Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPON1_chr11_13957723_14273133	14252291	CTGCCTCA others(158): Show CTGCCTCAGCCGAAGGCAAGACCTGCGCAGAGTGTGGGAATCCAGCGCTA TGTATCTGCCTCAGCCGAAGGCAAGACCTGCGCAGAGTGTGGGAATCCAG CGCTATGTATCTGCCTCAGCCGAAGGCAAGACCTGCGCAGAGTGTGGGAA TCCAGCGCTATGTACT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp2 HG03209.hp1 HG02572.hp2 HG02970.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0015 a0001c0002t0003g0215 a0001c0002t0003g0224 a0001c0002t0001g0015 a0001c0002t0003g0215 a0001c0002t0003g0224	3	224	0.0134	-165	c.891 others(17): Show c.891-2183_891-2019del		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
STOX2_chr4_183900307_184028526	183932330	ACATACAG others(158): Show ACATACAGTATATGTATGTATACATACAGTATATGTATGTATACATACAG TATATGTATGTATACATACAGTATATGTATGTATACATACAGTATATGTA TGTATACATACAGTATATGTATGTATACATACAGTATATGTATGTATACA TACAGTATATGTATGT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG01081.hp2 others(67): Show HG00621.hp1 HG00733.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG02027.hp1 HG02109.hp1 HG02132.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA18968.hp1 NA19010.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19068.hp2 NA19070.hp1 NA19081.hp1 NA19083.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0002c0003 a0003c0006 a0005c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(41): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0028 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0064 a0001c0001t0065 a0001c0001t0075 a0001c0001t0101 a0001c0001t0108 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0017 a0001c0002t0019 a0001c0002t0032 a0001c0002t0040 a0001c0002t0052 a0001c0002t0053 a0001c0002t0060 a0001c0002t0087 a0001c0002t0093 a0001c0002t0096 a0001c0004t0009 a0001c0004t0036 a0001c0004t0046 a0001c0004t0063 a0001c0004t0099 a0001c0005t0005 a0001c0005t0089 a0001c0005t0105 a0001c0010t0002 a0002c0003t0024 a0002c0003t0069 a0002c0003t0072 a0003c0006t0081 a0005c0011t0100	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0062 others(67): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0158 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0004g0146 a0001c0001t0004g0190 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0303 a0001c0001t0008g0152 a0001c0001t0008g0178 a0001c0001t0008g0179 a0001c0001t0008g0230 a0001c0001t0010g0003 a0001c0001t0010g0234 a0001c0001t0015g0056 a0001c0001t0015g0138 a0001c0001t0016g0095 a0001c0001t0025g0094 a0001c0001t0028g0227 a0001c0001t0055g0276 a0001c0001t0056g0240 a0001c0001t0057g0203 a0001c0001t0064g0191 a0001c0001t0065g0302 a0001c0001t0075g0153 a0001c0001t0101g0147 a0001c0001t0108g0291 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0002t0003g0113 a0001c0002t0003g0128 a0001c0002t0003g0210 a0001c0002t0003g0212 a0001c0002t0003g0245 a0001c0002t0003g0272 a0001c0002t0005g0082 a0001c0002t0012g0007 a0001c0002t0017g0110 a0001c0002t0019g0002 a0001c0002t0032g0312 a0001c0002t0040g0050 a0001c0002t0052g0017 a0001c0002t0053g0282 a0001c0002t0060g0169 a0001c0002t0087g0286 a0001c0002t0093g0267 a0001c0002t0096g0122 a0001c0004t0009g0171 a0001c0004t0009g0243 a0001c0004t0009g0280 a0001c0004t0009g0309 a0001c0004t0036g0314 a0001c0004t0046g0301 a0001c0004t0063g0249 a0001c0004t0099g0228 a0001c0005t0005g0229 a0001c0005t0089g0233 a0001c0005t0105g0316 a0001c0010t0002g0287 a0002c0003t0024g0154 a0002c0003t0069g0281 a0002c0003t0072g0043 a0003c0006t0081g0217 a0005c0011t0100g0232	70	318	0.2201	-165	c.166 others(19): Show c.166+25375_166+25539del		STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3						chr4	TogoVar
SUPT20HL2_chrX_24303210_24319069	24313713	ACGTCTCT others(158): Show ACGTCTCTGCGGCCTGGAACAGAAGTGAGCGGGAGGGCCGTGGTCAGCTT CTAGGCGCGTCTGGGCACCTGCCCAGAAACCTGCCCCCAGGGAAGCGCTA CCCAATCTGTTTGAGGGTTTCTGAAAACATCGGTACCTGAGGGGTCGTCG TCGTGGTCGGACTTCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02602.hp1 HG03239.hp2 HG02602.hp1 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0070 a0001c0002t0069 a0001c0002t0070	a0001c0002t0069g0000 a0001c0002t0070g0000 a0001c0002t0069g0000 a0001c0002t0070g0000	2	293	0.0068	-165	c.-56 others(9): Show c.-563_-399del		SUPT20HL2	ENSG00000223611.7	transcript	ENST00000486479.3	protein_coding	1/1				399		chrX	TogoVar
TMEM132D_chr12_129066726_129909025	129388933	AACACCAA others(158): Show AACACCAATCCAGCACTGATGATAATATTAACACCAACACTCATCCTAAT ATAAACACTAACAGCAACACCGATACTAACACCAACACCAATCCAGCACG ATAATAATATTAACACTAACATGAATCCTAATATAAACACTAACACCGAC ACCAATGCTAACACCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp1 HG02109.hp1 others(3): Show HG00099.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0004 a0001c0004t0008	a0001c0001t0001g0012 a0001c0001t0002g0038 a0001c0001t0003g0020 others(3): Show a0001c0001t0001g0012 a0001c0001t0002g0038 a0001c0001t0003g0020 a0001c0001t0010g0034 a0001c0002t0004g0023 a0001c0004t0008g0089	6	94	0.0638	-165	c.111 others(21): Show c.1116-51281_1116-51117del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8						chr12	TogoVar
TMTC4_chr13_100598625_100679795	100607526	AAAAAAAT others(158): Show AAAAAAATCGGTATCACACATTGAGCTTAACCAAACAAATTTGTTGGTGT GGGGATAGTTTTTGTGCCTTCTACCTGGGTCATACATGAATTTTTTCCAG GTGGGCTTCCCATATCTGTGACTGTGCATTTTATAATGTGCAAGACCACC AGTTCCTTTGCCCTGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp2 HG03225.hp2 HG02257.hp1 HG02886.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0001 a0001c0004t0013 a0001c0017t0001 a0001c0004t0001 a0001c0004t0013 a0001c0017t0001	a0001c0004t0001g0220 a0001c0004t0013g0221 a0001c0017t0001g0216 a0001c0004t0001g0220 a0001c0004t0013g0221 a0001c0017t0001g0216	3	346	0.0087	-165	c.206 others(19): Show c.2065-1264_2065-1100del		TMTC4	ENSG00000125247.16	transcript	ENST00000342624.10	protein_coding	17/18						chr13	TogoVar
TOP1MT_chr8_143304324_143339880	143323544	CCACACAC others(158): Show CCACACACGCACGCCACACACATGCACGCCACACACACAGGCACGCCACA CACACACGCACGCCACACACACAGGCACGCCACACACGCACGCCACACGC ACGCCACACACATGCTCACCACACACGCACGCCACACACATGCACGCCAC ACACACAGGCACACCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(60): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00733.hp2 HG01071.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02165.hp2 HG02273.hp2 HG02735.hp1 HG03239.hp1 HG03654.hp1 HG03942.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18961.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18988.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA20752.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0008 a0008c0011 a0001c0001 a0001c0008 a0008c0011	a0001c0001t0001 a0001c0008t0001 a0008c0011t0001 a0001c0001t0001 a0001c0008t0001 a0008c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(56): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0102 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0008t0001g0105 a0001c0008t0001g0365 a0008c0011t0001g0352	63	430	0.1465	-165	c.960 others(15): Show c.960+290_960+454del		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13						chr8	TogoVar
TPGS1_chr19_502497_524654	518143	AGCTGGGA others(158): Show AGCTGGGAGGAGGGAGGCCCAGGCTGGGAGTGCTGGTGGGGTGGGGAGGG GAGGCCCAGGTTGAGTAGGGGCTGGGAAGAGGGAGGCCCCGGCTGGGTAG GGGCTGGGAGGAGGGAGGCCAGGCTGGGTGGGAGCTGGGAGGAGGGGAGG TCCAGGCTGGGTAGGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp2 HG03195.hp1 HG02257.hp2 HG03139.hp2 HG03195.hp1	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0000c0003 a0001c0001	a0000c0003t0004 a0001c0001t0004 a0000c0003t0004 a0001c0001t0004	a0000c0003t0004g0199 a0001c0001t0004g0034 a0000c0003t0004g0199 a0001c0001t0004g0034	3	344	0.0087	-165	c.339 others(15): Show c.339-657_339-493del		TPGS1	ENSG00000141933.9	transcript	ENST00000359315.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
TPO_chr2_1408463_1548673	1529443	TCCCCCCA others(158): Show TCCCCCCACTGTGTGCAATCTCCCCATATCCCCCCACTGTGAGCAACCTC CCCAAATCCCACTTGTTGCAACCTCCCCAAATCCCCCCACTGTGAGCAAT CTCCCCAAATGCCCCACCGTGTGCAACCTCCTCAAATCCCCCACCACTCA GAGCAACCTTCTCAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0017 a0004c0005t0003g0017	1	130	0.0077	-165	c.261 others(21): Show c.2619-11150_2619-10986del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16						chr2	TogoVar
TRIML1_chr4_188134441_188152743	188151977	TGAGAAGG others(158): Show TGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGGGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 NA19081.hp1 HG00741.hp2 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0002	a0001c0001t0001g0049 a0003c0005t0002g0106 a0001c0001t0001g0049 a0003c0005t0002g0106	2	228	0.0088	-165	c.46 others(11): Show c.4606_*4770del		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4235		chr4	TogoVar
TRPM2_chr21_44348621_44447644	44396131	GTGTGGAG others(158): Show GTGTGGAGGCTGTGGAGGGGTGTGGAGGCTGTGGAGGGGTGTGGAGGCTG TGGAGGGGTGTGGAGGCTGTGGAGGGGTGTGGAGGCTGTGGAGGGGTGTG GAGGGGTGTGGAGGGCTGTGGAGGGGTGTGGAGGGGTGTGGAGGGCTGTG GAGGGATGTGGAGGGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0008 a0008c0009t0008	a0008c0009t0008g0043 a0008c0009t0008g0043	1	44	0.0227	-165	c.193 others(17): Show c.1932+608_1932+772del		TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31					INFO_REALIGN_3_PRIME	chr21	TogoVar
TYMS_chr18_652653_678578	667346	AGATGGTG others(158): Show AGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAG ATGGTGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGTGATGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGA TGGAGATGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0344 a0001c0001t0005g0344	1	482	0.0021	-165	c.455 others(17): Show c.455-1684_455-1520del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
ZFAND3_chr6_37814727_38159624	38103346	ATGTATAT others(158): Show ATGTATATATATATATATATATACACACAATATATATATACACACACACA TATATATACACACACACGTATATACACACACATATATATACACGTGTATA TATATACACACATATATACACGTGTATATATATACACACATATATACACG TGTATATATATACACG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	318	0.0031	-165	c.362 others(19): Show c.362-13215_362-13051del		ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
ZNF573_chr19_37733302_37784586	37751069	TATATATA others(158): Show TATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATA TATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGC ATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATAT ATACAGTATAGACAGC	T T	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0148 a0002c0002t0002g0148	1	350	0.0029	-165	c.296 others(19): Show c.296-11040_296-10876del		ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4						chr19	TogoVar
ZNF611_chr19_52697813_52740044	52731843	TGCCTGTA others(158): Show TGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGTAGAATCGCTTGAT GCTAGGAAGCCAAGGTTGTGGTGAGCTGAGATCATGCCATCGCACTCCAG CCTTGGCAACAAGAGCAAAATTCCCTCTCAAAAAAAGAAAAAAAAATGGC CGGGCGGGTGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp1 HG01243.hp1 HG01516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0015 a0002c0004t0015	a0002c0004t0015g0059 a0002c0004t0015g0060 a0002c0004t0015g0059 a0002c0004t0015g0060	2	408	0.0049	-165	c.-22 others(19): Show c.-221-2003_-221-1839del		ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	1/5						chr19	TogoVar
ZNF814_chr19_57864381_57894037	57874336	AATGTTTT others(158): Show AATGTTTTTTTTCAGTGTGAACTCTCTGATGATTACTGAAGCTAGCATAT TTGCTAAACGATTTCCCACATTCTCCACATTCATAAGGTCTTTTCCCAGT GTGAACTCTCTGATGATTACTGAAGCTAACATATTTGCTAAAGGATTTCC CACATTCTCCACATTC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01496.hp1 HG02132.hp2 HG02970.hp2 others(1): Show HG01496.hp1 HG02132.hp2 HG02970.hp2 NA18906.hp2	a0005 a0006 a0005 a0006	a0005c0010 a0006c0009 a0005c0010 a0006c0009	a0005c0010t0034 a0005c0010t0035 a0006c0009t0003 a0005c0010t0034 a0005c0010t0035 a0006c0009t0003	a0005c0010t0034g0081 a0005c0010t0035g0082 a0006c0009t0003g0131 others(1): Show a0005c0010t0034g0081 a0005c0010t0035g0082 a0006c0009t0003g0131 a0006c0009t0003g0141	4	434	0.0092	-165	c.889 others(8): Show c.889_1053del	p.Glu others(13): Show p.Glu297_His351del	ZNF814	ENSG00000204514.11	transcript	ENST00000435989.7	protein_coding	3/3	1288/6244	889/2568	297/855			chr19	TogoVar
ZNF92_chr7_65368855_65406136	65395878	AATGGATC others(158): Show AATGGATCTCTTTTAGGCAGTATATTGTATGCTTTCTTATTTATTTATTT TTGAGATAGGGTCTCACTCTGTCAACCAGGCTGGTTTGCAGTGGTGTGAT CATGGCAATGAGCTGCAGCCTCAACCTCCCAAACTCAGATGATCTTCTCA TTTCAGCCTGTCAAGT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	410	0.0024	-165	c.227 others(17): Show c.227-2461_227-2297del		ZNF92	ENSG00000146757.14	transcript	ENST00000328747.12	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
ACAP2_chr3_195269745_195448020	195272776	TCTGTCTC others(157): Show TCTGTCTCAAAAAAAAAAAAAAAGTAGGCAGTGTGGTGGCGGACACCTGC AATTCCAGCTACTCGAGAGGCTGAGGCAAGAGAATCGCTTGAACCTAGGA GGCAGAGGATGCAGTGAGCCGAGATCATAACACTGCACTCCAGCCTGGGC GACAAGAGCAAAACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02717.hp1 HG02896.hp2 others(2): Show HG02647.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0002 a0001c0001t0007 a0001c0004t0002	a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0004t0002g0103 others(2): Show a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0004t0002g0103 a0001c0004t0002g0104 a0001c0004t0002g0105	5	324	0.0154	-164	c.63 others(11): Show c.6388_*6551del		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding					1968		chr3	TogoVar
ACAP3_chr1_1287391_1312930	1289507	TCCCCCGT others(157): Show TCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	295	0.0034	-164	c.38 others(11): Show c.3893_*4056del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2883		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179313180	AAGAGGGG others(157): Show AAGAGGGGACGCACACGCATTCACACTCATGCACACACACACACCGAGAC AGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACACGC ATTCACACTCATGCACACACTCACACCGAGACAGAGGAGGGCCTGGCCAG AGCAGGGGTGTCAGC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0029 a0029	a0029c0104 a0029c0104	a0029c0104t0027 a0029c0104t0027	a0029c0104t0027g0221 a0029c0104t0027g0221	1	276	0.0036	-164	c.534 others(19): Show c.534+30423_534+30586del		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADGRD1_chr12_130948907_131146469	131019822	GGAGATAT others(157): Show GGAGATATTCCAGGGGCAGGACCCCGAGCTCCGTCCAGGGCAGGGGGTGC TCGAGAGAGATATTCCAGGGGCAGGACCCTGAGCTCCATCAAGGGCAGGG GGTGCTCGAGGGAGATGTTCCAGGGAAGGACCCCGAGCTCCGTCCAGGGC AGGGGGTGCTCGAGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0147 a0001c0001t0016g0147	1	242	0.0041	-164	c.147 others(19): Show c.1473+5506_1473+5669del		ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr12	TogoVar
AGPAT2_chr9_136668143_136692457	136675321	GGGCCAGC others(157): Show GGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGGGGCCAGCA GGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTG GGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGC AGCAGGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00735.hp2 others(24): Show HG00408.hp1 HG00609.hp2 HG00735.hp2 HG01081.hp1 HG01109.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp2 HG02004.hp2 HG02135.hp1 HG02970.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18944.hp2 NA18980.hp2 NA18993.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0214 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0002g0028 a0001c0001t0002g0071 a0001c0001t0002g0255 a0001c0001t0003g0238 a0001c0001t0013g0138 a0001c0001t0013g0194	27	374	0.0722	-164	c.589 others(15): Show c.589-678_589-515del		AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5						chr9	TogoVar
ARHGAP39_chr8_144524179_144690846	144634144	AGAACTCC others(157): Show AGAACTCCAGGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCA GGCCTCTGCAGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGC AGGCGCAGTCTCCACTCCTGTCTGGAACTCCAGGCCTCTGCAGGCGCAGT CTCCACTCCTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02004.hp1 HG02080.hp1 others(30): Show HG01192.hp2 HG02004.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp1 HG02630.hp1 HG02723.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 NA18522.hp1 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18963.hp2 NA18969.hp1 NA18971.hp1 NA18979.hp2 NA18980.hp2 NA18995.hp1 NA18999.hp1 NA19012.hp2 NA19074.hp1 NA19087.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0003c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0012t0002 a0003c0011t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(30): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0003g0023 a0001c0001t0007g0168 a0001c0001t0011g0046 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0169 a0001c0003t0001g0110 a0001c0012t0002g0128 a0003c0011t0001g0072	33	246	0.1342	-164	c.-81 others(19): Show c.-81-28613_-81-28450del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11						chr8	TogoVar
ARHGAP8_chr22_44747575_44867784	44800562	CGCCCCTC others(157): Show CGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCT GTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGC GCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCTG TCCGTGTGAGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp2 HG02615.hp2 HG01934.hp1 HG02109.hp2 HG02615.hp2	a0001 a0011 a0001 a0011	a0001c0007 a0011c0035 a0001c0007 a0011c0035	a0001c0007t0001 a0011c0035t0001 a0001c0007t0001 a0011c0035t0001	a0001c0007t0001g0058 a0011c0035t0001g0001 a0011c0035t0001g0045 a0001c0007t0001g0058 a0011c0035t0001g0001 a0011c0035t0001g0045	3	390	0.0077	-164	c.80- others(15): Show c.80-1511_80-1348del		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ASAP2_chr2_9201812_9410678	9406007	CAGTCTTC others(157): Show CAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0065 a0001c0003t0006g0065	1	210	0.0048	-164	c.26 others(11): Show c.2681_*2844del		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					330		chr2	TogoVar
ATG5_chr6_106179476_106330760	106285965	TATGTAGC others(157): Show TATGTAGCCAGATGTCTCTCCACTTTGAATGAGCTGGAATCCAACATTTC CCAGCATCATAAGACGTTCAGTATCTTTTGTCCACTCTTAACCCTACAAC ATCCACTATCTACTAGACCTTGCAGAGTATCAGCTATGCATGTGCAACCC AGGCCTCAGCCAAGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02145.hp1 HG02257.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0008	a0003c0005t0008g0067 a0003c0005t0008g0068 a0003c0005t0008g0067 a0003c0005t0008g0068	2	358	0.0056	-164	c.316 others(17): Show c.316-6306_316-6143del		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	4/7						chr6	TogoVar
ATP6V0E2_chr7_149868969_149885695	149878839	CTTTCCCA others(157): Show CTTTCCCACACCCAGGGCAGGCCTCGGTCATATTATTTTGGATGCGGCCA ACCCAGCAGATGGCAGGGCCTGTGTTCCCAGGGTGACGAAGGGCCCAGGG AGCCATCCACACTCCGGCAGGCACATGGGGTTGGTATGGCACTTCTGGGT TTGGTTTTGATTTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(238): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 others(46): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0051 a0001c0001t0004g0005 a0001c0001t0004g0022 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0005g0006 a0001c0001t0005g0053 a0001c0001t0007g0007 a0001c0001t0007g0024 a0001c0001t0008g0002 a0001c0001t0009g0003 a0001c0001t0010g0008 a0001c0001t0010g0050 a0001c0001t0011g0008 a0001c0001t0011g0016 a0001c0001t0012g0023 a0001c0001t0012g0047 a0001c0001t0013g0017 a0001c0001t0014g0002 a0001c0001t0015g0018 a0001c0001t0016g0013 a0001c0001t0017g0009 a0001c0001t0018g0032 a0001c0001t0018g0049 a0001c0001t0021g0004 a0001c0001t0022g0054 a0001c0001t0023g0052 a0001c0001t0025g0033 a0001c0001t0026g0003 a0001c0001t0028g0003 a0001c0001t0031g0002 a0001c0001t0032g0003 a0002c0002t0002g0002	241	438	0.5502	-164	c.19 others(14): Show c.19+53_*19+216del		ATP6V0E2	ENSG00000171130.19	transcript	ENST00000425642.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
BTBD1_chr15_83011423_83072252	83058899	CTAAAGAT others(157): Show CTAAAGATTAAAAGGACGGTGGGAAGTACACTCCAGGAACAAGAGAGAAT CAAGTTTGTAGATTATTTTGTGTGAGATCTCCCATTCAAATTGCTTTTAT CAAATTATACTTCAGTAATATACTTTTGCTTTCTATCAAGGAACATTTTT TAAAACAAGTATGTA	C C	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	328	0.0031	-164	c.402 others(17): Show c.402-2518_402-2355del		BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	1/7						chr15	TogoVar
C11orf21_chr11_2290628_2306918	2292152	TCAGCACC others(157): Show TCAGCACCCCCAAAAACAACTCCCCGCTTTAGTATATTCACAGAGGCGTG CCACCCGCAGCACCCCCAAAAACAACTCCCCGCTTTAGTATATTCAGAGG CGTGCCACCCGCAGCACCCCCAAAAACAACTCCCCGCTTTAGTATATTCA GAGGCGTGCCACCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0088 a0002c0002t0031g0088	1	426	0.0024	-164	c.56 others(11): Show c.5634_*5797del		C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding					3475		chr11	TogoVar
C18orf63_chr18_74310839_74364189	74344355	CTACTGAG others(157): Show CTACTGAGTTTGTCTCCTCTGCATTTTTAAAATCTATTCTTATGGTGACA TATGACACACATATAGAAAAGTAATACTGTATAGCTTAATGAATATCAAA CGTCCATGTAACTATCACACAGATGAAACATAGAACCTTGCCAGGACTTA GGAGCCTCCTACTTA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0109 a0001c0001t0037g0109	1	372	0.0027	-164	c.978 others(15): Show c.978+654_978+817del		C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding	11/13						chr18	TogoVar
C7orf50_chr7_992006_1143247	1117393	CCCACGCA others(157): Show CCCACGCAGGATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACAG ACGCCCACGCAGGATGATGACATCACTGCAGTTCTACGGACCGGCTTCCA TCACCGACATCCACGCAGGATGATGACATCACTACAGCTCTAGGACCGGC TTCCATCACCAATGT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03453.hp2 HG03490.hp2 others(3): Show HG01358.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG04228.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0008 a0007c0005t0008 a0001c0001t0008 a0007c0005t0008	a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0008g0169 others(3): Show a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0171 a0007c0005t0008g0167	6	326	0.0184	-164	c.129 others(17): Show c.129+9700_129+9863del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227386	GGGGGACA others(157): Show GGGGGACAGAGGGAGAGTCTGGGGGACAGAGGGGGTGTGGGGGACAGGAG GGGGTGTGGAAGACAGAGGAAGTGTGGGGGACAGAAGGGGGTATGGGGGG CAGGGGGTGGAGGACAGAGGAGGGTGTGGGGGACAGAGGGGGATATGGGG GACAGAGGGAGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00544.hp1 others(28): Show HG00140.hp2 HG00438.hp1 HG00544.hp1 HG01070.hp1 HG01071.hp1 HG01258.hp1 HG01361.hp1 HG02056.hp1 HG02135.hp2 HG02615.hp1 HG02683.hp2 HG02818.hp1 HG02886.hp1 HG03209.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18906.hp2 NA18942.hp2 NA18977.hp1 NA18979.hp1 NA18995.hp2 NA19007.hp1 NA19043.hp1 NA19056.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005 a0002c0009 a0002c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0030 a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0006t0003 a0002c0005t0003 a0002c0005t0004 a0002c0005t0008 a0002c0005t0010 a0002c0009t0004 a0002c0011t0004	a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0156 others(27): Show a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0156 a0001c0001t0003g0097 a0001c0001t0004g0018 a0001c0001t0004g0040 a0001c0001t0004g0093 a0001c0001t0005g0129 a0001c0001t0005g0131 a0001c0001t0005g0159 a0001c0001t0005g0169 a0001c0001t0015g0004 a0001c0001t0030g0084 a0001c0002t0001g0111 a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0004g0180 a0001c0006t0003g0183 a0002c0005t0003g0205 a0002c0005t0003g0236 a0002c0005t0003g0237 a0002c0005t0004g0170 a0002c0005t0004g0171 a0002c0005t0004g0174 a0002c0005t0004g0182 a0002c0005t0008g0036 a0002c0005t0010g0135 a0002c0009t0004g0045 a0002c0009t0004g0070 a0002c0011t0004g0142	31	242	0.1281	-164	c.146 others(17): Show c.1469-906_1469-743del		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar
CARMIL1_chr6_25274374_25625530	25363095	CTCAGGTA others(157): Show CTCAGGTAGTGAGTACCTGACCAATGTAGAATGACTTTTAAAATTCCAGA CTTGGGAGCATTTCTCAGGATGCCAGTAGGTATTAAAAATTATTTTTGAC CAAGTAAATTTGGAGAAAGATGGGTTAAGTGAAGTTGGATAGGGATTTTC TTTTTTATCGGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0079 a0001c0004t0002g0079	1	186	0.0054	-164	c.139 others(19): Show c.139-57016_139-56853del		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CCNY_chr10_35331509_35577667	35549739	CCATGACC others(157): Show CCATGACCCTACAGTGCTCGTGACCCTGCGCTGCTCATGACACATGACCC TACAGTGCTCGTGACCCTGCGCTGCTCATGGCCCATGACCCTACACTGCT CGTGACCCTGCGCTGCTCATGACACATGACCCTACAGTGCTCGTGACCCT GCGCTGCTCATGACA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(166): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18999.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp1 NA19091.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023 a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0005t0003 a0001c0006t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0266 others(166): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0283 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0006g0006 a0001c0001t0006g0103 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0284 a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0293 a0001c0001t0007g0294 a0001c0001t0007g0295 a0001c0001t0010g0002 a0001c0001t0010g0007 a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0015g0024 a0001c0001t0019g0019 a0001c0001t0023g0005 a0001c0002t0001g0052 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0270 a0001c0002t0001g0273 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0296 a0001c0002t0003g0051 a0001c0002t0003g0161 a0001c0002t0003g0163 a0001c0002t0003g0176 a0001c0002t0003g0182 a0001c0002t0003g0192 a0001c0002t0003g0198 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0260 a0001c0002t0013g0159 a0001c0002t0013g0268 a0001c0005t0003g0205 a0001c0006t0001g0166	169	296	0.5710	-164	c.580 others(17): Show c.580-3180_580-3017del		CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
CDCP1_chr3_45077277_45151378	45108767	ATATGCAT others(157): Show ATATGCATGTATACATATATATGCATGTATATATATATATGCATGTATAC ATATATATGCATGTATATATATATATGCATGTATACATATATATGCATGT ATATATATATATGCATGTATACATATATATATATATGCATGTATACATAT ATATATATATGCATG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18988.hp1 NA18995.hp2 others(2): Show HG00673.hp2 NA18988.hp1 NA18995.hp2 NA19005.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0008t0005 a0002c0002t0002 a0001c0001t0001 a0001c0008t0005 a0002c0002t0002	a0001c0001t0001g0132 a0001c0001t0001g0280 a0001c0001t0001g0344 others(2): Show a0001c0001t0001g0132 a0001c0001t0001g0280 a0001c0001t0001g0344 a0001c0008t0005g0214 a0002c0002t0002g0294	5	384	0.0130	-164	c.102 others(19): Show c.1024+1542_1024+1705del		CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8						chr3	TogoVar
CDH12_chr5_21745673_22858344	22314955	TTTTTTTT others(157): Show TTTTTTTTTTTTTTTTTGAGATGGAGTATCCCTCTGTCACCCAGGCTGGA GTGCAGTGGCGCGATCTAGGCTCACTGCAAGCTCCGCCTCCCAGGTTCAT GCCATTCTCCTGCCTCCTGCCTCAGTAGCCAGGACTACAGGCGCCTGCCA CCGTGCCTGCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0045 a0001c0001t0016g0045	1	60	0.0167	-164	c.-33 others(21): Show c.-333+90138_-333+90301del		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14						chr5	TogoVar
CDKN2A_chr9_21962752_21999392	21981003	CGTGTATA others(157): Show CGTGTATATATATATATACGTGTATATATATATACGTGTATATATATATA TACGTGTATATATATATACGTGTATATATATATATACGTGTATATATATA CGTGTATATATATATATACGTGTATATATATATATACGTGTATATATATA TATACGTGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03209.hp2 HG01433.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0176 a0001c0001t0001g0177	2	404	0.0050	-164	c.194 others(17): Show c.194-9959_194-9796del		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CEL_chr9_133056981_133076861	133071436	CCCCCCCC others(157): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCC ACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCC CCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCA CGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG02896.hp1 HG02896.hp1	a0066 a0066	a0066c0046 a0066c0046	a0066c0046t0001 a0066c0046t0001	a0066c0046t0001g0022 a0066c0046t0001g0022	1	416	0.0024	-164	c.194 others(9): Show c.1942_2105del	p.Val others(5): Show p.Val648fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1964/2381	1942/2262	648/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CLN8_chr8_1758789_1791570	1763475	CCCCGCCG others(157): Show CCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGC CCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCG CCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCC CCGCCCCCCGCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0002 a0001c0001t0073g0002	1	413	0.0024	-164	c.-53 others(9): Show c.-533_-370del		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					313		chr8	TogoVar
CNTNAP2_chr7_146111801_148425998	148365904	ACATGCGT others(157): Show ACATGCGTGTATGCATGTATACATGCGTGTATGCATGTATACATGCGTGT ATGCATGTATACATGTGTGTATGCATGTATACATGTGTGTATGCATGTAT GCATGTGTGTATGCATGTATGCATGTGTGTGTATGCATGTATGCATGTGT GTGTATGCATGTATG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp1 HG02922.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0010 a0001c0001t0012 a0001c0002t0010	a0001c0001t0012g0034 a0001c0002t0010g0002 a0001c0001t0012g0034 a0001c0002t0010g0002	2	40	0.0500	-164	c.347 others(21): Show c.3476-17740_3476-17577del		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A2_chr13_110302284_110518209	110355676	GTGGGGGT others(157): Show GTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGT GGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACT AGCTCACCTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0017 a0017	a0017c0061 a0017c0061	a0017c0061t0011 a0017c0061t0011	a0017c0061t0011g0039 a0017c0061t0011g0039	1	372	0.0027	-164	c.100 others(17): Show c.100-1795_100-1632del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47						chr13	TogoVar
CRLF2_chrX_1185490_1217649	1211389	ATGGATGG others(157): Show ATGGATGGATGGATAAGTGGATAAAAGTGTGGGTGAATGCATGGATAGAT GGATGTATTGGTGGATGGATGGGTGGATGGGTGGATGGATGGATGGATGG ATGGATAAGTGGATAAAAGTGTGGGTGAATGCATGGATAGATGGATGTAT TGGTGGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0002 a0005c0026t0002	a0005c0026t0002g0102 a0005c0026t0002g0102	1	167	0.0060	-164	c.79+ others(15): Show c.79+1003_79+1166del		CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7						chrX	TogoVar
CROCC2_chr2_240901336_240998311	240985568	ACACACCC others(157): Show ACACACCCAGCACACACACCCAGGCACTCACTCCACACACACCCAGACAC TCACTCCACACACACCCAGGCACTCACTCCACACACACCCAGCACACACA CCCAGGCACTCACTCCACACACACCCAGGCACTCACTCCACACACACACA CCCAGGCACTCACTC	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0015	1	350	0.0029	-164	c.455 others(19): Show c.4551+2545_4551+2708del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
DACH1_chr13_71432966_71872204	71553287	CATATATC others(157): Show CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATATGTATATTAGACATATATCCATATATGTATATTAGA CATATATCCATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	102	0.0098	-164	c.157 others(19): Show c.1570+3573_1570+3736del		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10						chr13	TogoVar
DCAKD_chr17_45018344_45056632	45051880	CGGGCGGG others(157): Show CGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAG GTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCG GGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCG GACGCGGGAGAGGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp2 others(12): Show HG00140.hp1 HG00408.hp2 HG00423.hp2 HG01123.hp1 HG02015.hp2 HG02055.hp1 HG02132.hp1 HG02698.hp1 NA18944.hp1 NA18951.hp1 NA18975.hp2 NA18984.hp1 NA19005.hp1 NA19054.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0009 a0001c0001t0016 a0001c0001t0030 others(4): Show a0001c0001t0009 a0001c0001t0016 a0001c0001t0030 a0001c0001t0039 a0001c0001t0059 a0001c0001t0062 a0004c0007t0009	a0001c0001t0009g0017 a0001c0001t0009g0237 a0001c0001t0009g0238 others(12): Show a0001c0001t0009g0017 a0001c0001t0009g0237 a0001c0001t0009g0238 a0001c0001t0009g0241 a0001c0001t0009g0244 a0001c0001t0009g0249 a0001c0001t0009g0254 a0001c0001t0009g0256 a0001c0001t0009g0257 a0001c0001t0016g0247 a0001c0001t0030g0258 a0001c0001t0039g0255 a0001c0001t0059g0193 a0001c0001t0062g0253 a0004c0007t0009g0268	15	408	0.0368	-164	c.-79 others(9): Show c.-798_-635del		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding					249		chr17	TogoVar
DLGAP2_chr8_732628_1713476	1015897	AGACGATG others(157): Show AGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCCACTG TGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGA CGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGACCAGGACAGAC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-164	c.73+ others(19): Show c.73+107936_73+108099del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1034074	CCTCATCC others(157): Show CCTCATCCCGACCCCGCGTGTCACCGCGAGGGGACTCACACCCTCATCCC GACCCCACGTGTCACCGCGAGTGGACTCACACGCTCATCCCGACCCCGCG TGTCACAGCAAGCGGGTTCACAGCCTCATCCCGACCCTGCGTGTCACCGC GAGTGGATTCACACG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	-164	c.73+ others(19): Show c.73+126138_73+126301del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1034729	CGCTCATC others(157): Show CGCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCC CGACCCCGCGTGTCACCGCGAGTGGATTCACACGCTCATCCCGACCCCGC GTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCACATGTCACCG CGAGTGGGTTCACAG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-164	c.73+ others(19): Show c.73+126764_73+126927del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14						chr8	TogoVar
DLGAP2_chr8_732628_1713476	1035132	GTTCACAG others(157): Show GTTCACAGCCTCATCCCGACCCCGCGTGTCACCGCGAGGGGACTCACACC CTCATCCCGACCCCACGTGTCACCGCGAGTGGACTCACACGCTCATCCCG ACCCCGCGTGTCACAGCAAGCGGGTTCACAGCCTCATCCCGACCCTGCGT GTCACCGCGAGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02895.hp2 HG02818.hp2 HG02895.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0021 a0002c0007t0008 a0002c0006t0021 a0002c0007t0008	a0002c0006t0021g0014 a0002c0007t0008g0040 a0002c0006t0021g0014 a0002c0007t0008g0040	2	40	0.0500	-164	c.73+ others(19): Show c.73+127173_73+127336del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI2_chr17_74269234_74319884	74301843	AAAGGAAA others(157): Show AAAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0049 a0001c0024t0001g0049	1	398	0.0025	-164	c.987 others(15): Show c.987+738_987+901del		DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
EGFL7_chr9_136657916_136677678	136675321	GGGCCAGC others(157): Show GGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGGGGCCAGCA GGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTG GGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGC AGCAGGGAGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00609.hp2 others(35): Show HG00140.hp2 HG00408.hp1 HG00609.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG02004.hp1 HG02135.hp1 HG02300.hp2 HG02698.hp2 HG02970.hp2 HG03041.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18940.hp1 NA18944.hp1 NA18966.hp2 NA18980.hp2 NA18981.hp1 NA18995.hp2 NA18997.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0011c0009	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0011c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0107 a0001c0001t0003g0002 a0001c0003t0001g0151 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0065 a0002c0002t0001g0070 a0002c0002t0001g0081 a0002c0002t0001g0142 a0002c0002t0002g0010 a0011c0009t0001g0004	38	432	0.0880	-164	c.30 others(11): Show c.3036_*3199del		EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding					2644		chr9	TogoVar

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