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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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
SGIP1_chr1_66529153_66756139	66630909	A A	AGGGAGGG others(18): Show AGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	302	0.0033	25	c.75- others(40): Show c.75-2147_75-2146insGAGGGAGGGAGGGGAGGGAGGGAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660127	A A	AGAAAGAA others(18): Show AGAAAGAAAGGAGGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0115 a0001c0001t0007g0115	1	302	0.0033	25	c.460 others(40): Show c.460-377_460-376insGAGGGAAGGAAGGAAGGAAAGAAAG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(18): Show GAAAAGAAAGAAAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp2 others(14): Show HG00140.hp1 HG00140.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG02615.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03225.hp1 HG03831.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0006t0004	a0001c0001t0001g0017 a0001c0001t0001g0114 a0001c0001t0001g0117 others(14): Show a0001c0001t0001g0017 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0233 a0001c0001t0003g0005 a0001c0002t0001g0136 a0001c0003t0001g0028 a0001c0006t0004g0111 a0001c0006t0004g0112	17	250	0.0680	25	c.286 others(44): Show c.286-24983_286-24982insTTCTCTCTCTCTCTTTCTTTCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04199.hp1 HG03453.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0039 a0001c0002t0006g0055 a0001c0002t0002g0039 a0001c0002t0006g0055	2	142	0.0141	25	c.-12 others(46): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA A	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66771199	A A	ATAGCCTC others(18): Show ATAGCCTCTGGTACAACCCACTCTAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	142	0.0070	25	c.-12 others(46): Show c.-121-22416_-121-22392dupTAGCCTCTGGTACAACCCACTCTA T	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66826636	C C	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp1 HG03453.hp2 HG02559.hp1 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0006g0055 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0006g0055	3	142	0.0211	25	c.418 others(42): Show c.418-2014_418-1990dupATTTTATTTTATTTTATTTTATTTT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGO2_chr2_200521207_200589096	200588726	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0314 a0001c0002t0001g0314	1	384	0.0026	25	c.52 others(36): Show c.5262_*5263insTTTTTTTTTTTTTTTTTTTTTTTTT	SGO2	ENSG00000163535.18	transcript	ENST00000357799.9	protein_coding		4631		chr2	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG03490.hp2 others(4): Show HG00741.hp1 HG00741.hp2 HG03490.hp2 NA18968.hp2 NA18980.hp1 NA19074.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 a0001c0001t0050 a0002c0008t0023	a0001c0001t0001g0143 a0001c0001t0003g0069 a0001c0001t0004g0138 others(4): Show a0001c0001t0001g0143 a0001c0001t0003g0069 a0001c0001t0004g0138 a0001c0001t0013g0141 a0001c0001t0015g0142 a0001c0001t0050g0081 a0002c0008t0023g0168	7	272	0.0257	25	c.-23 others(36): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGSM2_chr17_2332501_2386054	2377498	A A	AACGAAAA others(18): Show AACGAAAAAAAAGAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18965.hp1 NA18981.hp1 others(1): Show HG01928.hp1 NA18965.hp1 NA18981.hp1 NA19064.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 a0001c0001 a0002c0002 a0005c0009	a0001c0001t0002 a0002c0002t0004 a0005c0009t0002 a0001c0001t0002 a0002c0002t0004 a0005c0009t0002	a0001c0001t0002g0207 a0001c0001t0002g0388 a0002c0002t0004g0050 others(1): Show a0001c0001t0002g0207 a0001c0001t0002g0388 a0002c0002t0004g0050 a0005c0009t0002g0384	4	422	0.0095	25	c.280 others(42): Show c.2803-358_2803-357insCGAAAAAAAAGAAAAAAAAAAAACA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02129.hp2 others(3): Show HG01891.hp1 HG01891.hp2 HG02129.hp2 HG02735.hp2 HG03195.hp2 HG03831.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0006 a0001c0001 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0004c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0004t0002 a0005c0006t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0317 others(3): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0317 a0001c0001t0002g0039 a0004c0004t0002g0115 a0005c0006t0001g0252	6	406	0.0148	25	c.-29 others(42): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D1B_chr1_162390268_162417136	162401485	A A	AATATATA others(18): Show AATATATACACATATATTGTGCATGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	424	0.0024	25	c.198 others(42): Show c.198+1229_198+1253dupACATGCACAATATATGTGTATATAT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	2/3			chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	25	c.-34 others(34): Show c.-340_-339insGAGAGAGAGAGAGAGAGAGAGAGAG	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80572986	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0317 a0004c0004t0002g0317	1	322	0.0031	25	c.495 others(42): Show c.495+1409_495+1410insATATATATATATATATATATTTTTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG03831.hp2 NA18612.hp1 others(2): Show HG01952.hp1 HG03831.hp2 NA18612.hp1 NA18967.hp2 NA18990.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0008c0010	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0008c0010t0001	a0001c0001t0001g0030 a0002c0002t0001g0004 a0003c0003t0001g0033 others(1): Show a0001c0001t0001g0030 a0002c0002t0001g0004 a0003c0003t0001g0033 a0008c0010t0001g0002	5	432	0.0116	25	c.-30 others(36): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3BGR_chr21_39446970_39520504	39510437	C C	CACACACA others(18): Show CACACACACACACACACACTGTAGCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG02818.hp2 others(3): Show HG01884.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp2 HG03098.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0032 a0002c0002t0001g0033 others(3): Show a0002c0002t0001g0020 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0106 a0002c0002t0001g0141 a0002c0002t0001g0142	6	302	0.0199	25	c.436 others(42): Show c.436-1224_436-1200dupTGTAGCTACACACACACACACACAC	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BP2_chr4_2788085_2846096	2844132	G G	GGCGGGCG others(18): Show GGCGGGCGGGGGCCGCGGGGCCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0062 a0001c0005t0062	a0001c0005t0062g0098 a0001c0005t0062g0098	1	378	0.0027	25	c.10 others(38): Show c.10298_*10299insGCGGGCGGGGGCCGCGGGGCCTGCA	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding		3037		chr4	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0133 a0001c0002t0003g0133	1	348	0.0029	25	c.118 others(42): Show c.118+1622_118+1623insAAAAAAAAAAAAAAAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0246 a0001c0008t0001g0246	1	348	0.0029	25	c.118 others(42): Show c.118+1622_118+1623insAAAAAAAAAAAAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG01070.hp2 others(13): Show HG00323.hp2 HG00544.hp1 HG01070.hp2 HG01981.hp1 HG02056.hp2 HG02080.hp2 HG03486.hp2 HG03492.hp2 HG03834.hp1 NA18943.hp2 NA18955.hp2 NA18994.hp1 NA19012.hp1 NA19081.hp1 NA19240.hp1 NA20752.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0013 a0001c0001 a0001c0002 a0009c0013	a0001c0001t0001 a0001c0002t0001 a0009c0013t0001 a0001c0001t0001 a0001c0002t0001 a0009c0013t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0074 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0002t0001g0016 a0001c0002t0001g0176 a0009c0013t0001g0007	16	376	0.0426	25	c.769 others(42): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL2_chr9_17574066_17802124	17622977	T T	TTTCCTTC others(18): Show TTTCCTTCCCTTTCCTTTCCTTTCCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	260	0.0039	25	c.45+ others(42): Show c.45+43696_45+43697insCCCTTTCCTTTCCTTTCCGTTCCTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17622977	T T	TTTCCTTT others(18): Show TTTCCTTTCCTTTCCTTTCCTTTCCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00609.hp1 others(20): Show HG00323.hp2 HG00558.hp2 HG00609.hp1 HG01192.hp1 HG01361.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02300.hp2 HG02895.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 NA18747.hp1 NA18966.hp2 NA18999.hp2 NA19012.hp1 NA19074.hp2 NA19086.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0091 others(20): Show a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0188 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0003g0002 a0001c0001t0003g0023 a0001c0001t0005g0022 a0001c0001t0007g0096	23	260	0.0885	25	c.45+ others(42): Show c.45+43698_45+43699insCTTTCCTTTCCTTTCCGTTCCTTTC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17622986	G G	GTTTCCTT others(18): Show GTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01255.hp1 HG02630.hp1 others(3): Show HG00280.hp1 HG01255.hp1 HG02630.hp1 HG02735.hp1 NA18999.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0147 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0246 a0001c0001t0001g0251	6	260	0.0231	25	c.45+ others(42): Show c.45+43732_45+43756dupTCCTTTCCTTTCCTTTCCTTTCCTT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL2_chr9_17574066_17802124	17740465	A A	AGTATTGT others(18): Show AGTATTGTATTGTATTGTATTGTATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp2 HG01516.hp1 others(1): Show HG00733.hp1 HG01361.hp2 HG01516.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0094 a0001c0001t0003g0151 others(1): Show a0001c0001t0003g0028 a0001c0001t0003g0094 a0001c0001t0003g0151 a0001c0001t0003g0237	4	260	0.0154	25	c.46- others(40): Show c.46-6595_46-6571dupGTATTGTATTGTATTGTATTGTATT	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	318	0.0031	25	c.570 others(40): Show c.570+488_570+489insAAAAAAATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0117 a0001c0001t0005g0117	1	318	0.0031	25	c.570 others(40): Show c.570+488_570+489insAAATATATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19531524	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 NA19240.hp2 HG01884.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0194 a0001c0001t0001g0201	2	204	0.0098	25	c.48 others(36): Show c.4892_*4893insAAAAAAAAAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding		2452		chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19551550	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG06807.hp2 HG02615.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0178 a0001c0002t0002g0202 a0001c0002t0002g0178 a0001c0002t0002g0202	2	204	0.0098	25	c.138 others(44): Show c.1385-1468_1385-1467insAAAAAAAAAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19554080	T T	TATATTAA others(18): Show TATATTAAAATATAATATTATATATC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	204	0.0049	25	c.138 others(44): Show c.1385-4022_1385-3998dupGATATATAATATTATATTTTAATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19554166	A A	ATATATAT others(18): Show ATATATATCATATTAAAATATAATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	204	0.0049	25	c.138 others(44): Show c.1385-4108_1385-4084dupATATTATATTTTAATATGATATATA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	204	0.0049	25	c.4+1 others(40): Show c.4+13238_4+13239insATATATATATATATATTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103608150	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAGTTTAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02818.hp2 HG02922.hp2 others(1): Show HG00741.hp2 HG02818.hp2 HG02922.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0041 a0001c0001t0103 a0001c0001t0022 a0001c0001t0041 a0001c0001t0103	a0001c0001t0022g0100 a0001c0001t0022g0110 a0001c0001t0041g0202 others(1): Show a0001c0001t0022g0100 a0001c0001t0022g0110 a0001c0001t0041g0202 a0001c0001t0103g0117	4	250	0.0160	25	c.130 others(44): Show c.1309-2234_1309-2233insGTAAACTTTTTTTTTTTTTTTTTTT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	13/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103608150	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAGTTTACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00597.hp1 others(36): Show HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01256.hp2 HG01978.hp1 HG02155.hp1 HG02165.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp2 NA18612.hp1 NA18906.hp2 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18959.hp2 NA18979.hp2 NA18990.hp1 NA19012.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19067.hp1 NA19077.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0016 a0002c0006 a0003c0007 a0008c0015	a0001c0001t0006 a0001c0001t0097 a0001c0002t0087 others(18): Show a0001c0001t0006 a0001c0001t0097 a0001c0002t0087 a0001c0003t0054 a0001c0004t0001 a0001c0004t0010 a0001c0004t0013 a0001c0004t0020 a0001c0004t0028 a0001c0004t0052 a0001c0004t0053 a0001c0004t0082 a0001c0004t0085 a0001c0014t0006 a0001c0016t0084 a0002c0006t0018 a0002c0006t0096 a0003c0007t0001 a0003c0007t0010 a0003c0007t0083 a0008c0015t0086	a0001c0001t0006g0089 a0001c0001t0006g0171 a0001c0001t0006g0238 others(36): Show a0001c0001t0006g0089 a0001c0001t0006g0171 a0001c0001t0006g0238 a0001c0001t0006g0242 a0001c0001t0097g0167 a0001c0002t0087g0194 a0001c0003t0054g0065 a0001c0004t0001g0087 a0001c0004t0001g0148 a0001c0004t0001g0177 a0001c0004t0010g0022 a0001c0004t0010g0036 a0001c0004t0010g0077 a0001c0004t0013g0196 a0001c0004t0013g0198 a0001c0004t0013g0200 a0001c0004t0013g0203 a0001c0004t0020g0104 a0001c0004t0020g0118 a0001c0004t0020g0185 a0001c0004t0028g0056 a0001c0004t0052g0037 a0001c0004t0053g0062 a0001c0004t0082g0234 a0001c0004t0085g0221 a0001c0014t0006g0111 a0001c0014t0006g0174 a0001c0016t0084g0131 a0002c0006t0018g0007 a0002c0006t0096g0199 a0003c0007t0001g0141 a0003c0007t0001g0147 a0003c0007t0001g0151 a0003c0007t0001g0159 a0003c0007t0001g0193 a0003c0007t0001g0204 a0003c0007t0010g0040 a0003c0007t0083g0126 a0008c0015t0086g0153	39	250	0.1560	25	c.130 others(44): Show c.1309-2234_1309-2233insTGTAAACTTTTTTTTTTTTTTTTTT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	13/14			chr10	TogoVar
SH3TC1_chr4_8194290_8246103	8244729	C C	CCATCCCA others(18): Show CCATCCCAAGGGTATGGAATGATCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03486.hp1 NA19240.hp2 HG02486.hp1 HG03486.hp1 NA19240.hp2	a0001 a0006 a0032 a0001 a0006 a0032	a0001c0001 a0006c0029 a0032c0082 a0001c0001 a0006c0029 a0032c0082	a0001c0001t0001 a0006c0029t0001 a0032c0082t0001 a0001c0001t0001 a0006c0029t0001 a0032c0082t0001	a0001c0001t0001g0117 a0006c0029t0001g0265 a0032c0082t0001g0101 a0001c0001t0001g0117 a0006c0029t0001g0265 a0032c0082t0001g0101	3	374	0.0080	25	c.37 others(36): Show c.3774_*3775insCATCCCAAGGGTATGGAATGATCAG	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding		3627		chr4	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG01256.hp1 others(6): Show HG00323.hp2 HG01255.hp1 HG01256.hp1 HG01515.hp1 HG02896.hp2 HG03041.hp1 HG03139.hp1 HG03490.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0014 others(1): Show a0001c0003 a0001c0010 a0001c0014 a0001c0019	a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 others(5): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0012 a0001c0003t0025 a0001c0010t0001 a0001c0014t0008 a0001c0019t0020	a0001c0003t0003g0292 a0001c0003t0004g0224 a0001c0003t0004g0226 others(6): Show a0001c0003t0003g0292 a0001c0003t0004g0224 a0001c0003t0004g0226 a0001c0003t0007g0053 a0001c0003t0012g0051 a0001c0003t0025g0012 a0001c0010t0001g0286 a0001c0014t0008g0230 a0001c0019t0020g0235	9	316	0.0285	25	c.576 others(42): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707876	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	316	0.0032	25	c.107 others(44): Show c.1078-3387_1078-3363dupGAAAAGAAAAGAAAAGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHC2_chr19_411589_466033	427491	A A	ACACGGCA others(18): Show ACACGGCACAGGGAAGGGGAATTGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02451.hp2 others(5): Show HG01109.hp2 HG01884.hp2 HG02451.hp2 HG02559.hp2 HG03225.hp2 HG03579.hp1 NA19030.hp1 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0007 a0001c0023 a0002c0024 others(2): Show a0001c0007 a0001c0023 a0002c0024 a0003c0008 a0006c0011	a0001c0007t0002 a0001c0007t0006 a0001c0023t0007 others(3): Show a0001c0007t0002 a0001c0007t0006 a0001c0023t0007 a0002c0024t0003 a0003c0008t0005 a0006c0011t0005	a0001c0007t0002g0080 a0001c0007t0006g0037 a0001c0007t0006g0055 others(5): Show a0001c0007t0002g0080 a0001c0007t0006g0037 a0001c0007t0006g0055 a0001c0023t0007g0186 a0002c0024t0003g0188 a0003c0008t0005g0182 a0006c0011t0005g0059 a0006c0011t0005g0063	8	212	0.0377	25	c.117 others(44): Show c.1175-2285_1175-2261dupCGCAATTCCCCTTCCCTGTGCCGTG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC3_chr9_89000771_89183818	89060095	G G	GTGGTGGA others(18): Show GTGGTGGAGGATGTGGTGGAGGACAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	188	0.0053	25	c.835 others(42): Show c.835+5409_835+5433dupTTGTCCTCCACCACATCCTCCACCA	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	6/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89182522	A A	AAAAATAA others(18): Show AAAAATAAAATAACATAAAATAACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03710.hp1 HG03017.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0153 a0001c0001t0006g0060 a0001c0001t0001g0153 a0001c0001t0006g0060	2	188	0.0106	25	c.-40 others(36): Show c.-4063_-4062insATGTTATTTTATGTTATTTTATTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding		3705		chr9	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01106.hp2 others(6): Show HG00423.hp1 HG00609.hp2 HG01106.hp2 HG01169.hp1 HG02155.hp1 HG02698.hp2 HG02738.hp2 NA18949.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0225 a0001c0001t0001g0306 a0001c0001t0001g0317 others(6): Show a0001c0001t0001g0225 a0001c0001t0001g0306 a0001c0001t0001g0317 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0077 a0001c0001t0002g0114 a0001c0001t0002g0207 a0001c0001t0004g0123	9	384	0.0234	25	c.656 others(42): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAAGGAA others(18): Show GAAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03669.hp2 NA20300.hp1 HG01358.hp2 HG03669.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0194 a0001c0001t0001g0227 a0001c0001t0001g0238	3	302	0.0099	25	c.118 others(44): Show c.1182+4945_1182+4946insTCTTTCTTTCTTTCTTTCTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924974	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19006.hp2 HG03195.hp1 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0001 a0002c0002t0001 a0001c0009t0001 a0002c0002t0001	a0001c0009t0001g0258 a0002c0002t0001g0031 a0001c0009t0001g0258 a0002c0002t0001g0031	2	302	0.0066	25	c.118 others(44): Show c.1182+4672_1182+4673insTCTTTCTTTCTTTCTTTCTTTCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA5_chr3_48462876_48509174	48481441	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01891.hp2 others(8): Show HG01109.hp1 HG01243.hp2 HG01891.hp2 HG02647.hp2 HG02895.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 others(8): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078	11	290	0.0379	25	c.234 others(42): Show c.234-2209_234-2185dupATTTTATTTTATTTTATTTTATTTT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA9_chr16_12896598_13245416	13142989	C C	CTTTTATT others(18): Show CTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG00673.hp1 others(18): Show HG00140.hp2 HG00621.hp1 HG00673.hp1 HG01255.hp2 HG01346.hp2 HG02083.hp2 HG02132.hp1 HG02258.hp1 HG02922.hp1 HG03209.hp1 HG03225.hp1 HG03654.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18955.hp2 NA18970.hp2 NA19010.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0038 a0001c0001t0057 a0001c0001t0089 a0001c0002t0009 a0001c0002t0013 a0001c0003t0008	a0001c0001t0001g0058 a0001c0001t0002g0173 a0001c0001t0003g0147 others(18): Show a0001c0001t0001g0058 a0001c0001t0002g0173 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0191 a0001c0001t0005g0095 a0001c0001t0007g0154 a0001c0001t0011g0139 a0001c0001t0015g0032 a0001c0001t0016g0212 a0001c0001t0019g0023 a0001c0001t0024g0110 a0001c0001t0025g0010 a0001c0001t0030g0024 a0001c0001t0031g0054 a0001c0001t0038g0129 a0001c0001t0057g0093 a0001c0001t0089g0143 a0001c0002t0009g0181 a0001c0002t0013g0125 a0001c0003t0008g0002	21	214	0.0981	25	c.692 others(44): Show c.692-60394_692-60370dupTTTTATTTTATTTTATTTTATTTTA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL2A_chr1_52628168_52662065	52645396	C C	CGTTTTGT others(18): Show CGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01261.hp2 others(21): Show HG00423.hp1 HG00642.hp2 HG01261.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG02109.hp2 HG02698.hp2 HG02896.hp2 HG02897.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp2 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA19003.hp2 NA19011.hp2 NA19068.hp2 NA19083.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 others(19): Show a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0254 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040	24	444	0.0541	25	c.322 others(42): Show c.322+2399_322+2423dupTGTTTTGTTTTGTTTTGTTTTGTTT	SHISAL2A	ENSG00000182183.15	transcript	ENST00000517870.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHOC1_chr9_111681171_111799937	111793622	A A	ATGGTTAG others(18): Show ATGGTTAGAGAGAGGTAATTTAAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0108 a0003c0003t0002g0108	1	296	0.0034	25	c.-37 others(42): Show c.-37+1277_-37+1278insATTTTAAATTACCTCTCTCTAACCA	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	1/27			chr9	TogoVar
SHOX_chrX_625791_656584	636970	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0166 a0001c0001t0166	a0001c0001t0166g0077 a0001c0001t0166g0077	1	220	0.0046	25	c.486 others(42): Show c.486+2145_486+2146insATATATATATATATATATATATATT	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	643672	A A	AGTGCCTT others(18): Show AGTGCCTTGGGGACCTAGTGACCCGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG01361.hp2 others(14): Show HG00423.hp1 HG00741.hp1 HG01361.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp2 HG02723.hp2 HG02809.hp2 HG02897.hp1 HG02976.hp2 HG06807.hp2 NA18906.hp1 NA18946.hp1 NA18979.hp1 NA19030.hp1 NA19057.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0019 others(13): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0019 a0001c0001t0063 a0001c0001t0087 a0001c0001t0104 a0001c0001t0105 a0001c0001t0113 a0001c0001t0165 a0001c0001t0166 a0001c0001t0168 a0001c0001t0169 a0001c0001t0172 a0001c0001t0175 a0001c0001t0178 a0001c0001t0184	a0001c0001t0002g0142 a0001c0001t0002g0166 a0001c0001t0017g0023 others(14): Show a0001c0001t0002g0142 a0001c0001t0002g0166 a0001c0001t0017g0023 a0001c0001t0019g0082 a0001c0001t0063g0208 a0001c0001t0087g0128 a0001c0001t0104g0079 a0001c0001t0105g0129 a0001c0001t0113g0058 a0001c0001t0165g0019 a0001c0001t0166g0077 a0001c0001t0168g0174 a0001c0001t0169g0131 a0001c0001t0172g0064 a0001c0001t0175g0168 a0001c0001t0178g0159 a0001c0001t0184g0125	17	220	0.0773	25	c.634 others(40): Show c.634-718_634-717insTGCCTTGGGGACCTAGTGACCCGGG	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHPK_chr17_3603240_3641250	3635240	A A	AGGAAGGA others(18): Show AGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp1 HG01169.hp1 others(20): Show HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01928.hp2 HG02080.hp1 HG02165.hp1 HG02683.hp2 HG03710.hp2 HG03927.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18994.hp1 NA19009.hp1 NA19009.hp2 NA19060.hp1 NA19085.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0011 a0001c0001 a0002c0002 a0011c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0031 a0002c0002t0002 a0011c0011t0002	a0001c0001t0001g0002 a0001c0001t0001g0102 a0001c0001t0001g0103 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0252 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0004g0114 a0001c0001t0008g0106 a0001c0001t0008g0112 a0001c0001t0008g0115 a0001c0001t0031g0117 a0002c0002t0002g0101 a0002c0002t0002g0119 a0011c0011t0002g0113	23	382	0.0602	25	c.168 others(40): Show c.168+811_168+812insCTTCCTTCCTTCCTTCCTTCCTTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHPRH_chr6_145879807_145969358	145934473	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp2 HG02809.hp2 others(17): Show HG01433.hp1 HG01891.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0003 a0002c0004 a0010c0013 a0001c0003 a0002c0004 a0010c0013	a0001c0003t0003 a0001c0003t0005 a0002c0004t0003 others(1): Show a0001c0003t0003 a0001c0003t0005 a0002c0004t0003 a0010c0013t0005	a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0005g0009 others(13): Show a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0003t0005g0009 a0001c0003t0005g0014 a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0052 a0001c0003t0005g0053 a0001c0003t0005g0055 a0001c0003t0005g0057 a0002c0004t0003g0043 a0002c0004t0003g0262 a0002c0004t0003g0263 a0002c0004t0003g0266 a0002c0004t0003g0268 a0010c0013t0005g0056	20	354	0.0565	25	c.299 others(42): Show c.2990+409_2990+433dupTATTTTATTTTATTTTATTTTATTT	SHPRH	ENSG00000146414.17	transcript	ENST00000275233.12	protein_coding	13/29			chr6	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(18): Show TAGAATAGAATAGAATAGAATAAGAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0047 a0047	a0047c0078 a0047c0078	a0047c0078t0020 a0047c0078t0020	a0047c0078t0020g0238 a0047c0078t0020g0238	1	256	0.0039	25	c.165 others(42): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAAGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar

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