JoGo: Joint Open Genome and Omics Platform

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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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
CFAP47_chrX_35914734_36390317	36364901	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02559.hp1 HG02922.hp1 others(5): Show HG01255.hp1 HG02559.hp1 HG02922.hp1 HG03209.hp1 HG03225.hp1 NA18906.hp2 NA20300.hp2 NA21309.hp2	a0017 a0031 a0034 others(4): Show a0017 a0031 a0034 a0041 a0046 a0049 a0052	a0017c0020 a0031c0034 a0034c0037 others(4): Show a0017c0020 a0031c0034 a0034c0037 a0041c0075 a0046c0047 a0049c0058 a0052c0060	a0017c0020t0001 a0031c0034t0001 a0034c0037t0001 others(4): Show a0017c0020t0001 a0031c0034t0001 a0034c0037t0001 a0041c0075t0001 a0046c0047t0001 a0049c0058t0001 a0052c0060t0001	a0017c0020t0001g0211 a0017c0020t0001g0212 a0031c0034t0001g0107 others(5): Show a0017c0020t0001g0211 a0017c0020t0001g0212 a0031c0034t0001g0107 a0034c0037t0001g0014 a0041c0075t0001g0135 a0046c0047t0001g0049 a0049c0058t0001g0207 a0052c0060t0001g0208	8	216	0.0370	-30	c.902 others(49): Show c.9024-2051_9024-2022delTATATATATATATATATATATATATA TATA		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	61/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9636181	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03471.hp2 HG02895.hp2 HG02897.hp1 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0001 a0001c0004t0004g0199 a0001c0004t0004g0001 a0001c0004t0004g0199	3	316	0.0095	-30	c.147 others(47): Show c.1472+627_1472+656delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP54_chr12_96484577_96880555	96495228	CTTTTCTT others(23): Show CTTTTCTTTTCTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0016 a0005c0015t0001g0016	1	268	0.0037	-30	c.317 others(47): Show c.317+5304_317+5333delTTTCTTTTCTCCTTCCTTCCTTCCTTCC TT		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	1/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96704452	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19240.hp1 HG02976.hp1 NA19240.hp1	a0012 a0048 a0012 a0048	a0012c0097 a0048c0061 a0012c0097 a0048c0061	a0012c0097t0001 a0048c0061t0001 a0012c0097t0001 a0048c0061t0001	a0012c0097t0001g0196 a0048c0061t0001g0017 a0012c0097t0001g0196 a0048c0061t0001g0017	2	268	0.0075	-30	c.647 others(47): Show c.6475-271_6475-242delATATATATATATATATATATATATATAT AT		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	46/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104357806	CATATATA others(23): Show CATATATATGTACATATATACACATATATGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	308	0.0033	-30	c.10- others(43): Show c.10-533_10-504delTATATATGTACATATATACACATATATGTA		CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP58_chr10_104348833_104460102	104357953	ATACACAT others(23): Show ATACACATATATGTACACATATGTACATATG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	308	0.0033	-30	c.10- others(43): Show c.10-366_10-337delGTACATATGTACACATATATGTACACATAT		CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP58_chr10_104348833_104460102	104396369	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG01070.hp1 others(14): Show HG00558.hp2 HG00597.hp1 HG01070.hp1 HG01071.hp2 HG01243.hp1 HG01243.hp2 HG01516.hp2 HG02040.hp2 HG02129.hp1 HG02486.hp1 HG03688.hp2 NA18946.hp1 NA18961.hp1 NA18972.hp1 NA18981.hp2 NA19088.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0003 a0001c0004 a0002c0002 others(2): Show a0001c0003 a0001c0004 a0002c0002 a0004c0009 a0005c0006	a0001c0003t0002 a0001c0004t0001 a0002c0002t0001 others(2): Show a0001c0003t0002 a0001c0004t0001 a0002c0002t0001 a0004c0009t0002 a0005c0006t0001	a0001c0003t0002g0125 a0001c0003t0002g0140 a0001c0003t0002g0145 others(14): Show a0001c0003t0002g0125 a0001c0003t0002g0140 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0187 a0001c0003t0002g0193 a0001c0003t0002g0226 a0001c0003t0002g0244 a0001c0004t0001g0091 a0002c0002t0001g0058 a0002c0002t0001g0124 a0002c0002t0001g0160 a0002c0002t0001g0246 a0002c0002t0001g0270 a0002c0002t0001g0271 a0004c0009t0002g0304 a0005c0006t0001g0136	17	308	0.0552	-30	c.167 others(49): Show c.1674+2935_1675-2921delGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA		CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP58_chr10_104348833_104460102	104438344	TTTTGTTT others(23): Show TTTTGTTTTTTTTTTTTGTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02486.hp1 HG03834.hp1 others(1): Show HG00323.hp2 HG02486.hp1 HG03834.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0091 a0001c0004t0001g0114 a0001c0004t0001g0172 others(1): Show a0001c0004t0001g0091 a0001c0004t0001g0114 a0001c0004t0001g0172 a0001c0004t0001g0299	4	308	0.0130	-30	c.225 others(49): Show c.2257-9350_2257-9321delGTTTTTTTTTTTTGTTTTTTTTTTTT GTTT		CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20175489	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(113): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18981.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19070.hp2 NA19090.hp1 NA19090.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0007 a0009 a0011 a0012 a0015 a0016 a0018 a0024 a0025 a0026	a0001c0001 a0001c0003 a0001c0006 others(21): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0012 a0001c0045 a0002c0002 a0002c0004 a0002c0022 a0002c0032 a0002c0035 a0003c0005 a0003c0046 a0004c0008 a0007c0010 a0009c0014 a0011c0018 a0012c0019 a0015c0047 a0016c0033 a0018c0036 a0024c0029 a0025c0028 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0006 a0001c0007t0002 a0001c0012t0002 a0001c0012t0006 a0001c0045t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0006 a0002c0022t0002 a0002c0032t0001 a0002c0035t0001 a0003c0005t0001 a0003c0005t0002 a0003c0046t0001 a0004c0008t0001 a0004c0008t0002 a0004c0008t0003 a0007c0010t0003 a0009c0014t0006 a0009c0014t0007 a0011c0018t0003 a0012c0019t0003 a0015c0047t0002 a0016c0033t0001 a0018c0036t0003 a0024c0029t0003 a0025c0028t0001 a0026c0030t0002	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0061 others(113): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0003g0060 a0001c0001t0003g0092 a0001c0001t0003g0095 a0001c0001t0003g0124 a0001c0003t0003g0142 a0001c0003t0003g0175 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0007g0016 a0001c0006t0001g0167 a0001c0006t0001g0220 a0001c0006t0002g0224 a0001c0006t0003g0021 a0001c0006t0006g0011 a0001c0007t0002g0077 a0001c0007t0002g0084 a0001c0007t0002g0222 a0001c0007t0002g0231 a0001c0007t0002g0232 a0001c0012t0002g0099 a0001c0012t0002g0172 a0001c0012t0006g0009 a0001c0045t0002g0074 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0051 a0002c0002t0001g0064 a0002c0002t0001g0072 a0002c0002t0001g0086 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0174 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0234 a0002c0002t0002g0002 a0002c0002t0002g0024 a0002c0002t0002g0027 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0071 a0002c0002t0002g0081 a0002c0002t0002g0097 a0002c0002t0002g0103 a0002c0002t0002g0134 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0002g0191 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0227 a0002c0002t0003g0066 a0002c0002t0003g0083 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0118 a0002c0002t0004g0001 a0002c0002t0004g0012 a0002c0002t0005g0108 a0002c0002t0005g0114 a0002c0002t0005g0137 a0002c0002t0006g0013 a0002c0002t0007g0018 a0002c0004t0001g0025 a0002c0004t0001g0065 a0002c0004t0001g0205 a0002c0004t0001g0219 a0002c0004t0002g0087 a0002c0004t0002g0209 a0002c0004t0003g0207 a0002c0004t0004g0017 a0002c0004t0006g0020 a0002c0022t0002g0049 a0002c0032t0001g0185 a0002c0035t0001g0204 a0003c0005t0001g0080 a0003c0005t0001g0217 a0003c0005t0002g0062 a0003c0005t0002g0068 a0003c0005t0002g0069 a0003c0005t0002g0070 a0003c0005t0002g0218 a0003c0046t0001g0059 a0004c0008t0001g0055 a0004c0008t0001g0135 a0004c0008t0002g0166 a0004c0008t0003g0184 a0007c0010t0003g0130 a0007c0010t0003g0131 a0007c0010t0003g0133 a0009c0014t0006g0007 a0009c0014t0007g0006 a0011c0018t0003g0122 a0012c0019t0003g0120 a0015c0047t0002g0168 a0016c0033t0001g0026 a0018c0036t0003g0094 a0024c0029t0003g0132 a0025c0028t0001g0100 a0026c0030t0002g0056	116	236	0.4915	-30	c.138 others(49): Show c.1385+6055_1385+6084delTTTTGTTTTGTTTTGTTTTGTTTTGT TTTG		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	13/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP69_chr7_90240174_90316063	90290743	GTCTTTTC others(23): Show GTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG02135.hp2 others(11): Show HG00438.hp1 HG01243.hp2 HG02135.hp2 HG02155.hp2 HG02735.hp2 HG03453.hp1 HG03486.hp2 NA18612.hp2 NA18948.hp2 NA18965.hp1 NA18994.hp1 NA19063.hp2 NA19066.hp2 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0001 a0002c0001t0001 a0001c0006t0001 a0002c0001t0001	a0001c0006t0001g0240 a0002c0001t0001g0006 a0002c0001t0001g0049 others(10): Show a0001c0006t0001g0240 a0002c0001t0001g0006 a0002c0001t0001g0049 a0002c0001t0001g0064 a0002c0001t0001g0071 a0002c0001t0001g0084 a0002c0001t0001g0085 a0002c0001t0001g0086 a0002c0001t0001g0089 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0114	14	338	0.0414	-30	c.177 others(49): Show c.1775+2443_1775+2472delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT		CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	15/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP70_chr10_73248762_73363864	73316463	GATATATA others(23): Show GATATATATATATATATAGATATAGATATAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	220	0.0046	-30	c.112 others(49): Show c.1123-3850_1123-3821delATATATCTATATCTATATATATATAT ATAT		CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	10/27						chr10	TogoVar
CFAP77_chr9_132405211_132578319	132485985	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(55): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02698.hp2 HG03017.hp1 HG03654.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18944.hp1 NA18946.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18989.hp1 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19084.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0003c0010 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0008t0002 a0002c0003t0001 a0003c0010t0001 a0003c0011t0001	a0001c0001t0001g0090 a0001c0001t0001g0103 a0001c0001t0001g0113 others(55): Show a0001c0001t0001g0090 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0144 a0001c0001t0001g0190 a0001c0001t0001g0220 a0001c0001t0001g0268 a0001c0001t0001g0303 a0001c0001t0002g0050 a0001c0001t0007g0058 a0001c0002t0001g0012 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0076 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0106 a0001c0002t0001g0134 a0001c0002t0001g0150 a0001c0002t0001g0183 a0001c0002t0001g0203 a0001c0002t0001g0208 a0001c0002t0001g0228 a0001c0002t0001g0237 a0001c0002t0001g0252 a0001c0002t0001g0258 a0001c0002t0001g0275 a0001c0002t0001g0283 a0001c0002t0001g0302 a0001c0002t0001g0305 a0001c0002t0002g0009 a0001c0002t0002g0063 a0001c0002t0002g0126 a0001c0002t0002g0276 a0001c0002t0002g0301 a0001c0002t0004g0110 a0001c0002t0009g0315 a0001c0008t0002g0163 a0002c0003t0001g0112 a0002c0003t0001g0209 a0002c0003t0001g0311 a0003c0010t0001g0274 a0003c0011t0001g0185 a0003c0011t0001g0226 a0003c0011t0001g0259	58	322	0.1801	-30	c.196 others(49): Show c.196-12683_196-12654delATATATATATATATATATATATATAT ATAT		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486012	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0168 a0001c0004t0002g0322 a0001c0001t0001g0168 a0001c0004t0002g0322	2	322	0.0062	-30	c.196 others(49): Show c.196-12679_196-12650delATATATATATATATATATATATATAT GTAT		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486036	ATATATGT others(23): Show ATATATGTATGTATATGTATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0171 a0001c0002t0003g0171	1	322	0.0031	-30	c.196 others(49): Show c.196-12653_196-12624delGTATGTATATGTATGTGTGTGTGTGT ATAT		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843533	CCTCCTCC others(23): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	380	0.0026	-30	c.153 others(45): Show c.153-981_153-952delCCTCCTCCTCCTCCTCCTCCTCCTTCTTCT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843554	CCTCCTTC others(23): Show CCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	380	0.0026	-30	c.153 others(45): Show c.153-960_153-931delCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843557	CCTTCTTC others(23): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	380	0.0026	-30	c.153 others(45): Show c.153-916_153-887delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP99_chr4_2413955_2468002	2442917	TCACTGGG others(23): Show TCACTGGGGTGCTGGGGGCCTTGGGGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19043.hp2 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0035 a0001c0004 a0001c0035	a0001c0004t0001 a0001c0035t0001 a0001c0004t0001 a0001c0035t0001	a0001c0004t0001g0178 a0001c0035t0001g0030 a0001c0004t0001g0178 a0001c0035t0001g0030	2	350	0.0057	-30	c.352 others(45): Show c.352-204_352-175delTGCTGGGGGCCTTGGGGGGAGCCACTGGGG		CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP99_chr4_2413955_2468002	2442983	TCACTGGG others(23): Show TCACTGGGGTGCTGGGGGCCTTGGGGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0099 a0001c0006t0001g0099	1	350	0.0029	-30	c.352 others(45): Show c.352-138_352-109delTGCTGGGGGCCTTGGGGGGAGCCACTGGGG		CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFHR5_chr1_196972556_197014678	196999704	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	356	0.0028	-30	c.114 others(49): Show c.1147+1410_1147+1439delTATATATATACACACACACACATATA TATA		CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHADL_chr22_41224513_41245931	41242135	AATATATA others(23): Show AATATATACATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00741.hp2 HG01358.hp1 others(9): Show HG00673.hp1 HG00741.hp2 HG01358.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp2 HG02300.hp1 HG03209.hp1 NA18906.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0002g0208 a0002c0002t0001g0159 a0002c0002t0002g0035 others(7): Show a0001c0001t0002g0208 a0002c0002t0001g0159 a0002c0002t0002g0035 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0003t0001g0162 a0002c0003t0002g0205	12	414	0.0290	-30	c.-12 others(41): Show c.-1284_-1255delATATATATATATATATATATATGTATATAT		CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding					1205		chr22	TogoVar
CHCHD3_chr7_132779870_133087090	133002281	ATCTGGTA others(23): Show ATCTGGTAGATATTCTTATTAACTTGGCTTC	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	310	0.0032	-30	c.251 others(49): Show c.251+22235_251+22264delGAAGCCAAGTTAATAAGAATATCTAC CAGA		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7						chr7	TogoVar
CHD2_chr15_92895324_93032996	92940954	AATATATA others(23): Show AATATATATAAATATAAATATAAATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	306	0.0033	-30	c.693 others(45): Show c.693-852_693-823delAATATAAATATAAATATATATATAAATATA		CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	7/38					INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD6_chr20_41397083_41623377	41556247	AGGGAGAG others(23): Show AGGGAGAGGGAGAGGGAGACCGTGGGGAGAC	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0001 a0016c0023t0001	a0016c0023t0001g0106 a0016c0023t0001g0106	1	324	0.0031	-30	c.-23 others(47): Show c.-23-4917_-23-4888delGTCTCCCCACGGTCTCCCTCTCCCTCTC CC		CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	1/36						chr20	TogoVar
CHD8_chr14_21380199_21461123	21442738	CGGGAGGA others(23): Show CGGGAGGAGAGGGGAGGAGAGGGGAGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	260	0.0039	-30	c.-21 others(51): Show c.-215-10910_-215-10881delCTCTCCTCCCCTCTCCTCCCCTCT CCTCCC		CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37						chr14	TogoVar
CHGB_chr20_5906510_5930353	5926066	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0002 a0020c0020t0002	a0020c0020t0002g0112 a0020c0020t0002g0112	1	440	0.0023	-30	c.10 others(41): Show c.1018_*1047delAAATATATATATATATATATATATATATAT		CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding					714		chr20	TogoVar
CHIA_chr1_111285851_111325563	111315899	AGGCTAAA others(23): Show AGGCTAAATATAAGAATAAGACACTATCCTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00438.hp1 others(221): Show HG00099.hp1 HG00140.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0005 a0007 a0008 a0011 a0013 a0014 a0015	a0002c0002 a0003c0003 a0004c0004 others(10): Show a0002c0002 a0003c0003 a0004c0004 a0004c0007 a0004c0022 a0005c0008 a0005c0015 a0007c0009 a0008c0011 a0011c0016 a0013c0021 a0014c0020 a0015c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(18): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0003c0003t0001 a0003c0003t0002 a0004c0004t0003 a0004c0004t0004 a0004c0007t0003 a0004c0007t0004 a0004c0022t0003 a0005c0008t0002 a0005c0008t0005 a0005c0015t0002 a0007c0009t0001 a0008c0011t0002 a0011c0016t0004 a0013c0021t0005 a0014c0020t0002 a0015c0018t0002	a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0010 others(149): Show a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0024 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0271 a0002c0002t0002g0005 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0054 a0002c0002t0002g0067 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0092 a0002c0002t0002g0097 a0002c0002t0002g0124 a0002c0002t0002g0130 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0150 a0002c0002t0002g0251 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0265 a0002c0002t0006g0001 a0002c0002t0008g0048 a0002c0002t0009g0001 a0003c0003t0001g0038 a0003c0003t0001g0180 a0003c0003t0001g0182 a0003c0003t0001g0207 a0003c0003t0001g0215 a0003c0003t0001g0225 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0078 a0003c0003t0002g0081 a0003c0003t0002g0086 a0003c0003t0002g0091 a0003c0003t0002g0094 a0003c0003t0002g0096 a0003c0003t0002g0098 a0003c0003t0002g0103 a0003c0003t0002g0104 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0109 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0125 a0003c0003t0002g0244 a0003c0003t0002g0255 a0003c0003t0002g0261 a0003c0003t0002g0263 a0004c0004t0003g0013 a0004c0004t0003g0032 a0004c0004t0003g0059 a0004c0004t0003g0087 a0004c0004t0003g0093 a0004c0004t0003g0095 a0004c0004t0003g0102 a0004c0004t0003g0108 a0004c0004t0003g0116 a0004c0004t0003g0117 a0004c0004t0003g0121 a0004c0004t0003g0127 a0004c0004t0003g0132 a0004c0004t0003g0270 a0004c0004t0004g0044 a0004c0004t0004g0166 a0004c0004t0004g0211 a0004c0007t0003g0015 a0004c0007t0003g0029 a0004c0007t0003g0082 a0004c0007t0003g0107 a0004c0007t0004g0154 a0004c0007t0004g0157 a0004c0007t0004g0179 a0004c0022t0003g0015 a0005c0008t0002g0100 a0005c0008t0005g0016 a0005c0008t0005g0129 a0005c0008t0005g0138 a0005c0008t0005g0139 a0005c0015t0002g0135 a0005c0015t0002g0246 a0007c0009t0001g0011 a0007c0009t0001g0202 a0007c0009t0001g0236 a0008c0011t0002g0110 a0008c0011t0002g0245 a0008c0011t0002g0260 a0008c0011t0002g0262 a0011c0016t0004g0159 a0011c0016t0004g0183 a0013c0021t0005g0140 a0014c0020t0002g0141 a0015c0018t0002g0268	224	426	0.5258	-30	c.480 others(45): Show c.480+469_480+498delAAATATAAGAATAAGACACTATCCTTGGCT		CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHML_chr1_241623851_241645369	241635368	TTCAGTGA others(23): Show TTCAGTGAAGGTATTAGACACCCCCAAAGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp1 HG02895.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0076 a0009c0010t0001g0076	1	452	0.0022	-30	c.369 others(37): Show c.369_398delTTCTTTGGGGGTGTCTAATACCTTCACTGA	p.Ser others(13): Show p.Ser124_Glu133del	CHML	ENSG00000203668.3	transcript	ENST00000366553.3	protein_coding	2/2	1193/7711	369/1971	123/656			chr1	TogoVar
CHN2_chr7_29189775_29519328	29273343	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0198 a0001c0006t0002g0198	1	232	0.0043	-30	c.49+ others(47): Show c.49+78370_49+78399delTATATATATATATATATATATATATATA TA		CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRDL1_chrX_110668856_110800817	110669052	TTATATAT others(23): Show TTATATATATATATATTTATATATATATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0031	1	172	0.0058	-30	c.71 others(41): Show c.7149_*7178delTAAATATATATATAAATATATATATATATA		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding					4803		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689669	ATATATCT others(23): Show ATATATCTATATATCTATATATCTATATATC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0042 a0001c0002t0011g0042	1	172	0.0058	-30	c.779 others(45): Show c.779-896_779-867delGATATATAGATATATAGATATATAGATATA		CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11						chrX	TogoVar
CHRDL2_chr11_74691429_74736426	74709222	GCTCTCAC others(23): Show GCTCTCACCACCCACCACCCAGCATTTCTGT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0219 a0001c0007t0001g0219	1	392	0.0026	-30	c.433 others(45): Show c.433-857_433-828delACAGAAATGCTGGGTGGTGGGTGGTGAGAG		CHRDL2	ENSG00000054938.17	transcript	ENST00000376332.8	protein_coding	4/10						chr11	TogoVar
CHRM2_chr7_136863652_137025213	136938915	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18939.hp2 NA18975.hp1 others(3): Show HG03195.hp2 NA18939.hp2 NA18975.hp1 NA18982.hp2 NA18991.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0005	a0001c0001t0002g0161 a0001c0001t0003g0273 a0001c0001t0005g0135 others(3): Show a0001c0001t0002g0161 a0001c0001t0003g0273 a0001c0001t0005g0135 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0002t0005g0030	6	320	0.0188	-30	c.-12 others(51): Show c.-124-53253_-124-53224delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA		CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239874285	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp2 HG03041.hp2 others(3): Show HG02723.hp1 HG02818.hp2 HG03041.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021	a0001c0001t0009g0038 a0001c0001t0009g0045 a0001c0001t0012g0028 others(3): Show a0001c0001t0009g0038 a0001c0001t0009g0045 a0001c0001t0012g0028 a0001c0001t0012g0049 a0001c0001t0021g0019 a0001c0001t0021g0093	6	116	0.0517	-30	c.-19 others(49): Show c.-19-33135_-19-33106delTATATATATATATATATATATATATA TATA		CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA7_chr15_32025515_32178018	32168733	CTGCCTGG others(23): Show CTGCCTGGAAAGCCCTTCGGAGAGCTCCCCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0048 a0001c0011t0048	a0001c0011t0048g0119 a0001c0011t0048g0119	1	307	0.0033	-30	c.27 others(39): Show c.278_*307delCCTGGAAAGCCCTTCGGAGAGCTCCCCATG		CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	10/10				278	INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNB4_chr15_78619111_78646210	78632211	TTCTCTTT others(23): Show TTCTCTTTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0178 a0002c0002t0002g0178	1	416	0.0024	-30	c.205 others(45): Show c.205-909_205-880delGAGAGAGAGAGAGAGAGAGAGAGAAAGAGA		CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5						chr15	TogoVar
CHST11_chr12_104451948_104767014	104695463	GTGTGTGT others(23): Show GTGTGTGTGTGTATGTGTCCTTGTGGTTTGC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0121 a0001c0001t0027g0121	1	240	0.0042	-30	c.205 others(49): Show c.205-61484_205-61455delGTGTGTGTGTATGTGTCCTTGTGGTT TGCT		CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST12_chr7_2398611_2453484	2401230	CCCAGGCT others(23): Show CCCAGGCTACAGTTCACTGGCGCGGTCTCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0228 a0001c0001t0228	a0001c0001t0228g0106 a0001c0001t0228g0106	1	344	0.0029	-30	c.-25 others(41): Show c.-2520_-2491delCCAGGCTACAGTTCACTGGCGCGGTCTCGG		CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding					2380		chr7	TogoVar
CHST12_chr7_2398611_2453484	2452497	CCCCTGCC others(23): Show CCCCTGCCCGGCCCTGCCCTGCCCTGCCCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0216 a0001c0001t0077g0216	1	344	0.0029	-30	c.18 others(43): Show c.18614_*18643delCCCTGCCCGGCCCTGCCCTGCCCTGCCCTG		CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding					4014		chr7	TogoVar
CHST12_chr7_2398611_2453484	2452532	GCCCTGCC others(23): Show GCCCTGCCCTGCCCTGCCCTGCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0261 a0001c0001t0108g0261	1	344	0.0029	-30	c.18 others(43): Show c.18649_*18678delCCCTGCCCTGCCCTGCCCTGCCCTCCCCTC		CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding					4049		chr7	TogoVar
CHST12_chr7_2398611_2453484	2452537	GCCCTGCC others(23): Show GCCCTGCCCTGCCCTGCCCTCCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 NA18951.hp1 HG03098.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0258 a0001c0001t0135 a0001c0001t0258	a0001c0001t0135g0032 a0001c0001t0258g0053 a0001c0001t0135g0032 a0001c0001t0258g0053	2	344	0.0058	-30	c.18 others(43): Show c.18654_*18683delCCCTGCCCTGCCCTGCCCTCCCCTCCCCTC		CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding					4054		chr7	TogoVar
CHST12_chr7_2398611_2453484	2452542	GCCCTGCC others(23): Show GCCCTGCCCTGCCCTCCCCTCCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 NA18954.hp2 others(5): Show HG00597.hp2 HG00609.hp1 NA18954.hp2 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0074 a0001c0001t0264 a0001c0001t0284 others(4): Show a0001c0001t0074 a0001c0001t0264 a0001c0001t0284 a0002c0002t0001 a0002c0002t0118 a0003c0003t0154 a0004c0004t0024	a0001c0001t0074g0034 a0001c0001t0264g0059 a0001c0001t0284g0009 others(5): Show a0001c0001t0074g0034 a0001c0001t0264g0059 a0001c0001t0284g0009 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0118g0280 a0003c0003t0154g0201 a0004c0004t0024g0060	8	344	0.0233	-30	c.18 others(43): Show c.18659_*18688delCCCTGCCCTGCCCTCCCCTCCCCTCCCCTC		CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding					4059		chr7	TogoVar
CHST12_chr7_2398611_2453484	2452547	GCCCTGCC others(23): Show GCCCTGCCCTCCCCTCCCCTCCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03130.hp2 HG03195.hp1 others(3): Show HG02965.hp2 HG03130.hp2 HG03195.hp1 NA18971.hp1 NA19030.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0027 a0001c0001t0105 a0001c0001t0246 others(3): Show a0001c0001t0027 a0001c0001t0105 a0001c0001t0246 a0001c0001t0273 a0001c0001t0300 a0004c0004t0238	a0001c0001t0027g0011 a0001c0001t0105g0018 a0001c0001t0246g0084 others(3): Show a0001c0001t0027g0011 a0001c0001t0105g0018 a0001c0001t0246g0084 a0001c0001t0273g0011 a0001c0001t0300g0259 a0004c0004t0238g0065	6	344	0.0174	-30	c.18 others(43): Show c.18664_*18693delCCCTGCCCTCCCCTCCCCTCCCCTCCCCTC		CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding					4064		chr7	TogoVar
CHST15_chr10_124002668_124098598	124056746	TGGACACG others(23): Show TGGACACGCTGCGGCCCAGGCCCGTACGACC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18955.hp2 NA19007.hp1 others(1): Show NA18948.hp2 NA18955.hp2 NA19007.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0133 a0001c0001t0003g0135 a0001c0001t0004g0134 others(1): Show a0001c0001t0002g0133 a0001c0001t0003g0135 a0001c0001t0004g0134 a0001c0001t0004g0367	4	392	0.0102	-30	c.-51 others(51): Show c.-512-10052_-512-10023delGGTCGTACGGGCCTGGGCCGCAGC GTGTCC		CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	1/7						chr10	TogoVar
CHST8_chr19_33616953_33778506	33618397	GTCTTCTT others(23): Show GTCTTCTTCTTCTTCTTCTTCTTCCTCGTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01081.hp1 others(15): Show HG00099.hp2 HG00738.hp2 HG01081.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp2 HG02083.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03704.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18962.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(15): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0224 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0061	18	254	0.0709	-30	c.-40 others(41): Show c.-4062_-4033delTCTTCTTCTTCTTCTTCTTCTTCCTCGTCT		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding					3555		chr19	TogoVar
CHST8_chr19_33616953_33778506	33757430	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	254	0.0039	-30	c.131 others(49): Show c.131-13981_131-13952delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST9_chr18_26901481_27190308	26913045	GTAGTCCT others(23): Show GTAGTCCTAGCCTAATCCCAAGTTCTATTAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0099 a0001c0001t0063g0099	1	262	0.0038	-30	c.31 others(41): Show c.3184_*3213delTTAATAGAACTTGGGATTAGGCTAGGACTA		CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	6/6				3184		chr18	TogoVar
CHSY3_chr5_129899465_130191634	130020439	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA20129.hp1 HG02809.hp2 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0001 a0003c0004t0003 a0002c0003t0001 a0003c0004t0003	a0002c0003t0001g0230 a0003c0004t0003g0227 a0002c0003t0001g0230 a0003c0004t0003g0227	2	276	0.0073	-30	c.108 others(53): Show c.1086+112081_1086+112110delATATATATATATATATATATAT TTTTTTTT		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CHSY3_chr5_129899465_130191634	130143754	ATATGTGT others(23): Show ATATGTGTGTGTGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG04184.hp2 NA19005.hp1 others(1): Show HG03491.hp2 HG04184.hp2 NA19005.hp1 NA19009.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0004 a0003c0006t0003 a0003c0004t0004 a0003c0006t0003	a0003c0004t0004g0235 a0003c0004t0004g0237 a0003c0006t0003g0059 others(1): Show a0003c0004t0004g0235 a0003c0004t0004g0237 a0003c0006t0003g0059 a0003c0006t0003g0078	4	276	0.0145	-30	c.108 others(51): Show c.1087-40471_1087-40442delGTGTGTGTGTGTATATATATATAT GTGTAT		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CIAPIN1_chr16_57423187_57452385	57446873	ATTACAAT others(23): Show ATTACAATCGTGAGCTCAGGTACCCCCCGAC	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	390	0.0026	-30	c.-56 others(45): Show c.-56+439_-56+468delGTCGGGGGGTACCTGAGCTCACGATTGTAA		CIAPIN1	ENSG00000005194.15	transcript	ENST00000394391.9	protein_coding	1/8						chr16	TogoVar

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