Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG01069.hp2 HG01070.hp1 others(20): Show HG00609.hp1 HG01069.hp2 HG01070.hp1 HG01168.hp2 HG01358.hp2 HG01361.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG02040.hp1 HG02074.hp1 HG02572.hp1 HG02698.hp2 HG02735.hp1 HG03491.hp2 HG03710.hp2 HG04199.hp1 HG04199.hp2 NA18957.hp2 NA18968.hp1 NA18984.hp1 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0019 a0026	a0001c0001 a0001c0007 a0002c0002 others(8): Show a0001c0001 a0001c0007 a0002c0002 a0002c0005 a0003c0013 a0004c0008 a0005c0004 a0006c0015 a0008c0018 a0019c0043 a0026c0047	a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 others(9): Show a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 a0002c0002t0001 a0002c0005t0001 a0003c0013t0002 a0004c0008t0001 a0005c0004t0001 a0006c0015t0001 a0008c0018t0001 a0019c0043t0001 a0026c0047t0001	a0001c0001t0002g0292 a0001c0007t0002g0293 a0001c0007t0002g0316 others(20): Show a0001c0001t0002g0292 a0001c0007t0002g0293 a0001c0007t0002g0316 a0001c0007t0002g0330 a0001c0007t0002g0331 a0001c0007t0002g0337 a0001c0007t0004g0338 a0002c0002t0001g0317 a0002c0005t0001g0318 a0002c0005t0001g0334 a0003c0013t0002g0319 a0004c0008t0001g0306 a0004c0008t0001g0307 a0004c0008t0001g0315 a0004c0008t0001g0333 a0004c0008t0001g0349 a0004c0008t0001g0353 a0005c0004t0001g0335 a0005c0004t0001g0348 a0006c0015t0001g0336 a0008c0018t0001g0291 a0019c0043t0001g0305 a0026c0047t0001g0332	23	376	0.0612	13	c.-68 others(27): Show c.-689-20_-689-8dupTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01358.hp1 HG01361.hp2 others(5): Show HG01081.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG02080.hp1 HG02257.hp2 HG02273.hp1 HG02717.hp1	a0001 a0004 a0018 others(1): Show a0001 a0004 a0018 a0029	a0001c0001 a0001c0007 a0004c0008 others(2): Show a0001c0001 a0001c0007 a0004c0008 a0018c0042 a0029c0041	a0001c0001t0002 a0001c0001t0023 a0001c0007t0002 others(3): Show a0001c0001t0002 a0001c0001t0023 a0001c0007t0002 a0004c0008t0001 a0018c0042t0002 a0029c0041t0001	a0001c0001t0002g0339 a0001c0001t0023g0043 a0001c0007t0002g0340 others(5): Show a0001c0001t0002g0339 a0001c0001t0023g0043 a0001c0007t0002g0340 a0004c0008t0001g0297 a0004c0008t0001g0308 a0004c0008t0001g0341 a0018c0042t0002g0309 a0029c0041t0001g0350	8	376	0.0213	14	c.-68 others(28): Show c.-689-21_-689-8dupTTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG01346.hp2 HG02630.hp1 others(1): Show HG00323.hp2 HG01346.hp2 HG02630.hp1 HG02970.hp2	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0006 a0005c0048 a0007c0022 a0003c0006 a0005c0048 a0007c0022	a0003c0006t0008 a0005c0048t0001 a0007c0022t0021 a0003c0006t0008 a0005c0048t0001 a0007c0022t0021	a0003c0006t0008g0296 a0003c0006t0008g0298 a0005c0048t0001g0342 others(1): Show a0003c0006t0008g0296 a0003c0006t0008g0298 a0005c0048t0001g0342 a0007c0022t0021g0310	4	376	0.0106	15	c.-68 others(29): Show c.-689-22_-689-8dupTTTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0320 a0003c0006t0008g0320	1	376	0.0027	16	c.-68 others(30): Show c.-689-23_-689-8dupTTTTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0299 a0003c0006t0008g0299	1	376	0.0027	17	c.-68 others(31): Show c.-689-24_-689-8dupTTTTTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp1 HG03490.hp2 HG01261.hp1 HG03490.hp2	a0004 a0017 a0004 a0017	a0004c0008 a0017c0068 a0004c0008 a0017c0068	a0004c0008t0001 a0017c0068t0008 a0004c0008t0001 a0017c0068t0008	a0004c0008t0001g0294 a0017c0068t0008g0300 a0004c0008t0001g0294 a0017c0068t0008g0300	2	376	0.0053	18	c.-68 others(32): Show c.-689-25_-689-8dupTTTTTTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0013 a0003c0010t0013	a0003c0010t0013g0302 a0003c0010t0013g0302	1	376	0.0027	22	c.-68 others(36): Show c.-689-29_-689-8dupTTTTTTTTTTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp2 HG03579.hp2	a0021 a0021	a0021c0065 a0021c0065	a0021c0065t0022 a0021c0065t0022	a0021c0065t0022g0311 a0021c0065t0022g0311	1	376	0.0027	23	c.-68 others(37): Show c.-689-30_-689-8dupTTTTTTTTTTTTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(99): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00673.hp1 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02622.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0022	a0001c0001 a0001c0007 a0001c0012 others(28): Show a0001c0001 a0001c0007 a0001c0012 a0001c0021 a0001c0023 a0002c0002 a0002c0005 a0002c0017 a0002c0046 a0003c0006 a0003c0010 a0003c0032 a0003c0044 a0003c0066 a0004c0003 a0004c0008 a0004c0031 a0005c0004 a0005c0014 a0006c0009 a0006c0015 a0007c0011 a0008c0018 a0009c0019 a0010c0026 a0011c0020 a0012c0034 a0012c0061 a0014c0033 a0015c0035 a0022c0060	a0001c0001t0002 a0001c0001t0005 a0001c0007t0002 others(36): Show a0001c0001t0002 a0001c0001t0005 a0001c0007t0002 a0001c0012t0001 a0001c0021t0007 a0001c0023t0012 a0002c0002t0001 a0002c0005t0001 a0002c0005t0010 a0002c0017t0001 a0002c0046t0001 a0003c0006t0002 a0003c0006t0004 a0003c0010t0001 a0003c0032t0001 a0003c0044t0006 a0003c0066t0001 a0004c0003t0001 a0004c0003t0010 a0004c0003t0018 a0004c0008t0002 a0004c0031t0007 a0005c0004t0001 a0005c0014t0002 a0006c0009t0001 a0006c0009t0006 a0006c0009t0014 a0006c0015t0001 a0006c0015t0006 a0007c0011t0003 a0008c0018t0001 a0009c0019t0001 a0010c0026t0004 a0011c0020t0006 a0012c0034t0001 a0012c0061t0001 a0014c0033t0001 a0015c0035t0001 a0022c0060t0002	a0001c0001t0002g0004 a0001c0001t0002g0102 a0001c0001t0002g0105 others(97): Show a0001c0001t0002g0004 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0152 a0001c0001t0002g0209 a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0005g0061 a0001c0007t0002g0074 a0001c0012t0001g0123 a0001c0012t0001g0279 a0001c0021t0007g0049 a0001c0023t0012g0059 a0002c0002t0001g0003 a0002c0002t0001g0099 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0117 a0002c0002t0001g0126 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0150 a0002c0002t0001g0154 a0002c0002t0001g0258 a0002c0005t0001g0066 a0002c0005t0001g0073 a0002c0005t0001g0111 a0002c0005t0001g0257 a0002c0005t0010g0064 a0002c0005t0010g0065 a0002c0017t0001g0101 a0002c0017t0001g0128 a0002c0046t0001g0136 a0003c0006t0002g0120 a0003c0006t0002g0125 a0003c0006t0002g0151 a0003c0006t0004g0208 a0003c0010t0001g0067 a0003c0032t0001g0115 a0003c0032t0001g0124 a0003c0044t0006g0133 a0003c0066t0001g0253 a0004c0003t0001g0118 a0004c0003t0001g0129 a0004c0003t0001g0132 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0263 a0004c0003t0001g0272 a0004c0003t0010g0269 a0004c0003t0018g0127 a0004c0008t0002g0112 a0004c0031t0007g0045 a0005c0004t0001g0259 a0005c0004t0001g0265 a0005c0004t0001g0266 a0005c0004t0001g0267 a0005c0004t0001g0268 a0005c0004t0001g0273 a0005c0004t0001g0276 a0005c0004t0001g0277 a0005c0004t0001g0280 a0005c0014t0002g0094 a0006c0009t0001g0100 a0006c0009t0001g0103 a0006c0009t0001g0109 a0006c0009t0001g0140 a0006c0009t0001g0251 a0006c0009t0001g0274 a0006c0009t0001g0275 a0006c0009t0006g0002 a0006c0009t0014g0003 a0006c0015t0001g0071 a0006c0015t0006g0072 a0007c0011t0003g0365 a0007c0011t0003g0366 a0008c0018t0001g0116 a0008c0018t0001g0119 a0008c0018t0001g0145 a0009c0019t0001g0068 a0009c0019t0001g0069 a0009c0019t0001g0070 a0010c0026t0004g0044 a0010c0026t0004g0121 a0011c0020t0006g0146 a0011c0020t0006g0148 a0011c0020t0006g0149 a0012c0034t0001g0260 a0012c0034t0001g0270 a0012c0061t0001g0147 a0014c0033t0001g0262 a0015c0035t0001g0107 a0015c0035t0001g0122 a0022c0060t0002g0278	102	376	0.2713	-1	c.-68 others(7): Show c.-689-8delT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(39): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01109.hp1 HG01169.hp1 HG01515.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18960.hp2 NA18988.hp2 NA19003.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0020 a0023 a0025 a0027 a0028	a0001c0001 a0001c0007 a0001c0012 others(18): Show a0001c0001 a0001c0007 a0001c0012 a0001c0025 a0001c0027 a0001c0063 a0001c0067 a0002c0002 a0002c0017 a0002c0037 a0003c0006 a0004c0003 a0005c0004 a0007c0011 a0007c0022 a0010c0026 a0020c0057 a0023c0049 a0025c0054 a0027c0058 a0028c0059	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(22): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0007t0002 a0001c0012t0001 a0001c0025t0002 a0001c0027t0002 a0001c0063t0002 a0001c0067t0006 a0002c0002t0001 a0002c0002t0002 a0002c0017t0001 a0002c0037t0001 a0003c0006t0002 a0003c0006t0026 a0004c0003t0001 a0005c0004t0001 a0007c0011t0003 a0007c0022t0003 a0010c0026t0004 a0020c0057t0017 a0023c0049t0004 a0025c0054t0003 a0027c0058t0001 a0028c0059t0025	a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0096 others(38): Show a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0096 a0001c0001t0002g0363 a0001c0001t0004g0026 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0007t0002g0013 a0001c0007t0002g0020 a0001c0012t0001g0029 a0001c0012t0001g0098 a0001c0012t0001g0256 a0001c0025t0002g0031 a0001c0027t0002g0091 a0001c0063t0002g0014 a0001c0067t0006g0027 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0002g0024 a0002c0002t0002g0097 a0002c0017t0001g0016 a0002c0037t0001g0032 a0003c0006t0002g0033 a0003c0006t0002g0035 a0003c0006t0026g0369 a0004c0003t0001g0028 a0004c0003t0001g0030 a0005c0004t0001g0012 a0005c0004t0001g0255 a0007c0011t0003g0006 a0007c0011t0003g0285 a0007c0011t0003g0286 a0007c0011t0003g0287 a0007c0011t0003g0289 a0007c0022t0003g0021 a0010c0026t0004g0143 a0020c0057t0017g0015 a0023c0049t0004g0288 a0025c0054t0003g0364 a0027c0058t0001g0095 a0028c0059t0025g0137	42	376	0.1117	-2	c.-68 others(15): Show c.-689-9_-689-8delTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	CTTT CTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG02615.hp1 HG02897.hp2 others(5): Show HG01168.hp1 HG02615.hp1 HG02897.hp2 HG03041.hp1 HG03710.hp1 NA18940.hp2 NA19086.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0025 a0001c0027 others(4): Show a0001c0001 a0001c0025 a0001c0027 a0002c0002 a0003c0006 a0003c0013 a0007c0011	a0001c0001t0009 a0001c0025t0004 a0001c0027t0002 others(4): Show a0001c0001t0009 a0001c0025t0004 a0001c0027t0002 a0002c0002t0001 a0003c0006t0002 a0003c0013t0002 a0007c0011t0003	a0001c0001t0009g0090 a0001c0025t0004g0010 a0001c0025t0004g0011 others(5): Show a0001c0001t0009g0090 a0001c0025t0004g0010 a0001c0025t0004g0011 a0001c0027t0002g0089 a0002c0002t0001g0034 a0003c0006t0002g0018 a0003c0013t0002g0017 a0007c0011t0003g0284	8	376	0.0213	-3	c.-68 others(17): Show c.-689-10_-689-8delTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80179301	C C	T T	splice_region_variant splice_region_variant	LOW	HG00323.hp2 HG01261.hp1 HG01346.hp2 others(6): Show HG00323.hp2 HG01261.hp1 HG01346.hp2 HG02622.hp2 HG02647.hp1 HG02735.hp2 HG02970.hp2 HG03471.hp1 HG03540.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0017	a0001c0001 a0001c0023 a0003c0006 others(2): Show a0001c0001 a0001c0023 a0003c0006 a0007c0022 a0017c0068	a0001c0001t0012 a0001c0023t0012 a0003c0006t0008 others(2): Show a0001c0001t0012 a0001c0023t0012 a0003c0006t0008 a0007c0022t0021 a0017c0068t0008	a0001c0001t0012g0047 a0001c0023t0012g0057 a0001c0023t0012g0059 others(6): Show a0001c0001t0012g0047 a0001c0023t0012g0057 a0001c0023t0012g0059 a0003c0006t0008g0296 a0003c0006t0008g0298 a0003c0006t0008g0299 a0003c0006t0008g0320 a0007c0022t0021g0310 a0017c0068t0008g0300	9	376	0.0239	0	c.-21 others(3): Show c.-21C>T		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	4/24					chr17	TogoVar
CARD14_chr17_80165030_80214331	80188371	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02165.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19084.hp1 NA19084.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0012 a0014 a0015 a0017 a0021 a0022 a0027	a0001c0001 a0001c0012 a0001c0027 others(22): Show a0001c0001 a0001c0012 a0001c0027 a0001c0056 a0001c0063 a0002c0002 a0002c0017 a0002c0037 a0003c0006 a0003c0016 a0003c0032 a0003c0066 a0004c0003 a0005c0004 a0005c0014 a0006c0009 a0008c0018 a0012c0034 a0012c0061 a0014c0033 a0015c0035 a0017c0068 a0021c0065 a0022c0060 a0027c0058	a0001c0001t0002 a0001c0001t0009 a0001c0012t0001 others(30): Show a0001c0001t0002 a0001c0001t0009 a0001c0012t0001 a0001c0027t0002 a0001c0056t0002 a0001c0063t0002 a0002c0002t0001 a0002c0002t0002 a0002c0017t0001 a0002c0037t0001 a0003c0006t0002 a0003c0006t0008 a0003c0016t0002 a0003c0032t0001 a0003c0066t0001 a0004c0003t0001 a0004c0003t0010 a0004c0003t0018 a0005c0004t0001 a0005c0004t0002 a0005c0014t0002 a0006c0009t0001 a0006c0009t0006 a0006c0009t0014 a0008c0018t0001 a0012c0034t0001 a0012c0061t0001 a0014c0033t0001 a0015c0035t0001 a0017c0068t0008 a0021c0065t0022 a0022c0060t0002 a0027c0058t0001	a0001c0001t0002g0004 a0001c0001t0002g0096 a0001c0001t0002g0114 others(113): Show a0001c0001t0002g0004 a0001c0001t0002g0096 a0001c0001t0002g0114 a0001c0001t0002g0152 a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0281 a0001c0001t0009g0090 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0012t0001g0098 a0001c0012t0001g0123 a0001c0012t0001g0256 a0001c0012t0001g0279 a0001c0027t0002g0089 a0001c0027t0002g0091 a0001c0056t0002g0144 a0001c0063t0002g0014 a0002c0002t0001g0003 a0002c0002t0001g0023 a0002c0002t0001g0038 a0002c0002t0001g0079 a0002c0002t0001g0099 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0117 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0150 a0002c0002t0001g0154 a0002c0002t0001g0175 a0002c0002t0001g0220 a0002c0002t0001g0246 a0002c0002t0001g0258 a0002c0002t0002g0097 a0002c0002t0002g0252 a0002c0017t0001g0101 a0002c0037t0001g0032 a0003c0006t0002g0120 a0003c0006t0002g0125 a0003c0006t0002g0151 a0003c0006t0002g0189 a0003c0006t0002g0224 a0003c0006t0008g0296 a0003c0006t0008g0298 a0003c0006t0008g0299 a0003c0006t0008g0320 a0003c0016t0002g0174 a0003c0016t0002g0197 a0003c0016t0002g0199 a0003c0016t0002g0200 a0003c0016t0002g0204 a0003c0016t0002g0207 a0003c0032t0001g0115 a0003c0032t0001g0124 a0003c0066t0001g0253 a0004c0003t0001g0030 a0004c0003t0001g0118 a0004c0003t0001g0129 a0004c0003t0001g0132 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0263 a0004c0003t0001g0272 a0004c0003t0001g0283 a0004c0003t0010g0269 a0004c0003t0018g0127 a0005c0004t0001g0008 a0005c0004t0001g0012 a0005c0004t0001g0214 a0005c0004t0001g0255 a0005c0004t0001g0259 a0005c0004t0001g0265 a0005c0004t0001g0266 a0005c0004t0001g0267 a0005c0004t0001g0268 a0005c0004t0001g0273 a0005c0004t0001g0276 a0005c0004t0001g0277 a0005c0004t0001g0280 a0005c0004t0001g0312 a0005c0004t0001g0327 a0005c0004t0001g0335 a0005c0004t0001g0343 a0005c0004t0001g0348 a0005c0004t0002g0080 a0005c0014t0002g0345 a0006c0009t0001g0100 a0006c0009t0001g0103 a0006c0009t0001g0109 a0006c0009t0001g0135 a0006c0009t0001g0140 a0006c0009t0001g0251 a0006c0009t0001g0274 a0006c0009t0001g0275 a0006c0009t0001g0347 a0006c0009t0006g0002 a0006c0009t0014g0003 a0008c0018t0001g0116 a0008c0018t0001g0119 a0008c0018t0001g0145 a0012c0034t0001g0260 a0012c0034t0001g0270 a0012c0061t0001g0147 a0014c0033t0001g0262 a0014c0033t0001g0282 a0015c0035t0001g0107 a0017c0068t0008g0300 a0021c0065t0022g0311 a0022c0060t0002g0278 a0027c0058t0001g0095	118	376	0.3138	0	c.676 others(5): Show c.676-6G>A		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	7/23					chr17	TogoVar
CARD14_chr17_80165030_80214331	80205031	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(141): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01123.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02602.hp1 HG02683.hp2 HG02886.hp1 HG02886.hp2 HG03139.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19077.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0002 a0003 a0004 others(12): Show a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0012 a0014 a0015 a0019 a0021 a0029 a0031 a0032	a0002c0002 a0002c0005 a0002c0017 others(26): Show a0002c0002 a0002c0005 a0002c0017 a0002c0037 a0002c0045 a0002c0046 a0002c0055 a0003c0006 a0003c0010 a0003c0066 a0004c0003 a0004c0008 a0004c0031 a0004c0052 a0004c0053 a0006c0009 a0006c0015 a0007c0022 a0008c0018 a0009c0019 a0012c0034 a0012c0061 a0014c0033 a0015c0035 a0019c0043 a0021c0065 a0029c0041 a0031c0040 a0032c0038	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(36): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0005t0007 a0002c0005t0010 a0002c0017t0001 a0002c0037t0001 a0002c0045t0007 a0002c0046t0001 a0002c0055t0001 a0003c0006t0001 a0003c0010t0001 a0003c0066t0001 a0004c0003t0001 a0004c0003t0002 a0004c0003t0010 a0004c0003t0018 a0004c0008t0001 a0004c0008t0002 a0004c0031t0007 a0004c0052t0001 a0004c0053t0001 a0006c0009t0001 a0006c0009t0006 a0006c0009t0014 a0006c0015t0001 a0006c0015t0006 a0007c0022t0003 a0008c0018t0001 a0009c0019t0001 a0012c0034t0001 a0012c0061t0001 a0014c0033t0001 a0015c0035t0001 a0019c0043t0001 a0021c0065t0022 a0029c0041t0001 a0031c0040t0001 a0032c0038t0001	a0002c0002t0001g0003 a0002c0002t0001g0022 a0002c0002t0001g0023 others(139): Show a0002c0002t0001g0003 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0079 a0002c0002t0001g0099 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0117 a0002c0002t0001g0126 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0150 a0002c0002t0001g0154 a0002c0002t0001g0175 a0002c0002t0001g0186 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0220 a0002c0002t0001g0246 a0002c0002t0001g0258 a0002c0002t0001g0317 a0002c0002t0001g0322 a0002c0002t0002g0024 a0002c0002t0002g0097 a0002c0002t0002g0252 a0002c0005t0001g0041 a0002c0005t0001g0063 a0002c0005t0001g0066 a0002c0005t0001g0073 a0002c0005t0001g0078 a0002c0005t0001g0083 a0002c0005t0001g0084 a0002c0005t0001g0088 a0002c0005t0001g0111 a0002c0005t0001g0141 a0002c0005t0001g0142 a0002c0005t0001g0195 a0002c0005t0001g0222 a0002c0005t0001g0257 a0002c0005t0001g0318 a0002c0005t0001g0334 a0002c0005t0007g0046 a0002c0005t0010g0064 a0002c0005t0010g0065 a0002c0017t0001g0016 a0002c0017t0001g0101 a0002c0017t0001g0128 a0002c0017t0001g0247 a0002c0017t0001g0249 a0002c0037t0001g0032 a0002c0045t0007g0056 a0002c0046t0001g0136 a0002c0055t0001g0009 a0003c0006t0001g0295 a0003c0010t0001g0067 a0003c0066t0001g0253 a0004c0003t0001g0028 a0004c0003t0001g0030 a0004c0003t0001g0118 a0004c0003t0001g0129 a0004c0003t0001g0132 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0158 a0004c0003t0001g0172 a0004c0003t0001g0196 a0004c0003t0001g0215 a0004c0003t0001g0218 a0004c0003t0001g0219 a0004c0003t0001g0221 a0004c0003t0001g0245 a0004c0003t0001g0263 a0004c0003t0001g0272 a0004c0003t0001g0283 a0004c0003t0001g0354 a0004c0003t0002g0243 a0004c0003t0010g0269 a0004c0003t0018g0127 a0004c0008t0001g0153 a0004c0008t0001g0198 a0004c0008t0001g0226 a0004c0008t0001g0294 a0004c0008t0001g0297 a0004c0008t0001g0306 a0004c0008t0001g0307 a0004c0008t0001g0308 a0004c0008t0001g0315 a0004c0008t0001g0328 a0004c0008t0001g0333 a0004c0008t0001g0341 a0004c0008t0001g0349 a0004c0008t0001g0353 a0004c0008t0002g0112 a0004c0031t0007g0045 a0004c0031t0007g0048 a0004c0052t0001g0352 a0004c0053t0001g0168 a0006c0009t0001g0100 a0006c0009t0001g0103 a0006c0009t0001g0109 a0006c0009t0001g0135 a0006c0009t0001g0140 a0006c0009t0001g0251 a0006c0009t0001g0274 a0006c0009t0001g0275 a0006c0009t0001g0347 a0006c0009t0006g0002 a0006c0009t0014g0003 a0006c0015t0001g0001 a0006c0015t0001g0071 a0006c0015t0001g0077 a0006c0015t0001g0081 a0006c0015t0001g0336 a0006c0015t0006g0072 a0007c0022t0003g0021 a0008c0018t0001g0116 a0008c0018t0001g0119 a0008c0018t0001g0145 a0008c0018t0001g0290 a0008c0018t0001g0291 a0009c0019t0001g0068 a0009c0019t0001g0069 a0009c0019t0001g0070 a0012c0034t0001g0260 a0012c0034t0001g0270 a0012c0061t0001g0147 a0014c0033t0001g0262 a0014c0033t0001g0282 a0015c0035t0001g0107 a0015c0035t0001g0122 a0019c0043t0001g0305 a0021c0065t0022g0311 a0029c0041t0001g0350 a0031c0040t0001g0193 a0032c0038t0001g0042	144	376	0.3830	0	c.239 others(6): Show c.2399-4A>G		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	20/23					chr17	TogoVar
CARD16_chr11_105036563_105050335	105045291	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0002 a0009c0002	a0009c0002t0001 a0009c0002t0001	a0009c0002t0001g0013 a0009c0002t0001g0013	1	452	0.0022	0	c.7G> others(1): Show c.7G>A	p.Asp others(4): Show p.Asp3Asn	CARD16	ENSG00000204397.10	transcript	ENST00000673097.2	protein_coding	1/4	45/532	7/294	3/97		chr11	TogoVar
CARD18_chr11_105132714_105144769	105139721	A A	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18965.hp1 NA19072.hp1 NA18965.hp1 NA19072.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0013 a0001c0004t0001g0013	2	432	0.0046	0	c.6T> others(1): Show c.6T>G	p.Ala others(4): Show p.Ala2Ala	CARD18	ENSG00000255501.3	transcript	ENST00000530950.2	protein_coding	1/3	49/702	6/273	2/90		chr11	TogoVar
CARD18_chr11_105132714_105144769	105139721	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02083.hp2 HG03017.hp1 HG03239.hp1 others(4): Show HG02083.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 NA19030.hp2 NA19043.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0001 a0003c0003t0001 a0001c0002t0001 a0003c0003t0001	a0001c0002t0001g0006 a0003c0003t0001g0012 a0001c0002t0001g0006 a0003c0003t0001g0012	7	432	0.0162	0	c.6T> others(1): Show c.6T>C	p.Ala others(4): Show p.Ala2Ala	CARD18	ENSG00000255501.3	transcript	ENST00000530950.2	protein_coding	1/3	49/702	6/273	2/90		chr11	TogoVar
CARD19_chr9_93091217_93118283	93111869	TTGTTTCC others(19): Show TTGTTTCCAGAGAACTCAGATTGCACA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18972.hp2 NA18972.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0057 a0006c0010t0002g0057	1	358	0.0028	-26	c.305 others(35): Show c.305-9_321delTGTTTCCAGAGAACTCAGATTGCACA	p.Gln others(5): Show p.Gln102fs	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	4/6		305/552	102/183		chr9	TogoVar
CARD9_chr9_136358956_136378669	136370837	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp2 HG02132.hp1 HG02155.hp1 others(2): Show HG02080.hp2 HG02132.hp1 HG02155.hp1 HG03927.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0023 a0001c0001t0001g0037	5	406	0.0123	0	c.627 others(5): Show c.627+4C>T		CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding	4/12					chr9	TogoVar
CARF_chr2_202907275_202993263	202954132	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00438.hp2 NA19085.hp2 HG00438.hp2 NA19085.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0016 a0003c0009t0117 a0003c0009t0016 a0003c0009t0117	a0003c0009t0016g0015 a0003c0009t0117g0019 a0003c0009t0016g0015 a0003c0009t0117g0019	2	334	0.0060	0	c.555 others(3): Show c.555C>T	p.Thr others(6): Show p.Thr185Thr	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	7/17	1712/7974	555/2178	185/725		chr2	TogoVar
CARF_chr2_202907275_202993263	202969913	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp1 NA19240.hp1 HG02809.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0161 a0001c0001t0001g0164	2	334	0.0060	0	c.954 others(5): Show c.954-6A>T		CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	10/16					chr2	TogoVar
CARF_chr2_202907275_202993263	202971745	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp2 HG03139.hp1 NA20300.hp1 HG02976.hp2 HG03139.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0100 a0001c0001t0101 a0001c0001t0015 a0001c0001t0100 a0001c0001t0101	a0001c0001t0015g0009 a0001c0001t0100g0009 a0001c0001t0101g0240 a0001c0001t0015g0009 a0001c0001t0100g0009 a0001c0001t0101g0240	3	334	0.0090	0	c.133 others(6): Show c.1331+7T>C		CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	12/16					chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8855330	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01109.hp1 HG01106.hp2 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0022 a0001c0002t0019g0022	2	470	0.0043	0	c.282 others(5): Show c.282-4G>A		CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3					chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8858470	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0007 a0003c0011t0007	a0003c0011t0007g0256 a0003c0011t0007g0256	1	470	0.0021	0	c.161 others(3): Show c.161C>T	p.Thr others(5): Show p.Thr54Met	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/4	209/2709	161/444	54/147		chr16	TogoVar
CARM1_chr19_10866553_10928075	10919590	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	354	0.0028	0	c.102 others(6): Show c.1021-5C>T		CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	8/15					chr19	TogoVar
CARM1_chr19_10866553_10928075	10919873	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0017 a0003c0007t0017	a0003c0007t0017g0069 a0003c0007t0017g0069	1	354	0.0028	0	c.110 others(6): Show c.1107-4C>G		CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	9/15					chr19	TogoVar
CARM1_chr19_10866553_10928075	10919879	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0017 a0003c0007t0017	a0003c0007t0017g0069 a0003c0007t0017g0069	1	354	0.0028	0	c.110 others(4): Show c.1109T>G	p.Ile others(6): Show p.Ile370Arg	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	10/16	1259/3295	1109/1827	370/608		chr19	TogoVar
CARM1_chr19_10866553_10928075	10920654	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0042 a0001c0001t0045g0042	1	354	0.0028	0	c.133 others(6): Show c.1335-5C>T		CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	11/15					chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25284798	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG02055.hp1 HG02258.hp2 others(5): Show HG00323.hp2 HG02055.hp1 HG02258.hp2 HG02723.hp1 HG03130.hp1 HG03669.hp2 HG03942.hp2 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0004 a0002c0005 others(2): Show a0001c0002 a0001c0004 a0002c0005 a0002c0013 a0004c0011	a0001c0002t0010 a0001c0004t0014 a0002c0005t0007 others(3): Show a0001c0002t0010 a0001c0004t0014 a0002c0005t0007 a0002c0005t0016 a0002c0013t0016 a0004c0011t0003	a0001c0002t0010g0170 a0001c0004t0014g0150 a0002c0005t0007g0151 others(5): Show a0001c0002t0010g0170 a0001c0004t0014g0150 a0002c0005t0007g0151 a0002c0005t0007g0172 a0002c0005t0007g0173 a0002c0005t0016g0171 a0002c0013t0016g0169 a0004c0011t0003g0113	8	186	0.0430	1	c.41- others(5): Show c.41-4dupT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36				INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25420116	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.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 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19072.hp1 NA19072.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(30): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0015 a0001c0018 a0001c0022 a0001c0029 a0001c0031 a0001c0032 a0001c0033 a0001c0037 a0002c0005 a0002c0007 a0002c0013 a0002c0028 a0002c0034 a0003c0010 a0003c0017 a0003c0023 a0003c0024 a0003c0025 a0004c0011 a0005c0019 a0005c0030 a0006c0016 a0008c0035 a0009c0027 a0011c0036 a0012c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(87): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0016 a0001c0002t0022 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0023 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0004t0009 a0001c0004t0012 a0001c0004t0014 a0001c0004t0018 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0006t0014 a0001c0008t0001 a0001c0008t0010 a0001c0012t0005 a0001c0012t0006 a0001c0015t0002 a0001c0015t0004 a0001c0015t0009 a0001c0018t0001 a0001c0022t0002 a0001c0029t0006 a0001c0031t0004 a0001c0032t0011 a0001c0033t0001 a0001c0037t0002 a0002c0005t0003 a0002c0005t0005 a0002c0005t0006 a0002c0005t0007 a0002c0005t0013 a0002c0005t0016 a0002c0005t0024 a0002c0007t0003 a0002c0007t0006 a0002c0007t0020 a0002c0013t0003 a0002c0013t0010 a0002c0013t0013 a0002c0013t0016 a0002c0028t0003 a0002c0034t0011 a0003c0010t0003 a0003c0010t0005 a0003c0017t0006 a0003c0017t0007 a0003c0023t0002 a0003c0024t0008 a0003c0025t0002 a0004c0011t0003 a0004c0011t0006 a0004c0011t0013 a0005c0019t0001 a0005c0019t0005 a0005c0030t0005 a0006c0016t0001 a0006c0016t0005 a0008c0035t0004 a0009c0027t0002 a0011c0036t0001 a0012c0026t0002	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0050 others(174): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0001t0003g0071 a0001c0001t0003g0128 a0001c0001t0005g0095 a0001c0001t0005g0136 a0001c0001t0005g0147 a0001c0001t0006g0061 a0001c0001t0007g0141 a0001c0001t0007g0143 a0001c0001t0008g0101 a0001c0001t0008g0133 a0001c0001t0010g0140 a0001c0001t0012g0179 a0001c0001t0015g0176 a0001c0001t0015g0184 a0001c0001t0019g0014 a0001c0001t0021g0163 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0105 a0001c0002t0001g0111 a0001c0002t0003g0017 a0001c0002t0003g0060 a0001c0002t0005g0154 a0001c0002t0005g0157 a0001c0002t0005g0175 a0001c0002t0005g0180 a0001c0002t0007g0146 a0001c0002t0008g0013 a0001c0002t0008g0026 a0001c0002t0008g0090 a0001c0002t0010g0170 a0001c0002t0011g0029 a0001c0002t0012g0174 a0001c0002t0012g0183 a0001c0002t0016g0135 a0001c0002t0022g0164 a0001c0003t0002g0002 a0001c0003t0002g0010 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0052 a0001c0003t0002g0057 a0001c0003t0002g0059 a0001c0003t0002g0082 a0001c0003t0002g0089 a0001c0003t0002g0114 a0001c0003t0003g0053 a0001c0003t0004g0022 a0001c0003t0004g0092 a0001c0003t0007g0144 a0001c0003t0008g0127 a0001c0003t0009g0134 a0001c0003t0009g0137 a0001c0003t0009g0138 a0001c0003t0010g0155 a0001c0003t0010g0185 a0001c0003t0023g0161 a0001c0004t0002g0015 a0001c0004t0002g0043 a0001c0004t0002g0079 a0001c0004t0002g0088 a0001c0004t0004g0023 a0001c0004t0004g0036 a0001c0004t0004g0039 a0001c0004t0004g0040 a0001c0004t0004g0048 a0001c0004t0004g0096 a0001c0004t0004g0115 a0001c0004t0004g0121 a0001c0004t0006g0027 a0001c0004t0009g0182 a0001c0004t0012g0177 a0001c0004t0014g0150 a0001c0004t0014g0178 a0001c0004t0018g0093 a0001c0006t0001g0126 a0001c0006t0002g0074 a0001c0006t0002g0087 a0001c0006t0002g0099 a0001c0006t0002g0106 a0001c0006t0002g0110 a0001c0006t0002g0117 a0001c0006t0002g0131 a0001c0006t0003g0049 a0001c0006t0003g0069 a0001c0006t0004g0062 a0001c0006t0014g0149 a0001c0008t0001g0003 a0001c0008t0001g0018 a0001c0008t0001g0066 a0001c0008t0001g0100 a0001c0008t0010g0148 a0001c0012t0005g0156 a0001c0012t0006g0118 a0001c0012t0006g0119 a0001c0012t0006g0120 a0001c0015t0002g0032 a0001c0015t0004g0098 a0001c0015t0009g0145 a0001c0018t0001g0075 a0001c0018t0001g0094 a0001c0022t0002g0108 a0001c0029t0006g0129 a0001c0031t0004g0004 a0001c0032t0011g0097 a0001c0033t0001g0124 a0001c0037t0002g0083 a0002c0005t0003g0011 a0002c0005t0003g0028 a0002c0005t0003g0045 a0002c0005t0003g0073 a0002c0005t0005g0158 a0002c0005t0006g0021 a0002c0005t0006g0116 a0002c0005t0007g0151 a0002c0005t0007g0172 a0002c0005t0007g0173 a0002c0005t0013g0123 a0002c0005t0016g0171 a0002c0005t0024g0162 a0002c0007t0003g0006 a0002c0007t0003g0024 a0002c0007t0006g0033 a0002c0007t0006g0035 a0002c0007t0006g0091 a0002c0007t0020g0181 a0002c0013t0003g0067 a0002c0013t0010g0047 a0002c0013t0013g0186 a0002c0013t0016g0169 a0002c0028t0003g0038 a0002c0034t0011g0122 a0003c0010t0003g0104 a0003c0010t0003g0112 a0003c0010t0003g0132 a0003c0010t0005g0142 a0003c0017t0006g0103 a0003c0017t0007g0153 a0003c0023t0002g0072 a0003c0024t0008g0019 a0003c0025t0002g0063 a0004c0011t0003g0077 a0004c0011t0003g0113 a0004c0011t0006g0044 a0004c0011t0013g0055 a0005c0019t0001g0034 a0005c0019t0005g0139 a0005c0030t0005g0159 a0006c0016t0001g0030 a0006c0016t0005g0165 a0006c0016t0005g0168 a0008c0035t0004g0107 a0009c0027t0002g0042 a0011c0036t0001g0001 a0012c0026t0002g0070	177	186	0.9516	0	c.141 others(3): Show c.141C>G	p.Val others(5): Show p.Val47Val	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	3/37	563/5485	141/4116	47/1371		chr6	TogoVar
CARMIL2_chr16_67640144_67662569	67648677	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01070.hp2 HG01071.hp1 others(42): Show HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01346.hp1 HG02055.hp2 HG02145.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0012	a0001c0001 a0001c0012 a0001c0014 others(5): Show a0001c0001 a0001c0012 a0001c0014 a0001c0022 a0002c0003 a0005c0005 a0008c0020 a0012c0017	a0001c0001t0001 a0001c0012t0001 a0001c0014t0001 others(5): Show a0001c0001t0001 a0001c0012t0001 a0001c0014t0001 a0001c0022t0001 a0002c0003t0001 a0005c0005t0001 a0008c0020t0001 a0012c0017t0001	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(25): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0012t0001g0037 a0001c0014t0001g0067 a0001c0022t0001g0017 a0002c0003t0001g0011 a0002c0003t0001g0077 a0002c0003t0001g0078 a0005c0005t0001g0030 a0005c0005t0001g0063 a0005c0005t0001g0064 a0008c0020t0001g0035 a0012c0017t0001g0011	45	282	0.1596	0	c.144 others(6): Show c.1440-8T>C		CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding	15/37					chr16	TogoVar
CARMIL2_chr16_67640144_67662569	67650155	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	282	0.0036	0	c.218 others(6): Show c.2184+5A>G		CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding	22/37					chr16	TogoVar
CARMIL2_chr16_67640144_67662569	67651395	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02723.hp2 HG02622.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0075 a0001c0001t0001g0076	2	282	0.0071	0	c.231 others(6): Show c.2314-6C>T		CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding	23/37					chr16	TogoVar
CARMIL2_chr16_67640144_67662569	67651913	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02723.hp2 HG02622.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0075 a0001c0001t0001g0076	2	282	0.0071	0	c.258 others(6): Show c.2589-8G>C		CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding	25/37					chr16	TogoVar
CARMIL2_chr16_67640144_67662569	67652338	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01934.hp1 HG01934.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0001 a0015c0016t0001g0001	1	282	0.0036	0	c.281 others(4): Show c.2816A>G	p.Lys others(6): Show p.Lys939Arg	CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding	27/38	2919/4462	2816/4308	939/1435		chr16	TogoVar
CARMIL2_chr16_67640144_67662569	67653021	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01175.hp1 HG01175.hp1	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0001 a0014c0011t0001	a0014c0011t0001g0001 a0014c0011t0001g0001	1	282	0.0036	0	c.288 others(4): Show c.2887G>A	p.Ala others(6): Show p.Ala963Thr	CARMIL2	ENSG00000159753.15	transcript	ENST00000334583.11	protein_coding	29/38	2990/4462	2887/4308	963/1435		chr16	TogoVar
CARMIL3_chr14_24047009_24074729	24053702	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01071.hp1 HG01081.hp2 others(24): Show HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01515.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02735.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp1 NA18953.hp2 NA18997.hp1 NA18999.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0008 a0022	a0001c0001 a0002c0004 a0002c0032 others(4): Show a0001c0001 a0002c0004 a0002c0032 a0005c0012 a0007c0016 a0008c0018 a0022c0034	a0001c0001t0001 a0002c0004t0001 a0002c0032t0001 others(4): Show a0001c0001t0001 a0002c0004t0001 a0002c0032t0001 a0005c0012t0001 a0007c0016t0001 a0008c0018t0001 a0022c0034t0001	a0001c0001t0001g0009 a0001c0001t0001g0110 a0001c0001t0001g0113 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0002c0004t0001g0026 a0002c0004t0001g0112 a0002c0032t0001g0111 a0005c0012t0001g0007 a0007c0016t0001g0043 a0007c0016t0001g0115 a0008c0018t0001g0007 a0022c0034t0001g0117	27	414	0.0652	0	c.41- others(4): Show c.41-7C>G		CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	1/39					chr14	TogoVar
CARMIL3_chr14_24047009_24074729	24053703	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp1 HG02886.hp2 HG01261.hp1 HG02886.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0025c0052 a0001c0001 a0025c0052	a0001c0001t0001 a0025c0052t0001 a0001c0001t0001 a0025c0052t0001	a0001c0001t0001g0109 a0025c0052t0001g0148 a0001c0001t0001g0109 a0025c0052t0001g0148	2	414	0.0048	0	c.41- others(4): Show c.41-6C>G		CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	1/39					chr14	TogoVar
CARMIL3_chr14_24047009_24074729	24053704	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18941.hp2 NA18950.hp1 NA18941.hp2 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	2	414	0.0048	0	c.41- others(4): Show c.41-5C>G		CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	1/39					chr14	TogoVar
CARMIL3_chr14_24047009_24074729	24053704	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02615.hp1 HG02818.hp2 others(1): Show HG01109.hp2 HG02615.hp1 HG02818.hp2 HG03516.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0021 a0002c0015t0002g0021	4	414	0.0097	0	c.41- others(4): Show c.41-5C>T		CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	1/39					chr14	TogoVar
CARMIL3_chr14_24047009_24074729	24054235	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02109.hp1	a0016 a0016	a0016c0039 a0016c0039	a0016c0039t0001 a0016c0039t0001	a0016c0039t0001g0108 a0016c0039t0001g0108	1	414	0.0024	0	c.187 others(5): Show c.187-7C>T		CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	3/39					chr14	TogoVar
CARMIL3_chr14_24047009_24074729	24054518	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	414	0.0024	0	c.362 others(5): Show c.362+7G>A		CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	5/39					chr14	TogoVar
CARMIL3_chr14_24047009_24074729	24055703	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0001 a0002c0054t0001	a0002c0054t0001g0140 a0002c0054t0001g0140	1	414	0.0024	0	c.684 others(3): Show c.684C>T	p.Gly others(6): Show p.Gly228Gly	CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	10/40	829/4589	684/4119	228/1372		chr14	TogoVar
CARMIL3_chr14_24047009_24074729	24057169	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01109.hp2 HG02615.hp1 HG02818.hp2 others(1): Show HG01109.hp2 HG02615.hp1 HG02818.hp2 HG03516.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0021 a0002c0015t0002g0021	4	414	0.0097	0	c.106 others(4): Show c.1065C>T	p.Ala others(6): Show p.Ala355Ala	CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	14/40	1210/4589	1065/4119	355/1372		chr14	TogoVar
CARMIL3_chr14_24047009_24074729	24069728	T T	A A	splice_region_variant splice_region_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0137 a0001c0003t0004g0137	1	414	0.0024	0	c.32 others(4): Show c.324T>A		CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	40/40					chr14	TogoVar
CARNS1_chr11_67410678_67430604	67418528	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	346	0.0029	0	c.364 others(5): Show c.364+8T>A		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	4/9					chr11	TogoVar
CARNS1_chr11_67410678_67430604	67420838	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0003 a0016c0014t0003	a0016c0014t0003g0005 a0016c0014t0003g0005	1	346	0.0029	0	c.134 others(4): Show c.1343T>G	p.Leu others(6): Show p.Leu448Arg	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	8/10	1453/3966	1343/2853	448/950		chr11	TogoVar
CARS1_chr11_2995929_3062423	3006966	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	321	0.0031	0	c.206 others(6): Show c.2069-7C>G		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	18/22					chr11	TogoVar
CARS1_chr11_2995929_3062423	3020214	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG00642.hp2 HG01109.hp1 others(21): Show HG00639.hp2 HG00642.hp2 HG01109.hp1 HG02109.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0005 a0008c0019 a0001c0001 a0001c0005 a0008c0019	a0001c0001t0001 a0001c0005t0001 a0008c0019t0001 a0001c0001t0001 a0001c0005t0001 a0008c0019t0001	a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0005t0001g0204 a0001c0005t0001g0244 a0008c0019t0001g0245	24	321	0.0748	0	c.126 others(6): Show c.1266+6C>T		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	11/22					chr11	TogoVar
CARS1_chr11_2995929_3062423	3039191	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp1 HG03130.hp1 HG01433.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0287 a0001c0001t0001g0288	2	321	0.0062	0	c.651 others(5): Show c.651+3G>A		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	6/22					chr11	TogoVar

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