGGCTG TGAGTTCTGCCCACGGTGTGAGGCCACTGTGACCACTTGGGATTGTGCAG AGCTGGCATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01361.hp1 HG01081.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	290	0.0069	-109	c.47 others(11): Show c.4722_*4830del	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		4609		chrX	TogoVar
CMTM8_chr3_32233680_32375321	32276990	TCCTCTTG others(102): Show TCCTCTTGCCTCGACCTCCCAATAAGCTGGGACTACAGGCACATCCCACC ATCCCCGGCTAAGTTACTATTTTTTTTGTAGAGATTGGGGTCTCACCATG TTGCCCAGGC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18999.hp1 NA18942.hp2 NA18999.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0198 a0003c0003t0002g0199 a0003c0003t0002g0198 a0003c0003t0002g0199	2	342	0.0058	-109	c.147 others(19): Show c.147+37873_147+37981del	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COBL_chr7_51011212_51321809	51113432	TCTCCAAT others(102): Show TCTCCAATAATATTCTATCCTCTCTTAAAAAACATTGTTAAGAAAGTTTT TAGTCACTGGAAGCTTTTACTGTCACTCAATTCCACGGCTTAAAATTACT AAAGTGGTTC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0032 a0001c0019t0001g0032	1	228	0.0044	-109	c.957 others(19): Show c.957+22617_957+22725del	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45507071	TGGGTGCT others(102): Show TGGGTGCTGGGCAGGGAGGGCAACCTGCCGTGGACTGGGAGGGCTGGGTG CTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGG AGGGAGAGGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp2 NA20300.hp2 HG02559.hp2 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0025 a0001c0001t0001g0186 a0001c0001t0001g0195	3	290	0.0103	-109	c.321 others(17): Show c.3217-468_3217-360del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	37/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL26A1_chr7_101357875_101564024	101489647	TTCTTTCT others(102): Show TTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT CTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCT TTCTTGTCTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0161 a0001c0005t0011g0161	1	170	0.0059	-109	c.385 others(19): Show c.385+41877_385+41985del	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COLEC12_chr18_311737_505701	433192	AAATAAGA others(102): Show AAATAAGAAGCAGCACTTATTTCAGTCTGAGCTTACATTTTTTTCCTATG AGGGAAAAAAGGATCAAGTCATATCATTAAAATGGTTGAGCACTTGCTAT CAATTTTGCT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0056 a0001c0005t0056	a0001c0005t0056g0356 a0001c0005t0056g0356	1	364	0.0027	-109	c.58+ others(17): Show c.58+47406_58+47514del	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COP1_chr1_175939831_176212286	176132991	TACGTATA others(102): Show TACGTATATATACTATATATACACACATATACACATATGTACGTATATAT ACTATATATACACACATATACACATATGTACGTATATATACTATATATAC ACACATATAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	298	0.0034	-109	c.968 others(17): Show c.968+1910_968+2018del	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
CPLX1_chr4_779957_831129	826379	GCGGGGGC others(102): Show GCGGGGGCGGGGGGTGGACCCGGGGCGGGGGCGGGGGTGGACCCGGGGGC GGGGGCGGGGGGCGGGGGCGGGGGCGGGGGGTGGACCCGGGGCGGGGGCG GGGGTGGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(42): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01175.hp1 HG01433.hp2 HG02015.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02523.hp2 HG03209.hp1 HG03471.hp2 HG03491.hp2 HG03834.hp2 HG04199.hp1 NA18612.hp2 NA18943.hp1 NA18948.hp1 NA18959.hp2 NA18963.hp1 NA18971.hp2 NA18974.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp1 NA19079.hp1 NA19082.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0022	a0001c0001t0001g0011 a0001c0001t0001g0138 a0001c0001t0001g0142 others(41): Show a0001c0001t0001g0011 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0387 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0174 a0001c0001t0004g0167 a0001c0001t0006g0129 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0143 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0151 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0169 a0001c0001t0007g0154 a0001c0001t0010g0010 a0001c0001t0010g0146 a0001c0001t0010g0152 a0001c0001t0022g0346	45	411	0.1095	-109	c.-52 others(9): Show c.-522_-414del	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		251		chr4	TogoVar
CPPED1_chr16_12654799_12808887	12671686	AACGCCAT others(102): Show AACGCCATATATGAAGGTGGTCCCATAAGATTATAATGCTGTATTTTCAC TGTACCTTCTCTATGTCTAGATACACAAATCCCTACCATGGACGTTTTAG TCAATGATGG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0001 a0002c0002t0014g0001	2	288	0.0069	-109	c.716 others(17): Show c.716-6680_716-6572del	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	3/3			chr16	TogoVar
CTBP1_chr4_1206445_1254130	1240401	GGGGGACT others(102): Show GGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTCGGAAC CGCGTGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTC GGAACCGCGT	G G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	420	0.0024	-109	c.7+8 others(11): Show c.7+815_7+923del	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9			chr4	TogoVar
CTBP1_chr4_1206445_1254130	1240482	GGGAACCG others(102): Show GGGAACCGGGTCCCTCGTCGGAACCGCGTGGGGGACTCCCGGGTGCTGGG TGAGTGGGAACCGGGTCCCTCGTCGGAACCGCGTGGGGGACTCCCGGGTG CTGGGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	420	0.0024	-109	c.7+7 others(11): Show c.7+734_7+842del	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9			chr4	TogoVar
CTBP1_chr4_1206445_1254130	1240537	GGGAACCG others(102): Show GGGAACCGGGTCCCTCGTCGGAACCGCGTGGGGGACTCCCGGGTGCTGGG TGAGTGGGAACCGGGTCCCTCGTCGGAACCGCGTGGGGGACTCCCGGGTG CTGGGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	420	0.0024	-109	c.7+6 others(11): Show c.7+679_7+787del	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9			chr4	TogoVar
CYLC2_chr9_102990333_103023488	103014781	CAATATAC others(102): Show CAATATACATATGTAATATACGTATGTATATTATGCAATATACATATGTA ATATACGTATGTATATTATGCAATATACATAATATATGTAATATACTATG TATATTATGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03471.hp2 NA18906.hp1 HG02809.hp1 HG03471.hp2 NA18906.hp1	a0001 a0012 a0001 a0012	a0001c0005 a0012c0012 a0001c0005 a0012c0012	a0001c0005t0040 a0012c0012t0057 a0001c0005t0040 a0012c0012t0057	a0001c0005t0040g0162 a0001c0005t0040g0163 a0012c0012t0057g0200 a0001c0005t0040g0162 a0001c0005t0040g0163 a0012c0012t0057g0200	3	446	0.0067	-109	c.81 others(19): Show c.817-2096_*817-1988del	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK2_chr4_150073445_150262438	150195196	CAATATTA others(102): Show CAATATTATATATTATATACAATATTATATATTATATAAACAATATTATA TATTATATATTATATTATATATTATATATTATATTATATATTATATTATA TATTATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA21309.hp1 HG02451.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0027 a0001c0001t0007g0111 a0001c0001t0007g0027 a0001c0001t0007g0111	2	73	0.0274	-109	c.859 others(17): Show c.859+1957_859+2065del	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	3/15			chr4	TogoVar
DDX51_chr12_132131594_132149319	132135615	CACGGTGC others(102): Show CACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCG AGTGTGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0030	-109	c.35 others(11): Show c.3548_*3656del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		978		chr12	TogoVar
DHRS12_chr13_51762993_51809163	51774675	TGTATTCT others(102): Show TGTATTCTACAGTATTCTCCTACAGTATTCTACTACATGTATTCTCCTAC AGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTCCTACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02004.hp1 HG01891.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0079 a0002c0002t0003g0210 a0002c0002t0003g0079 a0002c0002t0003g0210	2	418	0.0048	-109	c.364 others(15): Show c.364-750_364-642del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775225	TGTATTCT others(102): Show TGTATTCTACAGTATTCTCCTACAGTATTCTACTACATGTATTCTCCTAC AGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTCCTACA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01255.hp2 others(29): Show HG01106.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02698.hp1 HG02738.hp2 HG02922.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03688.hp2 HG04184.hp2 NA18906.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0182 a0002c0002t0003g0013 a0002c0002t0003g0021 others(24): Show a0002c0002t0001g0182 a0002c0002t0003g0013 a0002c0002t0003g0021 a0002c0002t0003g0025 a0002c0002t0003g0051 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0165 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0003g0208 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0218 a0002c0002t0003g0233 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0003g0242 a0002c0002t0003g0246 a0002c0002t0003g0306 a0002c0002t0003g0310	32	418	0.0766	-109	c.364 others(17): Show c.364-1300_364-1192del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775500	TGTATTCT others(102): Show TGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTAC AGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTCCTACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp1 HG02004.hp2 others(1): Show HG01891.hp1 HG01952.hp1 HG02004.hp2 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0025 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0025 a0002c0002t0003g0079 a0002c0002t0003g0081	4	413	0.0097	-109	c.363 others(17): Show c.363+1451_364-1467del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DLGAP2_chr8_732628_1713476	993314	CTTCTCTC others(102): Show CTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCC TGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAG TTCCTGTTCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	40	0.0250	-109	c.73+ others(17): Show c.73+85350_73+85458del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33190885	TAATATTA others(102): Show TAATATTATATATTATATAATATATAATATTATATATATAATATTATATA TATATATAATATATAATATTATATATATATATAATATATAATATTATATA TATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0021 a0021	a0021c0060 a0021c0060	a0021c0060t0001 a0021c0060t0001	a0021c0060t0001g0113 a0021c0060t0001g0113	1	34	0.0294	-109	c.31+ others(17): Show c.31+20288_31+20396del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33190896	ATTATATA others(102): Show ATTATATAATATATAATATTATATATATAATATTATATATATATATAATA TATAATATTATATATATATATAATATATAATATTATATATATATATATAA TATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp2 HG02717.hp1 HG03486.hp2	a0008 a0027 a0008 a0027	a0008c0011 a0027c0044 a0008c0011 a0027c0044	a0008c0011t0005 a0027c0044t0003 a0008c0011t0005 a0027c0044t0003	a0008c0011t0005g0117 a0027c0044t0003g0122 a0008c0011t0005g0117 a0027c0044t0003g0122	2	118	0.0169	-109	c.31+ others(17): Show c.31+20277_31+20385del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DNAH9_chr17_11593470_11974748	11694703	TCTCTCTC others(102): Show TCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0075 a0075	a0075c0145 a0075c0145	a0075c0145t0001 a0075c0145t0001	a0075c0145t0001g0013 a0075c0145t0001g0013	1	168	0.0060	-109	c.487 others(17): Show c.4872+257_4872+365del	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DPYSL4_chr10_132181948_132210759	132191049	GCTGGTCA others(102): Show GCTGGTCACATGGTATCCAGGCAGGTGCAAATAGTTCCCAGCTCGTGTGT ACACGCTGGCCACGTGGTATCCAGGCAGTTGAAAGTATGTTCCCACCTCT TGTGTACACA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp2 HG03041.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0003 a0001c0013t0003 a0001c0001t0003 a0001c0013t0003	a0001c0001t0003g0182 a0001c0013t0003g0181 a0001c0001t0003g0182 a0001c0013t0003g0181	2	416	0.0048	-109	c.128 others(15): Show c.128+223_128+331del	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DYNC2H1_chr11_103104426_103484863	103314658	TGGAGAAT others(102): Show TGGAGAATGTCACTTTTTTTCATACCATACTGTTGTTGTCATAAAAATCA TAACACTGGAGGTAAATGTAGACAAAATATATATACCTATGACATGGTCT CTAACAATAG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0025 a0025	a0025c0042 a0025c0042	a0025c0042t0001 a0025c0042t0001	a0025c0042t0001g0065 a0025c0042t0001g0065	1	260	0.0038	-109	c.116 others(21): Show c.11650-1886_11650-1778del	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	79/88			chr11	TogoVar
EIPR1_chr2_3183970_3382818	3242253	GCCACTGA others(102): Show GCCACTGACGGCTGGAAGACAGAGATTTCAGGCCCCTAACTCCACACCAC ACACCTGGCAGCAGCCACCGATGGCTGGAAGACAGAGATTTCAGGCCCCC GACTCCACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(214): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(214): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0207 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0046 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0091 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0008 a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0075 a0001c0001t0009g0248 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0004t0001g0074 a0001c0005t0001g0104 a0001c0006t0003g0203	217	248	0.8750	-109	c.416 others(19): Show c.416+14937_416+15045del	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EMC2_chr8_108438624_108494196	108492345	CAGGTTTA others(102): Show CAGGTTTAGCTACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCC ACTATACTCCAGCCTGGGTGACAGAACGAGGCTGTCTCAAAAAAAAAAAA AAAAAAAAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02615.hp2 others(1): Show HG01243.hp1 HG02145.hp2 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0159 a0001c0001t0004g0164 others(1): Show a0001c0001t0004g0031 a0001c0001t0004g0159 a0001c0001t0004g0164 a0001c0001t0004g0167	4	362	0.0110	-109	c.57 others(11): Show c.5748_*5856del	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		3150		chr8	TogoVar

Search by Variant

Search

Search Results