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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Select column to sort.

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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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CARD19_chr9_93091217_93118283	93106420	A A	AAAAAAAA others(1): Show AAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02300.hp2 HG03209.hp2 others(10): Show HG01255.hp2 HG02300.hp2 HG03209.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0040 a0002c0003t0001g0153 others(4): Show a0002c0003t0001g0011 a0002c0003t0001g0040 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157	13	358	0.0363	8	c.8-1 others(21): Show c.8-1247_8-1246insTAAAAAAA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CARD6_chr5_40836367_40860354	40850413	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG01168.hp2 others(19): Show HG00597.hp1 HG00642.hp1 HG01168.hp2 HG01255.hp2 HG02080.hp1 HG02280.hp2 HG02602.hp2 HG02723.hp1 HG02809.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp2 NA18906.hp1 NA18977.hp2 NA19043.hp1 NA19043.hp2 NA19075.hp1 NA19080.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0007 a0001c0001 a0002c0003 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0002c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0004 a0006c0007t0003	a0001c0001t0001g0037 a0001c0001t0001g0141 a0001c0001t0001g0157 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0201 a0001c0001t0003g0026 a0001c0001t0003g0089 a0001c0001t0003g0138 a0001c0001t0003g0200 a0002c0003t0004g0027 a0002c0003t0004g0195 a0006c0007t0003g0061 a0006c0007t0003g0193	22	440	0.0500	8	c.842 others(25): Show c.842-1748_842-1741dupAAAAAAAA	CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CARD8_chr19_48203086_48260912	48207734	G G	GGTTTTGT others(1): Show GGTTTTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02622.hp2 others(3): Show HG01433.hp1 HG01891.hp1 HG02622.hp2 HG02647.hp1 HG03486.hp1 HG03540.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0059 a0004c0007t0008 a0004c0007t0059	a0004c0007t0008g0035 a0004c0007t0008g0036 a0004c0007t0008g0062 others(3): Show a0004c0007t0008g0035 a0004c0007t0008g0036 a0004c0007t0008g0062 a0004c0007t0008g0063 a0004c0007t0008g0180 a0004c0007t0059g0323	6	362	0.0166	8	c.39 others(19): Show c.3975_*3976insAACAAAAC	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		351		chr19	TogoVar
CARD8_chr19_48203086_48260912	48207744	T T	TTGTTTTT others(1): Show TTGTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01261.hp1 HG02723.hp2 others(6): Show HG00733.hp1 HG01261.hp1 HG02723.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03579.hp2 NA19030.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0010 a0004c0007 a0004c0011 others(1): Show a0001c0010 a0004c0007 a0004c0011 a0007c0015	a0001c0010t0011 a0004c0007t0029 a0004c0011t0008 others(1): Show a0001c0010t0011 a0004c0007t0029 a0004c0011t0008 a0007c0015t0032	a0001c0010t0011g0313 a0004c0007t0029g0160 a0004c0007t0029g0161 others(5): Show a0001c0010t0011g0313 a0004c0007t0029g0160 a0004c0007t0029g0161 a0004c0011t0008g0009 a0004c0011t0008g0124 a0004c0011t0008g0151 a0007c0015t0032g0334 a0007c0015t0032g0335	9	362	0.0249	8	c.39 others(19): Show c.3965_*3966insCAAAAACA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		341		chr19	TogoVar
CARD8_chr19_48203086_48260912	48221006	G G	GAGAGAAA others(1): Show GAGAGAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01071.hp2 others(25): Show HG00642.hp1 HG00738.hp2 HG01071.hp2 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01361.hp2 HG01928.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02083.hp1 HG02135.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02735.hp2 HG02738.hp1 HG03654.hp1 HG03831.hp2 HG03927.hp2 NA18941.hp1 NA19002.hp2 NA19010.hp2 NA19081.hp2 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0012 a0003c0006 others(1): Show a0001c0003 a0002c0012 a0003c0006 a0003c0019	a0001c0003t0005 a0001c0003t0006 a0001c0003t0014 others(9): Show a0001c0003t0005 a0001c0003t0006 a0001c0003t0014 a0001c0003t0028 a0001c0003t0037 a0001c0003t0047 a0001c0003t0055 a0002c0012t0003 a0002c0012t0005 a0003c0006t0003 a0003c0006t0016 a0003c0019t0006	a0001c0003t0005g0025 a0001c0003t0005g0027 a0001c0003t0005g0048 others(25): Show a0001c0003t0005g0025 a0001c0003t0005g0027 a0001c0003t0005g0048 a0001c0003t0005g0061 a0001c0003t0005g0088 a0001c0003t0005g0089 a0001c0003t0005g0090 a0001c0003t0005g0091 a0001c0003t0005g0122 a0001c0003t0005g0139 a0001c0003t0005g0169 a0001c0003t0005g0186 a0001c0003t0005g0191 a0001c0003t0006g0029 a0001c0003t0006g0116 a0001c0003t0006g0140 a0001c0003t0014g0026 a0001c0003t0014g0043 a0001c0003t0028g0028 a0001c0003t0037g0067 a0001c0003t0047g0095 a0001c0003t0055g0308 a0002c0012t0003g0071 a0002c0012t0003g0072 a0002c0012t0005g0230 a0003c0006t0003g0041 a0003c0006t0016g0314 a0003c0019t0006g0115	28	362	0.0774	8	c.116 others(25): Show c.1161+723_1161+724insTTTTCTCT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48252808	T T	TATATACA others(1): Show TATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00673.hp1 others(34): Show HG00408.hp2 HG00423.hp1 HG00673.hp1 HG01346.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG02129.hp1 HG02135.hp1 HG02895.hp2 HG02965.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp1 HG03834.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18956.hp2 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0003c0006	a0001c0002t0011 a0001c0002t0054 a0001c0003t0023 others(10): Show a0001c0002t0011 a0001c0002t0054 a0001c0003t0023 a0001c0003t0031 a0001c0004t0031 a0001c0005t0051 a0002c0001t0004 a0002c0001t0010 a0002c0001t0011 a0002c0001t0018 a0002c0001t0057 a0002c0001t0058 a0003c0006t0016	a0001c0002t0011g0280 a0001c0002t0011g0284 a0001c0002t0011g0285 others(30): Show a0001c0002t0011g0280 a0001c0002t0011g0284 a0001c0002t0011g0285 a0001c0002t0054g0281 a0001c0003t0023g0016 a0001c0003t0023g0320 a0001c0003t0031g0283 a0001c0004t0031g0302 a0001c0005t0051g0275 a0002c0001t0004g0004 a0002c0001t0004g0017 a0002c0001t0004g0277 a0002c0001t0004g0286 a0002c0001t0004g0288 a0002c0001t0004g0292 a0002c0001t0004g0293 a0002c0001t0004g0294 a0002c0001t0004g0295 a0002c0001t0004g0297 a0002c0001t0004g0298 a0002c0001t0004g0299 a0002c0001t0004g0300 a0002c0001t0004g0303 a0002c0001t0010g0278 a0002c0001t0010g0290 a0002c0001t0010g0296 a0002c0001t0010g0301 a0002c0001t0011g0276 a0002c0001t0018g0282 a0002c0001t0018g0289 a0002c0001t0057g0287 a0002c0001t0058g0291 a0003c0006t0016g0279	37	362	0.1022	8	c.-25 others(27): Show c.-251-2962_-251-2961insGTGTATAT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	1/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48252808	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02135.hp2 others(6): Show HG01168.hp2 HG01169.hp1 HG02135.hp2 HG02630.hp1 HG02630.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp1 NA18965.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0002c0001 a0003c0006	a0001c0002t0064 a0001c0003t0003 a0001c0005t0019 others(3): Show a0001c0002t0064 a0001c0003t0003 a0001c0005t0019 a0002c0001t0018 a0002c0001t0020 a0003c0006t0003	a0001c0002t0064g0332 a0001c0003t0003g0042 a0001c0005t0019g0331 others(5): Show a0001c0002t0064g0332 a0001c0003t0003g0042 a0001c0005t0019g0331 a0002c0001t0018g0274 a0002c0001t0020g0021 a0002c0001t0020g0329 a0002c0001t0020g0330 a0003c0006t0003g0041	9	362	0.0249	8	c.-25 others(27): Show c.-251-2962_-251-2961insGTATATAT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	1/13			chr19	TogoVar
CARF_chr2_202907275_202993263	202916162	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02258.hp1 others(10): Show HG01109.hp2 HG01884.hp1 HG02258.hp1 HG02572.hp2 HG02717.hp1 HG02818.hp1 HG02896.hp2 HG03098.hp2 HG03130.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0012 a0002c0002 a0002c0012	a0002c0002t0012 a0002c0002t0015 a0002c0002t0022 others(6): Show a0002c0002t0012 a0002c0002t0015 a0002c0002t0022 a0002c0002t0023 a0002c0002t0046 a0002c0002t0098 a0002c0002t0099 a0002c0002t0105 a0002c0012t0012	a0002c0002t0012g0312 a0002c0002t0012g0314 a0002c0002t0012g0317 others(10): Show a0002c0002t0012g0312 a0002c0002t0012g0314 a0002c0002t0012g0317 a0002c0002t0015g0311 a0002c0002t0015g0316 a0002c0002t0015g0323 a0002c0002t0022g0309 a0002c0002t0023g0313 a0002c0002t0046g0315 a0002c0002t0098g0318 a0002c0002t0099g0322 a0002c0002t0105g0321 a0002c0012t0012g0310	13	334	0.0389	8	c.-32 others(27): Show c.-329-1687_-329-1680dupATTTATTT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202943587	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00733.hp1 others(35): Show HG00408.hp1 HG00408.hp2 HG00733.hp1 HG01106.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01981.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18954.hp2 NA18962.hp2 NA18965.hp2 NA18993.hp1 NA19009.hp2 NA19030.hp1 NA19062.hp2 NA19070.hp1 NA19078.hp1 NA19091.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0006 a0001c0001 a0001c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0037 a0001c0001t0038 a0001c0001t0065 a0001c0001t0068 a0001c0001t0071 a0001c0001t0073 a0001c0001t0076 a0001c0001t0081 a0001c0001t0090 a0001c0001t0114 a0001c0005t0040 a0001c0005t0060 a0005c0006t0058	a0001c0001t0001g0289 a0001c0001t0002g0036 a0001c0001t0002g0088 others(35): Show a0001c0001t0001g0289 a0001c0001t0002g0036 a0001c0001t0002g0088 a0001c0001t0002g0108 a0001c0001t0002g0125 a0001c0001t0003g0183 a0001c0001t0003g0201 a0001c0001t0003g0209 a0001c0001t0005g0058 a0001c0001t0005g0070 a0001c0001t0005g0100 a0001c0001t0005g0107 a0001c0001t0006g0149 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0168 a0001c0001t0006g0196 a0001c0001t0007g0158 a0001c0001t0007g0202 a0001c0001t0008g0080 a0001c0001t0008g0115 a0001c0001t0021g0021 a0001c0001t0021g0022 a0001c0001t0024g0134 a0001c0001t0026g0106 a0001c0001t0037g0084 a0001c0001t0038g0056 a0001c0001t0065g0032 a0001c0001t0068g0123 a0001c0001t0071g0039 a0001c0001t0073g0083 a0001c0001t0076g0037 a0001c0001t0081g0041 a0001c0001t0090g0064 a0001c0001t0114g0116 a0001c0005t0040g0325 a0001c0005t0060g0145 a0005c0006t0058g0248	38	334	0.1138	8	c.306 others(23): Show c.306+656_306+663dupCACACACA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202958249	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(117): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00738.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01516.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02976.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0001c0011 others(4): Show a0001c0001 a0001c0008 a0001c0011 a0002c0002 a0003c0007 a0003c0009 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0061 a0001c0001t0093 a0001c0001t0094 a0001c0001t0102 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0111 a0001c0001t0113 a0001c0008t0022 a0001c0011t0004 a0002c0002t0012 a0002c0002t0023 a0003c0007t0048 a0003c0007t0118 a0003c0009t0016 a0003c0009t0117 a0004c0004t0020 a0004c0004t0034 a0004c0004t0054	a0001c0001t0001g0007 a0001c0001t0001g0094 a0001c0001t0001g0095 others(116): Show a0001c0001t0001g0007 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0289 a0001c0001t0002g0125 a0001c0001t0003g0059 a0001c0001t0003g0150 a0001c0001t0003g0155 a0001c0001t0003g0160 a0001c0001t0003g0166 a0001c0001t0003g0171 a0001c0001t0003g0189 a0001c0001t0003g0201 a0001c0001t0003g0209 a0001c0001t0003g0214 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0004g0006 a0001c0001t0004g0156 a0001c0001t0004g0172 a0001c0001t0004g0178 a0001c0001t0004g0221 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0238 a0001c0001t0004g0290 a0001c0001t0006g0007 a0001c0001t0006g0060 a0001c0001t0006g0149 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0159 a0001c0001t0006g0196 a0001c0001t0006g0206 a0001c0001t0006g0230 a0001c0001t0006g0236 a0001c0001t0006g0239 a0001c0001t0006g0244 a0001c0001t0007g0031 a0001c0001t0007g0158 a0001c0001t0007g0165 a0001c0001t0007g0208 a0001c0001t0007g0237 a0001c0001t0007g0241 a0001c0001t0007g0288 a0001c0001t0009g0157 a0001c0001t0009g0169 a0001c0001t0009g0179 a0001c0001t0009g0182 a0001c0001t0009g0184 a0001c0001t0009g0191 a0001c0001t0009g0212 a0001c0001t0009g0215 a0001c0001t0009g0234 a0001c0001t0010g0252 a0001c0001t0010g0257 a0001c0001t0010g0267 a0001c0001t0010g0268 a0001c0001t0010g0273 a0001c0001t0011g0027 a0001c0001t0011g0203 a0001c0001t0011g0227 a0001c0001t0013g0251 a0001c0001t0013g0253 a0001c0001t0013g0265 a0001c0001t0013g0272 a0001c0001t0013g0280 a0001c0001t0017g0271 a0001c0001t0018g0269 a0001c0001t0018g0270 a0001c0001t0018g0283 a0001c0001t0019g0295 a0001c0001t0020g0285 a0001c0001t0029g0217 a0001c0001t0030g0192 a0001c0001t0030g0194 a0001c0001t0030g0195 a0001c0001t0032g0254 a0001c0001t0032g0255 a0001c0001t0033g0051 a0001c0001t0033g0286 a0001c0001t0034g0284 a0001c0001t0041g0185 a0001c0001t0041g0186 a0001c0001t0043g0023 a0001c0001t0043g0025 a0001c0001t0044g0207 a0001c0001t0052g0266 a0001c0001t0055g0274 a0001c0001t0056g0260 a0001c0001t0061g0223 a0001c0001t0093g0148 a0001c0001t0094g0024 a0001c0001t0102g0174 a0001c0001t0106g0096 a0001c0001t0108g0190 a0001c0001t0109g0093 a0001c0001t0111g0193 a0001c0001t0113g0188 a0001c0008t0022g0242 a0001c0011t0004g0233 a0002c0002t0012g0307 a0002c0002t0023g0306 a0003c0007t0048g0012 a0003c0007t0118g0016 a0003c0009t0016g0015 a0003c0009t0117g0019 a0004c0004t0020g0275 a0004c0004t0034g0276 a0004c0004t0054g0278	120	334	0.3593	8	c.642 others(25): Show c.642+2515_642+2522dupGTGTGTGT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202960779	T T	TTCCCTCC others(1): Show TTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG00738.hp2 others(11): Show HG00438.hp2 HG00735.hp1 HG00738.hp2 HG01099.hp2 HG01167.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 NA18952.hp1 NA18966.hp2 NA19085.hp2 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0009 others(1): Show a0003c0003 a0003c0007 a0003c0009 a0003c0013	a0003c0003t0016 a0003c0003t0047 a0003c0003t0048 others(7): Show a0003c0003t0016 a0003c0003t0047 a0003c0003t0048 a0003c0003t0115 a0003c0003t0116 a0003c0007t0048 a0003c0007t0118 a0003c0009t0016 a0003c0009t0117 a0003c0013t0119	a0003c0003t0016g0002 a0003c0003t0016g0013 a0003c0003t0016g0014 others(10): Show a0003c0003t0016g0002 a0003c0003t0016g0013 a0003c0003t0016g0014 a0003c0003t0016g0017 a0003c0003t0047g0001 a0003c0003t0048g0011 a0003c0003t0115g0018 a0003c0003t0116g0002 a0003c0007t0048g0012 a0003c0007t0118g0016 a0003c0009t0016g0015 a0003c0009t0117g0019 a0003c0013t0119g0010	14	334	0.0419	8	c.643 others(23): Show c.643-450_643-443dupCTCCCTCC	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202980616	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00673.hp1 others(38): Show HG00408.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01952.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03453.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG06807.hp1 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18954.hp2 NA18959.hp2 NA18977.hp1 NA18982.hp2 NA18993.hp1 NA18994.hp2 NA19001.hp1 NA19081.hp1 NA19088.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0065 a0001c0001t0067 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0085 a0001c0001t0090	a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0200 others(38): Show a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0200 a0001c0001t0002g0082 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0003g0155 a0001c0001t0005g0070 a0001c0001t0005g0100 a0001c0001t0005g0107 a0001c0001t0005g0142 a0001c0001t0005g0294 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0008g0035 a0001c0001t0008g0077 a0001c0001t0008g0078 a0001c0001t0008g0115 a0001c0001t0009g0179 a0001c0001t0017g0261 a0001c0001t0017g0271 a0001c0001t0018g0283 a0001c0001t0019g0295 a0001c0001t0025g0074 a0001c0001t0027g0050 a0001c0001t0032g0255 a0001c0001t0033g0051 a0001c0001t0035g0105 a0001c0001t0036g0066 a0001c0001t0038g0056 a0001c0001t0051g0246 a0001c0001t0052g0266 a0001c0001t0053g0256 a0001c0001t0065g0032 a0001c0001t0067g0124 a0001c0001t0077g0042 a0001c0001t0078g0072 a0001c0001t0079g0071 a0001c0001t0080g0052 a0001c0001t0085g0020 a0001c0001t0090g0064	41	334	0.1228	8	c.155 others(25): Show c.1559-900_1559-893dupTATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG01516.hp2 others(13): Show HG00099.hp1 HG00609.hp2 HG01516.hp2 HG02486.hp1 HG03017.hp2 HG03490.hp2 HG04199.hp1 NA18747.hp1 NA18952.hp1 NA18967.hp2 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA19009.hp1 NA19082.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0081 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0081 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0322 a0001c0001t0001g0340 a0001c0002t0001g0203 a0001c0002t0001g0336	16	470	0.0340	8	c.31 others(19): Show c.3179_*3186dupAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(1): Show GTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01192.hp1 others(6): Show HG00639.hp2 HG01069.hp1 HG01192.hp1 HG02622.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0201 a0001c0001t0002g0414 a0001c0002t0002g0031 others(6): Show a0001c0001t0002g0201 a0001c0001t0002g0414 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0134 a0001c0002t0002g0202 a0001c0002t0002g0347 a0001c0002t0002g0412	9	470	0.0192	8	c.281 others(25): Show c.281+1086_281+1087insACAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857269	T T	TGTTTTTT others(1): Show TGTTTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02647.hp1 HG02896.hp2 others(1): Show HG00323.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0103 a0001c0004t0002g0079 a0001c0004t0002g0115 others(1): Show a0001c0002t0002g0103 a0001c0004t0002g0079 a0001c0004t0002g0115 a0001c0004t0002g0116	4	470	0.0085	8	c.281 others(25): Show c.281+1080_281+1081insCAAAAAAC	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01123.hp2 others(23): Show HG00408.hp2 HG00597.hp2 HG01123.hp2 HG01168.hp2 HG01516.hp2 HG01517.hp2 HG02074.hp2 HG02148.hp2 HG02572.hp2 HG02683.hp2 HG02698.hp2 HG03453.hp2 HG04115.hp1 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18977.hp2 NA18995.hp2 NA18999.hp1 NA19003.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19077.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 a0001c0002t0004 a0001c0003t0015 a0001c0003t0016	a0001c0001t0001g0011 a0001c0001t0001g0086 a0001c0001t0001g0112 others(22): Show a0001c0001t0001g0011 a0001c0001t0001g0086 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0236 a0001c0001t0001g0280 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0314 a0001c0001t0001g0388 a0001c0001t0001g0424 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0020g0299 a0001c0002t0001g0205 a0001c0002t0004g0140 a0001c0003t0015g0415 a0001c0003t0016g0074	26	470	0.0553	8	c.-7- others(23): Show c.-7-2662_-7-2655dupAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25281127	T T	TGTGCGCG others(1): Show TGTGCGCGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp2 HG02083.hp2 others(11): Show HG00323.hp1 HG01243.hp2 HG02083.hp2 HG02486.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp2 NA18956.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0015 a0001c0029 a0001c0032 a0003c0010 a0003c0017 a0008c0035	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0003t0008 a0001c0006t0002 a0001c0008t0001 a0001c0015t0004 a0001c0029t0006 a0001c0032t0011 a0003c0010t0003 a0003c0017t0006 a0008c0035t0004	a0001c0001t0001g0102 a0001c0001t0003g0128 a0001c0001t0008g0101 others(11): Show a0001c0001t0001g0102 a0001c0001t0003g0128 a0001c0001t0008g0101 a0001c0002t0001g0105 a0001c0003t0008g0127 a0001c0006t0002g0099 a0001c0006t0002g0106 a0001c0008t0001g0100 a0001c0015t0004g0098 a0001c0029t0006g0129 a0001c0032t0011g0097 a0003c0010t0003g0104 a0003c0017t0006g0103 a0008c0035t0004g0107	14	186	0.0753	8	c.40+ others(23): Show c.40+1293_40+1294insTGCGCGCG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0031 a0001c0002 a0001c0031	a0001c0002t0001 a0001c0031t0004 a0001c0002t0001 a0001c0031t0004	a0001c0002t0001g0005 a0001c0031t0004g0004 a0001c0002t0001g0005 a0001c0031t0004g0004	2	186	0.0108	8	c.40+ others(23): Show c.40+1327_40+1334dupACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25293265	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG01433.hp1 others(6): Show HG01106.hp2 HG01175.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp1 HG02055.hp2 HG02257.hp1 HG02896.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 others(6): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 a0001c0002t0008 a0001c0004t0004 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0002c0007t0006	a0001c0001t0001g0130 a0001c0001t0015g0184 a0001c0002t0003g0060 others(6): Show a0001c0001t0001g0130 a0001c0001t0015g0184 a0001c0002t0003g0060 a0001c0002t0008g0090 a0001c0004t0004g0096 a0001c0006t0001g0126 a0001c0006t0002g0110 a0001c0006t0003g0049 a0002c0007t0006g0091	9	186	0.0484	8	c.138 others(25): Show c.138+8389_138+8396dupGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296893	T T	TTATCTAT others(1): Show TTATCTATC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp2 HG03834.hp1 HG03834.hp2	a0001 a0003 a0001 a0003	a0001c0015 a0003c0010 a0001c0015 a0003c0010	a0001c0015t0002 a0003c0010t0005 a0001c0015t0002 a0003c0010t0005	a0001c0015t0002g0032 a0003c0010t0005g0142 a0001c0015t0002g0032 a0003c0010t0005g0142	2	186	0.0108	8	c.138 others(27): Show c.138+12018_138+12025dupATCTATCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296934	T T	TATCTTTA others(1): Show TATCTTTAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01175.hp2 HG02135.hp1 others(6): Show HG00621.hp2 HG01175.hp2 HG02135.hp1 HG02895.hp2 HG03139.hp1 HG03195.hp1 NA18956.hp1 NA19011.hp1 NA19072.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0012 a0002c0005 a0005c0019 a0006c0016	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0007 a0001c0008t0010 a0001c0012t0005 a0002c0005t0003 a0005c0019t0005 a0006c0016t0001	a0001c0001t0003g0128 a0001c0001t0005g0136 a0001c0001t0010g0140 others(6): Show a0001c0001t0003g0128 a0001c0001t0005g0136 a0001c0001t0010g0140 a0001c0002t0007g0146 a0001c0008t0010g0148 a0001c0012t0005g0156 a0002c0005t0003g0028 a0005c0019t0005g0139 a0006c0016t0001g0030	9	186	0.0484	8	c.138 others(27): Show c.138+12025_138+12026insATCTTTAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296935	T T	TTAACTAA others(1): Show TTAACTAAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03942.hp2 HG03669.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0014 a0002c0005t0007 a0001c0004t0014 a0002c0005t0007	a0001c0004t0014g0150 a0002c0005t0007g0151 a0001c0004t0014g0150 a0002c0005t0007g0151	2	186	0.0108	8	c.138 others(27): Show c.138+12050_138+12057dupCTAACTAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25340777	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02055.hp2 HG02717.hp2 others(2): Show HG01934.hp1 HG02055.hp2 HG02717.hp2 HG03195.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0001c0009 others(2): Show a0001c0001 a0001c0004 a0001c0009 a0002c0007 a0006c0016	a0001c0001t0001 a0001c0004t0009 a0001c0009t0011 others(2): Show a0001c0001t0001 a0001c0004t0009 a0001c0009t0011 a0002c0007t0006 a0006c0016t0001	a0001c0001t0001g0130 a0001c0004t0009g0182 a0001c0009t0011g0031 others(2): Show a0001c0001t0001g0130 a0001c0004t0009g0182 a0001c0009t0011g0031 a0002c0007t0006g0091 a0006c0016t0001g0030	5	186	0.0269	8	c.138 others(27): Show c.138+55888_138+55895dupTTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25406447	G G	GAAAGAAC others(1): Show GAAAGAACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01106.hp1 others(5): Show HG00642.hp1 HG01081.hp1 HG01106.hp1 HG02257.hp2 HG02486.hp2 HG02717.hp1 NA18522.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0001c0004 a0001c0009 others(3): Show a0001c0002 a0001c0004 a0001c0009 a0002c0007 a0005c0019 a0006c0016	a0001c0002t0008 a0001c0004t0006 a0001c0009t0002 others(4): Show a0001c0002t0008 a0001c0004t0006 a0001c0009t0002 a0002c0007t0003 a0002c0007t0006 a0005c0019t0001 a0006c0016t0005	a0001c0002t0008g0026 a0001c0004t0006g0027 a0001c0009t0002g0025 others(5): Show a0001c0002t0008g0026 a0001c0004t0006g0027 a0001c0009t0002g0025 a0002c0007t0003g0024 a0002c0007t0006g0033 a0002c0007t0006g0035 a0005c0019t0001g0034 a0006c0016t0005g0165	8	186	0.0430	8	c.139 others(27): Show c.139-13667_139-13666insAAAGAACA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441320	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0118 a0001c0012t0006g0119 a0001c0012t0006g0120 a0001c0012t0006g0118 a0001c0012t0006g0119 a0001c0012t0006g0120	3	186	0.0161	8	c.371 others(25): Show c.371+5727_371+5734dupATATATAT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441333	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG06807.hp2 NA19240.hp1 HG02572.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0023 a0001c0004t0009 a0001c0001t0001 a0001c0003t0023 a0001c0004t0009	a0001c0001t0001g0020 a0001c0003t0023g0161 a0001c0004t0009g0182 a0001c0001t0001g0020 a0001c0003t0023g0161 a0001c0004t0009g0182	3	186	0.0161	8	c.371 others(25): Show c.371+5730_371+5731insGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(1): Show ATATATATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03195.hp2 HG03669.hp2 others(2): Show HG01934.hp1 HG03195.hp2 HG03669.hp2 HG03710.hp1 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0007 a0002c0005t0003 others(1): Show a0001c0001t0001 a0001c0003t0007 a0002c0005t0003 a0002c0005t0007	a0001c0001t0001g0078 a0001c0001t0001g0130 a0001c0003t0007g0144 others(2): Show a0001c0001t0001g0078 a0001c0001t0001g0130 a0001c0003t0007g0144 a0002c0005t0003g0073 a0002c0005t0007g0151	5	186	0.0269	8	c.371 others(25): Show c.371+5734_371+5735insATATATGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATGT others(1): Show ATATATGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG00642.hp1 HG01081.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0033 a0002c0007t0006g0035 a0002c0007t0006g0033 a0002c0007t0006g0035	2	186	0.0108	8	c.371 others(25): Show c.371+5734_371+5735insATATGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATGTGT others(1): Show ATATGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01433.hp1 HG00544.hp1 HG01433.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0023 a0001c0004 a0003c0023	a0001c0004t0004 a0003c0023t0002 a0001c0004t0004 a0003c0023t0002	a0001c0004t0004g0096 a0003c0023t0002g0072 a0001c0004t0004g0096 a0003c0023t0002g0072	2	186	0.0108	8	c.371 others(25): Show c.371+5734_371+5735insATGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450984	C C	CTCTCCCC others(1): Show CTCTCCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02055.hp2 others(15): Show HG01361.hp2 HG01884.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp2 HG02717.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp1 NA18522.hp1 NA18945.hp1 NA18956.hp2 NA19003.hp2 NA19007.hp2 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0011	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0002c0007 a0002c0013 a0005c0030 a0006c0016 a0011c0036	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0002t0001 a0001c0002t0008 a0001c0004t0006 a0001c0006t0002 a0001c0008t0001 a0002c0007t0003 a0002c0007t0006 a0002c0013t0010 a0005c0030t0005 a0006c0016t0001 a0006c0016t0005 a0011c0036t0001	a0001c0001t0001g0012 a0001c0001t0008g0133 a0001c0001t0012g0179 others(15): Show a0001c0001t0001g0012 a0001c0001t0008g0133 a0001c0001t0012g0179 a0001c0002t0001g0005 a0001c0002t0008g0026 a0001c0004t0006g0027 a0001c0006t0002g0074 a0001c0006t0002g0099 a0001c0006t0002g0106 a0001c0008t0001g0003 a0002c0007t0003g0024 a0002c0007t0006g0091 a0002c0013t0010g0047 a0005c0030t0005g0159 a0006c0016t0001g0030 a0006c0016t0005g0165 a0006c0016t0005g0168 a0011c0036t0001g0001	18	186	0.0968	8	c.614 others(23): Show c.614+273_614+274insTCTCCCCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02738.hp2 NA18943.hp2 others(2): Show HG00621.hp1 HG02738.hp2 NA18943.hp2 NA18948.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0002 a0001c0003t0008 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0008 a0001c0006t0002	a0001c0001t0001g0058 a0001c0003t0002g0041 a0001c0003t0002g0082 others(2): Show a0001c0001t0001g0058 a0001c0003t0002g0041 a0001c0003t0002g0082 a0001c0003t0008g0127 a0001c0006t0002g0117	5	186	0.0269	8	c.615 others(25): Show c.615-6611_615-6604dupCTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25495538	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG01175.hp1 others(2): Show HG00140.hp1 HG00673.hp2 HG01175.hp1 HG02572.hp1 NA18979.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0010 a0001c0001 a0001c0002 a0003c0010	a0001c0001t0003 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0003c0010t0003	a0001c0001t0003g0064 a0001c0002t0003g0060 a0001c0002t0005g0154 others(2): Show a0001c0001t0003g0064 a0001c0002t0003g0060 a0001c0002t0005g0154 a0001c0002t0012g0183 a0003c0010t0003g0104	5	186	0.0269	8	c.132 others(25): Show c.1325+354_1325+361dupGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	16/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25526150	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02818.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02818.hp2 HG03195.hp2 NA18956.hp1 NA19011.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0020 a0001c0001 a0010c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0010c0020t0015	a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0003g0128 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0003g0128 a0001c0001t0005g0136 a0010c0020t0015g0160	5	186	0.0269	8	c.196 others(27): Show c.1969-2606_1969-2599dupATAAATAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25544606	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02145.hp1 HG02818.hp2 others(5): Show HG01175.hp2 HG02145.hp1 HG02818.hp2 HG03130.hp2 HG03209.hp1 HG03516.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0004 a0001c0012 others(4): Show a0001c0001 a0001c0004 a0001c0012 a0002c0007 a0002c0034 a0003c0024 a0010c0020	a0001c0001t0012 a0001c0004t0012 a0001c0004t0018 others(5): Show a0001c0001t0012 a0001c0004t0012 a0001c0004t0018 a0001c0012t0005 a0002c0007t0020 a0002c0034t0011 a0003c0024t0008 a0010c0020t0015	a0001c0001t0012g0179 a0001c0004t0012g0177 a0001c0004t0018g0093 others(5): Show a0001c0001t0012g0179 a0001c0004t0012g0177 a0001c0004t0018g0093 a0001c0012t0005g0156 a0002c0007t0020g0181 a0002c0034t0011g0122 a0003c0024t0008g0019 a0010c0020t0015g0160	8	186	0.0430	8	c.232 others(27): Show c.2328+4561_2328+4568dupACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	26/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25555382	T T	TATTCATT others(1): Show TATTCATTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19043.hp1 HG00735.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0022 a0001c0002t0003 a0001c0002t0022	a0001c0002t0003g0017 a0001c0002t0022g0164 a0001c0002t0003g0017 a0001c0002t0022g0164	2	186	0.0108	8	c.259 others(27): Show c.2593-1289_2593-1282dupTTCATTCA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNMT1_chr9_74975790_75033293	75005827	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02165.hp2 HG02258.hp2 others(2): Show HG01106.hp2 HG02165.hp2 HG02258.hp2 HG03927.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0302 a0001c0001t0002g0309 others(2): Show a0001c0001t0002g0174 a0001c0001t0002g0302 a0001c0001t0002g0309 a0001c0001t0002g0314 a0001c0001t0002g0323	5	366	0.0137	8	c.591 others(25): Show c.591-5965_591-5958dupGTGTGTGT	CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7			chr9	TogoVar
CARNS1_chr11_67410678_67430604	67424861	C C	CCACACAC others(1): Show CCACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp2 HG02809.hp1 NA19030.hp2 others(1): Show HG01943.hp2 HG02809.hp1 NA19030.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0024 a0001c0003t0043 a0002c0002t0029 a0001c0003t0024 a0001c0003t0043 a0002c0002t0029	a0001c0003t0024g0048 a0001c0003t0024g0079 a0001c0003t0043g0041 others(1): Show a0001c0003t0024g0048 a0001c0003t0024g0079 a0001c0003t0043g0041 a0002c0002t0029g0004	4	346	0.0116	8	c.28 others(17): Show c.284_*291dupACACACAC	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10	292	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(1): Show TTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03209.hp2 HG03516.hp1 HG02622.hp1 HG03209.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0202 a0001c0001t0001g0015 a0001c0001t0001g0202	3	321	0.0094	8	c.802 others(25): Show c.802-2554_802-2553insGGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3032060	C C	CTCCCTCC others(1): Show CTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01109.hp2 HG00639.hp1 HG00735.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	321	0.0094	8	c.802 others(25): Show c.802-2618_802-2617insAGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110657199	A A	AAATTTTA others(1): Show AAATTTTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00609.hp1 others(141): Show HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18967.hp1 NA18969.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0011 a0016	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0019 a0001c0020 a0002c0004 a0002c0008 a0003c0011 a0004c0012 a0006c0015 a0007c0014 a0010c0018 a0011c0017 a0016c0021	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(18): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0001c0019t0001 a0001c0020t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0008t0001 a0003c0011t0002 a0004c0012t0002 a0004c0012t0004 a0006c0015t0002 a0007c0014t0002 a0010c0018t0002 a0011c0017t0002 a0016c0021t0001	a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 others(132): Show a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0072 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0224 a0001c0002t0001g0233 a0001c0002t0001g0265 a0001c0002t0002g0017 a0001c0002t0002g0020 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0248 a0001c0002t0002g0254 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0003t0001g0240 a0001c0003t0002g0066 a0001c0003t0002g0304 a0001c0003t0002g0305 a0001c0003t0002g0309 a0001c0003t0002g0312 a0001c0003t0002g0314 a0001c0003t0002g0316 a0001c0003t0002g0319 a0001c0003t0002g0320 a0001c0007t0001g0192 a0001c0019t0001g0208 a0001c0020t0002g0303 a0002c0004t0001g0007 a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0032 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0004t0002g0043 a0002c0004t0002g0058 a0002c0004t0002g0241 a0002c0004t0003g0239 a0002c0004t0003g0302 a0002c0008t0001g0034 a0003c0011t0002g0243 a0003c0011t0002g0255 a0003c0011t0002g0256 a0004c0012t0002g0263 a0004c0012t0002g0264 a0004c0012t0004g0262 a0006c0015t0002g0064 a0006c0015t0002g0065 a0007c0014t0002g0252 a0007c0014t0002g0253 a0010c0018t0002g0266 a0011c0017t0002g0267 a0016c0021t0001g0206	144	372	0.3871	8	c.988 others(25): Show c.988-6107_988-6100dupATAAAATT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	9/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679650	C C	CGGAGGGA others(1): Show CGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01361.hp2 others(17): Show HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01928.hp1 HG01975.hp1 HG02300.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG03041.hp1 HG03239.hp2 HG03492.hp2 HG04199.hp1 HG04228.hp1 NA18950.hp1 NA19057.hp2 NA19086.hp1 NA20129.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0001c0003 a0005c0010 others(1): Show a0001c0001 a0001c0003 a0005c0010 a0009c0016	a0001c0001t0001 a0001c0003t0001 a0005c0010t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0005c0010t0001 a0009c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0069 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0218 a0001c0001t0001g0257 a0001c0003t0001g0240 a0005c0010t0001g0101 a0005c0010t0001g0107 a0009c0016t0001g0024	20	372	0.0538	8	c.656 others(25): Show c.656-2555_656-2548dupCTCCCTCC	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CARTPT_chr5_71714275_71726045	71721292	T T	TGTGTGTG others(1): Show TGTGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02818.hp1 others(5): Show HG02559.hp1 HG02615.hp1 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009	8	474	0.0169	8	c.67 others(17): Show c.677_*678insGTGTGTGA	CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding		248		chr5	TogoVar
CASC3_chr17_40135537_40177171	40140317	A A	AACACACA others(1): Show AACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02015.hp2 HG02451.hp2 others(3): Show HG01433.hp2 HG02015.hp2 HG02451.hp2 HG02818.hp1 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0053 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0053 a0001c0001t0001g0075 a0001c0001t0001g0106 a0001c0001t0001g0227 a0001c0001t0002g0018	6	266	0.0226	8	c.-23 others(17): Show c.-232_-231insACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		219		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140385	C C	CACACCCC others(1): Show CACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02071.hp2 NA18906.hp1 others(1): Show HG01192.hp1 HG02071.hp2 NA18906.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0105	4	266	0.0150	8	c.-16 others(17): Show c.-164_-163insACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		151		chr17	TogoVar
CASD1_chr7_94504809_94562019	94553786	T T	TTAAATAA others(1): Show TTAAATAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00673.hp2 others(86): Show HG00544.hp2 HG00558.hp1 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03098.hp2 HG03239.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA18987.hp2 NA18988.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19078.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0004 a0003c0011 others(1): Show a0001c0001 a0002c0004 a0003c0011 a0004c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0002c0004t0001 a0003c0011t0001 a0004c0010t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0004g0223 a0001c0001t0007g0161 a0001c0001t0010g0054 a0001c0001t0011g0123 a0002c0004t0001g0001 a0002c0004t0001g0091 a0002c0004t0001g0098 a0002c0004t0001g0102 a0003c0011t0001g0119 a0004c0010t0006g0218	89	398	0.2236	8	c.203 others(25): Show c.2035-672_2035-665dupTAAATAAA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASD1_chr7_94504809_94562019	94553815	T T	TAAATAAA others(1): Show TAAATAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02258.hp2 others(15): Show HG01884.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0039 others(6): Show a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0039 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227	18	398	0.0452	8	c.203 others(25): Show c.2035-665_2035-664insTAAAAAAA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASD1_chr7_94504809_94562019	94559276	C C	CTGTGTGT others(1): Show CTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00639.hp1 others(76): Show HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG01123.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02738.hp1 HG02818.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19012.hp1 NA19054.hp2 NA19062.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0028 others(57): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0002g0003 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0192 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0004g0009 a0001c0001t0004g0227 a0001c0001t0008g0236 a0001c0001t0008g0239 a0001c0003t0001g0031 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171	79	398	0.1985	8	c.35 others(19): Show c.3518_*3519insTGTGTGTG	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2258		chr7	TogoVar
CASK_chrX_41509934_41928554	41710081	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG00738.hp1 others(22): Show HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01928.hp1 HG01943.hp1 HG02015.hp1 HG02258.hp1 HG02602.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG06807.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18983.hp1 NA19055.hp1 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0005t0001	a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0041 others(22): Show a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0140 a0001c0001t0003g0075 a0001c0001t0003g0142 a0001c0001t0005g0063 a0001c0001t0005g0065 a0001c0001t0011g0045 a0001c0001t0013g0110 a0001c0005t0001g0066	25	164	0.1524	8	c.429 others(27): Show c.429+29295_429+29302dupCACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41749376	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0003 a0001c0001t0024g0003	1	164	0.0061	8	c.279 others(25): Show c.279-3783_279-3776dupAAAAAAAA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41770257	C C	CATCTATC others(1): Show CATCTATCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01258.hp1 others(5): Show HG01167.hp1 HG01169.hp1 HG01258.hp1 HG03942.hp1 NA18960.hp1 NA18970.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0001 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0058 a0001c0001t0001g0092 a0001c0001t0001g0093 others(5): Show a0001c0001t0001g0058 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0149 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0010g0057	8	164	0.0488	8	c.278 others(27): Show c.278+16913_278+16920dupAGATAGAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar

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