JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ 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
HLA-DOA_chr6_32999182_33014591	33011125	T T	TATTTCAC others(25): Show TATTTCACATGGGCTCTAATAAATGTGATGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	471	0.0021	32	c.-15 others(43): Show c.-1590_-1589insCTGCATCACATTTATTAGAGCCCATGTGAAAT	HLA-DOA	ENSG00000204252.14	transcript	ENST00000229829.7	protein_coding		1535		chr6	TogoVar
HLA-DQB1_chr6_32654467_32671657	32657005	G G	GAATGTCC others(25): Show GAATGTCCTAGAATATAATCTATCACCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(17): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG02080.hp2 HG02109.hp2 HG02148.hp2 HG02572.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 NA20129.hp2	a0008 a0017 a0008 a0017	a0008c0008 a0017c0016 a0008c0008 a0017c0016	a0008c0008t0008 a0017c0016t0008 a0008c0008t0008 a0017c0016t0008	a0008c0008t0008g0008 a0008c0008t0008g0051 a0017c0016t0008g0052 a0008c0008t0008g0008 a0008c0008t0008g0051 a0017c0016t0008g0052	20	402	0.0498	32	c.32 others(43): Show c.3230_*3231insGGGGTGGGTGATAGATTATATTCTAGGACATT	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding		2461		chr6	TogoVar
HLA-DQB1_chr6_32654467_32671657	32657006	A A	AATGTCCT others(25): Show AATGTCCTAGAATATAATCTATCACCCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp2 others(189): Show HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0009 a0010 a0012 a0016	a0001c0001 a0002c0002 a0002c0017 others(5): Show a0001c0001 a0002c0002 a0002c0017 a0004c0004 a0009c0010 a0010c0009 a0012c0012 a0016c0018	a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 others(11): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0002c0002t0002 a0002c0017t0002 a0004c0004t0001 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0012c0012t0002 a0012c0012t0018 a0016c0018t0002	a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 others(28): Show a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 a0001c0001t0014g0021 a0001c0001t0014g0033 a0002c0002t0002g0007 a0002c0002t0002g0010 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0017t0002g0045 a0004c0004t0001g0002 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0036 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0012c0012t0002g0012 a0012c0012t0018g0039 a0016c0018t0002g0042	192	402	0.4776	32	c.32 others(43): Show c.3229_*3230insCGGGGTGGGTGATAGATTATATTCTAGGACAT	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding		2460		chr6	TogoVar
HLA-DRB5_chr6_32512353_32535287	32521801	C C	CCTCTCTC others(25): Show CCTCTCTCTCTCTCTCTGTCTCTCTCTTCCTCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	19	0.0526	32	c.370 others(47): Show c.370+103_370+104insAGAGGAAGAGAGAGACAGAGAGAGAGAGAG AG	HLA-DRB5	ENSG00000198502.6	transcript	ENST00000374975.4	protein_coding	2/5			chr6	TogoVar
HLA-E_chr6_30484509_30499194	30494127	T T	TCCCCTCA others(25): Show TCCCCTCACCTTCCCAGGCTGATCTGAGGTAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0001 a0001c0003t0012g0001	1	457	0.0022	32	c.13 others(43): Show c.1383_*1414dupCCCTCACCTTCCCAGGCTGATCTGAGGTAAAC	HLA-E	ENSG00000204592.9	transcript	ENST00000376630.5	protein_coding	8/8	1580	INFO_REALIGN_3_PRIME	chr6	TogoVar
HLA-G_chr6_29822825_29836021	29831449	T T	TTTTTTTT others(25): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG03831.hp2 HG03927.hp1 HG00735.hp1 HG03831.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	479	0.0063	32	c.71 others(41): Show c.710_*711insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		429		chr6	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01258.hp1 others(10): Show HG01109.hp1 HG01257.hp2 HG01258.hp1 HG02129.hp1 HG02602.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp2 HG03453.hp2 NA18940.hp1 NA18959.hp2 NA19030.hp1 NA19088.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0008c0012	a0001c0001t0001 a0001c0001t0019 a0001c0001t0026 others(7): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0026 a0001c0001t0029 a0001c0001t0038 a0001c0001t0107 a0001c0003t0054 a0002c0002t0002 a0002c0002t0013 a0008c0012t0035	a0001c0001t0001g0010 a0001c0001t0019g0061 a0001c0001t0019g0101 others(10): Show a0001c0001t0001g0010 a0001c0001t0019g0061 a0001c0001t0019g0101 a0001c0001t0026g0250 a0001c0001t0026g0251 a0001c0001t0029g0051 a0001c0001t0038g0054 a0001c0001t0107g0050 a0001c0003t0054g0217 a0002c0002t0002g0143 a0002c0002t0002g0155 a0002c0002t0013g0147 a0008c0012t0035g0069	13	258	0.0504	32	c.189 others(53): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HMBOX1_chr8_28885395_29058262	28926304	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0325 a0001c0001t0003g0325	1	344	0.0029	32	c.-58 others(51): Show c.-58+35627_-58+35628insTATATATATATATATATATATATACA CACACA	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG01358.hp2 others(29): Show HG00597.hp2 HG00642.hp1 HG01358.hp2 HG01943.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02922.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp2 NA18956.hp1 NA18966.hp1 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19057.hp2 NA19063.hp2 NA19072.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0271 a0001c0001t0001g0299 a0001c0001t0001g0322 others(29): Show a0001c0001t0001g0271 a0001c0001t0001g0299 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0212 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0246 a0001c0001t0002g0286 a0001c0001t0002g0295 a0001c0001t0003g0118 a0001c0001t0003g0325 a0001c0001t0004g0064 a0001c0001t0004g0127 a0001c0001t0005g0161 a0001c0001t0005g0215 a0001c0001t0006g0336 a0001c0001t0008g0001 a0001c0001t0009g0131 a0001c0001t0016g0329 a0001c0001t0019g0173	32	344	0.0930	32	c.587 others(49): Show c.587-5495_587-5494insATATATATATATATATATATATATATAT ATAT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMCN1_chr1_185729391_186195949	186005102	A A	AAATTGTT others(25): Show AAATTGTTTATAAATGTTTATAAACAATTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01243.hp2 others(8): Show HG00639.hp2 HG00735.hp1 HG01243.hp2 HG01261.hp1 HG01516.hp2 HG02055.hp2 HG02258.hp2 HG02486.hp1 HG02809.hp1 HG03942.hp1 NA18960.hp2	a0001 a0003 a0006 others(8): Show a0001 a0003 a0006 a0031 a0033 a0034 a0035 a0038 a0040 a0046 a0047	a0001c0035 a0003c0003 a0006c0006 others(8): Show a0001c0035 a0003c0003 a0006c0006 a0031c0023 a0033c0029 a0034c0031 a0035c0030 a0038c0036 a0040c0034 a0046c0042 a0047c0014	a0001c0035t0001 a0003c0003t0001 a0006c0006t0005 others(8): Show a0001c0035t0001 a0003c0003t0001 a0006c0006t0005 a0031c0023t0001 a0033c0029t0001 a0034c0031t0001 a0035c0030t0001 a0038c0036t0005 a0040c0034t0001 a0046c0042t0001 a0047c0014t0001	a0001c0035t0001g0020 a0003c0003t0001g0051 a0006c0006t0005g0080 others(8): Show a0001c0035t0001g0020 a0003c0003t0001g0051 a0006c0006t0005g0080 a0031c0023t0001g0074 a0033c0029t0001g0009 a0034c0031t0001g0006 a0035c0030t0001g0065 a0038c0036t0005g0033 a0040c0034t0001g0031 a0046c0042t0001g0043 a0047c0014t0001g0055	11	92	0.1196	32	c.447 others(51): Show c.4475+1368_4475+1399dupTGTTTATAAACAATTTTTTAATTGTT TATAAA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186005303	A A	AAATTGTT others(25): Show AAATTGTTTATAAATGTTTATAAACAATTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02698.hp1 HG02622.hp1 HG02698.hp1	a0003 a0009 a0003 a0009	a0003c0018 a0009c0050 a0003c0018 a0009c0050	a0003c0018t0002 a0009c0050t0002 a0003c0018t0002 a0009c0050t0002	a0003c0018t0002g0046 a0009c0050t0002g0048 a0003c0018t0002g0046 a0009c0050t0002g0048	2	92	0.0217	32	c.447 others(51): Show c.4475+1518_4475+1549dupTTTTTTAATTGTTTATAAATGTTTAT AAACAA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186005362	T T	TTTTTTAA others(25): Show TTTTTTAATTGTTTATAAATGTTTATAAACAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0085 a0008c0009t0002g0085	1	92	0.0109	32	c.447 others(51): Show c.4475+1565_4475+1596dupTAAATGTTTATAAACAAGTTTTTAAT TGTTTA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186063066	G G	GTGTGTGT others(25): Show GTGTGTGTGCATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0047 a0047	a0047c0014 a0047c0014	a0047c0014t0001 a0047c0014t0001	a0047c0014t0001g0055 a0047c0014t0001g0055	1	92	0.0109	32	c.751 others(49): Show c.7513+466_7513+467insTGTGTGTGCATATATATATATATATATA TATA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106			chr1	TogoVar
HMCN1_chr1_185729391_186195949	186063096	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0015 a0004c0002t0001g0015	1	92	0.0109	32	c.751 others(49): Show c.7513+503_7513+504insATATATATATATATATATATATATGTAT ATAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCCCTCC others(25): Show GTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG01978.hp2 others(10): Show HG00140.hp2 HG00408.hp1 HG01978.hp2 HG02080.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG03209.hp1 NA18906.hp2 NA18955.hp1 NA18990.hp2 NA20752.hp2	a0018 a0024 a0033 others(10): Show a0018 a0024 a0033 a0044 a0075 a0085 a0094 a0105 a0120 a0133 a0135 a0153 a0180	a0018c0065 a0024c0166 a0033c0184 others(10): Show a0018c0065 a0024c0166 a0033c0184 a0044c0041 a0075c0110 a0085c0097 a0094c0090 a0105c0046 a0120c0123 a0133c0152 a0135c0150 a0153c0172 a0180c0213	a0018c0065t0001 a0024c0166t0002 a0033c0184t0002 others(10): Show a0018c0065t0001 a0024c0166t0002 a0033c0184t0002 a0044c0041t0001 a0075c0110t0001 a0085c0097t0001 a0094c0090t0001 a0105c0046t0001 a0120c0123t0001 a0133c0152t0002 a0135c0150t0002 a0153c0172t0002 a0180c0213t0002	a0018c0065t0001g0106 a0024c0166t0002g0178 a0033c0184t0002g0240 others(10): Show a0018c0065t0001g0106 a0024c0166t0002g0178 a0033c0184t0002g0240 a0044c0041t0001g0094 a0075c0110t0001g0058 a0085c0097t0001g0019 a0094c0090t0001g0146 a0105c0046t0001g0020 a0120c0123t0001g0147 a0133c0152t0002g0204 a0135c0150t0002g0177 a0153c0172t0002g0234 a0180c0213t0002g0228	13	258	0.0504	32	c.235 others(51): Show c.2350+2448_2350+2479dupCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCTCTCT others(25): Show GTCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01070.hp2 others(10): Show HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01243.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01993.hp2 HG02004.hp2 HG02698.hp1 HG03654.hp1 NA18993.hp2 NA19240.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0009 a0010 a0011 a0023 a0050 a0059 a0069 a0088 a0176	a0001c0013 a0002c0005 a0003c0009 others(10): Show a0001c0013 a0002c0005 a0003c0009 a0004c0088 a0009c0199 a0010c0020 a0011c0203 a0023c0127 a0050c0102 a0059c0057 a0069c0061 a0088c0081 a0176c0177	a0001c0013t0001 a0002c0005t0002 a0003c0009t0001 others(10): Show a0001c0013t0001 a0002c0005t0002 a0003c0009t0001 a0004c0088t0001 a0009c0199t0002 a0010c0020t0001 a0011c0203t0002 a0023c0127t0001 a0050c0102t0001 a0059c0057t0001 a0069c0061t0003 a0088c0081t0001 a0176c0177t0002	a0001c0013t0001g0093 a0002c0005t0002g0235 a0003c0009t0001g0101 others(10): Show a0001c0013t0001g0093 a0002c0005t0002g0235 a0003c0009t0001g0101 a0004c0088t0001g0134 a0009c0199t0002g0254 a0010c0020t0001g0099 a0011c0203t0002g0222 a0023c0127t0001g0097 a0050c0102t0001g0039 a0059c0057t0001g0115 a0069c0061t0003g0121 a0088c0081t0001g0032 a0176c0177t0002g0233	13	258	0.0504	32	c.235 others(51): Show c.2350+2446_2350+2447insTCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18522.hp1 HG02602.hp2 NA18522.hp1	a0008 a0144 a0008 a0144	a0008c0042 a0144c0159 a0008c0042 a0144c0159	a0008c0042t0001 a0144c0159t0002 a0008c0042t0001 a0144c0159t0002	a0008c0042t0001g0081 a0144c0159t0002g0242 a0008c0042t0001g0081 a0144c0159t0002g0242	2	258	0.0078	32	c.235 others(51): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19074.hp2 HG01952.hp1 NA19074.hp2	a0017 a0152 a0017 a0152	a0017c0076 a0152c0170 a0017c0076 a0152c0170	a0017c0076t0001 a0152c0170t0002 a0017c0076t0001 a0152c0170t0002	a0017c0076t0001g0005 a0152c0170t0002g0170 a0017c0076t0001g0005 a0152c0170t0002g0170	2	258	0.0078	32	c.235 others(51): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT TCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02572.hp1 HG00597.hp2 HG02572.hp1	a0002 a0016 a0002 a0016	a0002c0005 a0016c0019 a0002c0005 a0016c0019	a0002c0005t0002 a0016c0019t0001 a0002c0005t0002 a0016c0019t0001	a0002c0005t0002g0232 a0016c0019t0001g0034 a0002c0005t0002g0232 a0016c0019t0001g0034	2	258	0.0078	32	c.235 others(51): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCTT TCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 HG02970.hp1 HG03195.hp2	a0113 a0114 a0113 a0114	a0113c0120 a0114c0220 a0113c0120 a0114c0220	a0113c0120t0001 a0114c0220t0001 a0113c0120t0001 a0114c0220t0001	a0113c0120t0001g0021 a0114c0220t0001g0045 a0113c0120t0001g0021 a0114c0220t0001g0045	2	258	0.0078	32	c.235 others(51): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCTTTCTTTCTT TCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312542	T T	TCCCTCCC others(25): Show TCCCTCCCTCCCTCCCTCCCTCCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0002 a0027c0023t0002	a0027c0023t0002g0205 a0027c0023t0002g0205	1	258	0.0039	32	c.235 others(51): Show c.2350+2481_2350+2482insCCCTCCCTCCCTCCCTCCCTCCCCTC CCTCCC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97			chr9	TogoVar
HMCN2_chr9_130260760_130439123	130373707	A A	AGATGGAT others(25): Show AGATGGATGGATGGATGGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	258	0.0039	32	c.743 others(49): Show c.7438+606_7438+607insGGATGGATGGATGGATGGATGGATGGAT GGAT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	48/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGB3_chrX_150978335_150995771	150979890	G G	GCAGGTGC others(25): Show GCAGGTGCTGCTTGCTGGCATGTAGCTAAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	330	0.0030	32	c.-34 others(43): Show c.-3492_-3491insCAGGTGCTGCTTGCTGGCATGTAGCTAAGGGC	HMGB3	ENSG00000029993.15	transcript	ENST00000325307.12	protein_coding		3444		chrX	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01069.hp2 others(22): Show HG00280.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01123.hp1 HG01358.hp2 HG02109.hp2 HG02273.hp2 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03471.hp1 HG04184.hp2 HG04199.hp1 NA18986.hp1 NA18990.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0022 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0004g0004 a0001c0001t0004g0021 a0001c0001t0005g0018 a0001c0001t0006g0006 a0001c0001t0006g0112 a0001c0001t0007g0003 a0001c0001t0009g0102 a0001c0001t0010g0105 a0001c0001t0022g0109 a0002c0002t0001g0025 a0002c0002t0004g0020	25	414	0.0604	32	c.57 others(43): Show c.5742_*5743insATATATATATATATATATATATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337395	A A	ATATATAT others(25): Show ATATATATATATATATATATATATAGTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	32	c.57 others(43): Show c.5716_*5717insATATATACTATATATATATATATATATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4919		chr21	TogoVar
HMGN3_chr6_79196245_79239682	79238247	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	322	0.0031	32	c.-36 others(43): Show c.-3688_-3687insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	HMGN3	ENSG00000118418.16	transcript	ENST00000620514.2	protein_coding		3566		chr6	TogoVar
HMHB1_chr5_143807161_143825716	143820318	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01952.hp2 NA18947.hp1 others(2): Show HG01099.hp1 HG01952.hp2 NA18947.hp1 NA18961.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	5	458	0.0109	32	c.38- others(45): Show c.38-161_38-130dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMOX1_chr22_35376096_35399207	35389395	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	384	0.0026	32	c.637 others(47): Show c.637-466_637-465insCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HNF1B_chr17_37681431_37750059	37745931	A A	AATGGTGA others(25): Show AATGGTGAGGCACTAGGATGGTGAGGCACTAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02630.hp2 others(7): Show HG01243.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02965.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0003t0005 a0001c0003t0006	a0001c0001t0001g0347 a0001c0001t0005g0194 a0001c0001t0005g0195 others(7): Show a0001c0001t0001g0347 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0346 a0001c0001t0005g0348 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0003t0005g0350 a0001c0003t0006g0349	10	409	0.0245	32	c.-10 others(43): Show c.-1048_-1047insCCTAGTGCCTCACCATCCTAGTGCCTCACCAT	HNF1B	ENSG00000275410.6	transcript	ENST00000617811.5	protein_coding		873		chr17	TogoVar
HNF4A_chr20_44350699_44437845	44436033	G G	GCCTGTAA others(25): Show GCCTGTAATCTCAGCACTTTGGGAGGCTGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	322	0.0031	32	c.63 others(43): Show c.6368_*6369insCCTGTAATCTCAGCACTTTGGGAGGCTGAGGC	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding		3189		chr20	TogoVar
HNMT_chr2_137959473_138021364	137978428	A A	ATATACAA others(25): Show ATATACAATACATATGATTAGATAATATAGTAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03486.hp2 NA18974.hp2 others(1): Show HG02523.hp1 HG03486.hp2 NA18974.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0029 a0001c0001t0002g0269 a0001c0001t0003g0070 a0001c0001t0002g0029 a0001c0001t0002g0269 a0001c0001t0003g0070	4	332	0.0121	32	c.190 others(49): Show c.190+8263_190+8294dupGATAATATAGTATTATACAATACATATG ATTA	HNMT	ENSG00000150540.14	transcript	ENST00000280097.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
HNMT_chr2_137959473_138021364	137978605	T T	TATAATAT others(25): Show TATAATATAGTATCATACAATACATATGATTAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG02258.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	2	332	0.0060	32	c.190 others(49): Show c.190+8400_190+8401insCATACAATACATATGATTAGATAATATA GTAT	HNMT	ENSG00000150540.14	transcript	ENST00000280097.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
HNMT_chr2_137959473_138021364	137978605	T T	TATAATAT others(25): Show TATAATATAGTATTATACAATACATATGATTAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(141): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01516.hp2 HG01943.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0002c0002t0002 a0002c0002t0020	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0194 a0001c0001t0001g0260 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0188 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0076 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0263 a0001c0001t0005g0033 a0001c0001t0007g0077 a0001c0001t0007g0090 a0001c0001t0007g0139 a0001c0001t0008g0184 a0001c0001t0009g0009 a0001c0001t0010g0155 a0001c0001t0010g0156 a0001c0001t0011g0005 a0001c0001t0011g0080 a0001c0001t0015g0266 a0001c0001t0016g0097 a0001c0001t0021g0265 a0001c0001t0022g0115 a0002c0002t0002g0016 a0002c0002t0002g0031 a0002c0002t0002g0082 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0111 a0002c0002t0002g0114 a0002c0002t0002g0127 a0002c0002t0002g0132 a0002c0002t0002g0138 a0002c0002t0002g0142 a0002c0002t0020g0016	144	332	0.4337	32	c.190 others(49): Show c.190+8484_190+8515dupGATAATATAGTATTATACAATACATATG ATTA	HNMT	ENSG00000150540.14	transcript	ENST00000280097.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
HNMT_chr2_137959473_138021364	137978638	A A	ATAATATA others(25): Show ATAATATAGTATTATACAATACATATGATTAGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02559.hp2 others(2): Show HG02055.hp1 HG02280.hp2 HG02559.hp2 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0028 a0001c0001t0006g0047 a0001c0001t0006g0048 others(1): Show a0001c0001t0003g0028 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049	5	332	0.0151	32	c.190 others(49): Show c.190+8452_190+8453insGTAATATAGTATTATACAATACATATGA TTAG	HNMT	ENSG00000150540.14	transcript	ENST00000280097.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
HNMT_chr2_137959473_138021364	137978701	G G	GATAATAT others(25): Show GATAATATAGTATTATACAATACATATGATTAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	332	0.0030	32	c.190 others(49): Show c.190+8533_190+8564dupCAATACATATGATTATATAATATAGTAT TATA	HNMT	ENSG00000150540.14	transcript	ENST00000280097.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA19078.hp2 NA18957.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0140 a0001c0001t0003g0001 a0001c0001t0002g0140 a0001c0001t0003g0001	2	332	0.0060	32	c.62 others(43): Show c.6213_*6214insTATATATATATATATATATATATATATATATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HNRNPH2_chrX_101403222_101419133	101407461	C C	CGAGAGAG others(25): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	308	0.0033	32	c.-91 others(41): Show c.-912_-911insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	HNRNPH2	ENSG00000126945.9	transcript	ENST00000316594.6	protein_coding		760		chrX	TogoVar
HNRNPLL_chr2_38556969_38607928	38588546	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19084.hp1 NA18950.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0259 a0002c0002t0006g0262 a0002c0002t0006g0259 a0002c0002t0006g0262	2	338	0.0059	32	c.309 others(49): Show c.309-2666_309-2665insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	HNRNPLL	ENSG00000143889.16	transcript	ENST00000449105.8	protein_coding	2/12			chr2	TogoVar
HOMER2_chr15_82843983_82957720	82860956	T T	TGAGAGAG others(25): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03225.hp1 HG03490.hp1 others(1): Show HG01496.hp2 HG03225.hp1 HG03490.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0075 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0177	4	348	0.0115	32	c.388 others(49): Show c.388-1822_388-1821insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82860978	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0337 a0002c0002t0001g0337	1	348	0.0029	32	c.388 others(49): Show c.388-1844_388-1843insCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01346.hp2 HG01358.hp1 others(7): Show HG00140.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01934.hp1 HG01993.hp2 HG02080.hp2 HG02300.hp2 HG02523.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0013 a0001c0001t0001g0138 a0001c0001t0001g0157 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0232 a0001c0001t0001g0248 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0012g0265	10	348	0.0287	32	c.295 others(49): Show c.295-4265_295-4264insTATATATATATATATATATATATATATA TATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18947.hp1 NA18998.hp2 others(2): Show HG02922.hp1 NA18947.hp1 NA18998.hp2 NA19079.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0211 a0001c0001t0001g0253 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0211 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0293 a0001c0001t0002g0256	5	348	0.0144	32	c.295 others(49): Show c.295-4283_295-4282insAATATATATATATATATATATATATATA TATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER3_chr19_18924203_18946217	18925161	A A	AGGCAAGA others(25): Show AGGCAAGAAGATCACTTGAACCCGGGAGGTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(123): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18945.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18962.hp1 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0003c0012 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0003c0012t0002 a0004c0013t0001	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0062 others(67): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0219 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0203 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0002g0021 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0003g0052 a0001c0002t0003g0240 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0002g0230 a0001c0008t0001g0195 a0001c0008t0001g0198 a0003c0012t0002g0222 a0004c0013t0001g0184	126	412	0.3058	32	c.42 others(43): Show c.4250_*4281dupGCAACCTCCCGGGTTCAAGTGATCTTCTTGCC	HOMER3	ENSG00000051128.19	transcript	ENST00000392351.8	protein_coding		4041		chr19	TogoVar
HOXA3_chr7_27102010_27157583	27114837	A A	ATATATAT others(25): Show ATATATATTATATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02145.hp2 HG02559.hp2 others(1): Show HG01081.hp1 HG02145.hp2 HG02559.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0207 a0001c0001t0001g0208 others(1): Show a0001c0001t0001g0193 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212	4	326	0.0123	32	c.-12 others(51): Show c.-120-4078_-120-4077insATATATAATATATATAATATATATAA TATATA	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	326	0.0031	32	c.-39 others(47): Show c.-390+81_-390+82insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	398	0.0025	32	c.18 others(43): Show c.1833_*1834insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXC4_chr12_54048835_54061030	54058950	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	400	0.0025	32	c.37 others(43): Show c.3745_*3746insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	HOXC4	ENSG00000198353.8	transcript	ENST00000430889.3	protein_coding		2921		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(25): Show TTCTCTTCTCTTCTCTTCTCTTCTTTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	306	0.0033	32	c.26 others(43): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTTTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(25): Show TTCTCTTCTCTTCTTTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02109.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0028 a0001c0001t0006 a0001c0001t0028	a0001c0001t0006g0001 a0001c0001t0028g0001 a0001c0001t0006g0001 a0001c0001t0028g0001	2	306	0.0065	32	c.26 others(43): Show c.2619_*2620insTCTCTTCTCTTCTTTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(25): Show TTCTCTTCTCTTCTTTCTTTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0001 a0001c0001t0059g0001	1	306	0.0033	32	c.26 others(43): Show c.2619_*2620insTCTCTTCTCTTCTTTCTTTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar

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