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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CEP152_chr15_48732938_48816069	48758718	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01884.hp2 others(41): Show HG00408.hp2 HG01123.hp1 HG01884.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02165.hp1 HG02257.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG03710.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18999.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp1 NA19059.hp1 NA19065.hp2 NA19070.hp2 NA19081.hp1 NA19085.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0010	a0001c0001 a0002c0002 a0006c0012 others(2): Show a0001c0001 a0002c0002 a0006c0012 a0007c0006 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0006c0012t0001 a0007c0006t0001 a0010c0011t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(39): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0002g0249 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0326 a0002c0002t0002g0260 a0006c0012t0001g0057 a0006c0012t0001g0077 a0007c0006t0001g0018 a0007c0006t0001g0019 a0007c0006t0001g0026 a0010c0011t0001g0097	44	342	0.1287	8	c.269 others(27): Show c.2694+1409_2694+1416dupTTTTTTTT	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	19/26			chr15	TogoVar
CEP152_chr15_48732938_48816069	48777466	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00621.hp1 others(37): Show HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG02040.hp1 HG02647.hp2 HG02886.hp1 HG02897.hp2 HG03195.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 NA18747.hp2 NA18952.hp2 NA18955.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18972.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA19000.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19070.hp1 NA19084.hp1	a0001 a0002 a0009 others(5): Show a0001 a0002 a0009 a0017 a0019 a0022 a0023 a0026	a0001c0001 a0002c0002 a0009c0010 others(5): Show a0001c0001 a0002c0002 a0009c0010 a0017c0028 a0019c0022 a0022c0020 a0023c0019 a0026c0032	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0009c0010t0001 a0017c0028t0002 a0019c0022t0001 a0022c0020t0001 a0023c0019t0001 a0026c0032t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0028 others(35): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0001g0155 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0002g0294 a0001c0001t0002g0323 a0001c0001t0002g0326 a0002c0002t0002g0258 a0009c0010t0001g0061 a0009c0010t0001g0073 a0017c0028t0002g0287 a0019c0022t0001g0046 a0022c0020t0001g0069 a0023c0019t0001g0111 a0026c0032t0001g0149	40	342	0.1170	8	c.157 others(27): Show c.1577+3722_1577+3729dupCACACACA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	12/26			chr15	TogoVar
CEP152_chr15_48732938_48816069	48787163	G G	GTTTTTTG others(1): Show GTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01978.hp1 HG01993.hp1 others(11): Show HG01175.hp2 HG01978.hp1 HG01993.hp1 HG02109.hp1 HG02135.hp2 HG02486.hp1 HG03490.hp2 NA18747.hp1 NA18975.hp1 NA19010.hp1 NA19066.hp1 NA19076.hp2 NA19079.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0014 a0001c0001 a0001c0007 a0001c0014	a0001c0001t0001 a0001c0007t0001 a0001c0014t0001 a0001c0001t0001 a0001c0007t0001 a0001c0014t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(11): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0007t0001g0183 a0001c0007t0001g0218 a0001c0014t0001g0181	14	342	0.0409	8	c.117 others(27): Show c.1173+1637_1173+1638insACAAAAAA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	9/26			chr15	TogoVar
CEP152_chr15_48732938_48816069	48787163	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(27): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01169.hp1 HG01257.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01981.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03927.hp2 HG04204.hp2 NA18984.hp1 NA19030.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0020 a0023 others(1): Show a0001 a0020 a0023 a0027	a0001c0001 a0001c0016 a0020c0021 others(2): Show a0001c0001 a0001c0016 a0020c0021 a0023c0019 a0027c0031	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0016t0004 a0020c0021t0001 a0023c0019t0001 a0027c0031t0002	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0035 others(26): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0004g0136 a0001c0016t0004g0110 a0020c0021t0001g0137 a0023c0019t0001g0111 a0027c0031t0002g0321	30	342	0.0877	8	c.117 others(27): Show c.1173+1630_1173+1637dupAAAAAAAA	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding	9/26			chr15	TogoVar
CEP162_chr6_84119250_84232643	84154312	A A	ATATCTAT others(1): Show ATATCTATC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0019 a0001c0011t0002g0020 a0001c0011t0002g0019 a0001c0011t0002g0020	2	214	0.0094	8	c.299 others(25): Show c.2994+978_2994+985dupGATAGATA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	22/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84154330	A A	ATCTGTCT others(1): Show ATCTGTCTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02723.hp1 others(11): Show HG02258.hp1 HG02615.hp2 HG02723.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0005 a0001c0008 a0002c0002 others(2): Show a0001c0005 a0001c0008 a0002c0002 a0002c0016 a0008c0014	a0001c0005t0004 a0001c0008t0005 a0002c0002t0002 others(3): Show a0001c0005t0004 a0001c0008t0005 a0002c0002t0002 a0002c0002t0007 a0002c0016t0002 a0008c0014t0004	a0001c0005t0004g0005 a0001c0005t0004g0106 a0001c0005t0004g0195 others(11): Show a0001c0005t0004g0005 a0001c0005t0004g0106 a0001c0005t0004g0195 a0001c0008t0005g0204 a0001c0008t0005g0205 a0001c0008t0005g0206 a0002c0002t0002g0013 a0002c0002t0002g0089 a0002c0002t0002g0119 a0002c0002t0002g0146 a0002c0002t0002g0155 a0002c0002t0007g0202 a0002c0016t0002g0196 a0008c0014t0004g0115	14	214	0.0654	8	c.299 others(25): Show c.2994+960_2994+967dupCAGACAGA	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	22/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84156743	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG02965.hp2 others(4): Show HG02280.hp1 HG02717.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0004t0002 a0001c0008t0005 a0001c0001t0002 a0001c0004t0002 a0001c0008t0005	a0001c0001t0002g0140 a0001c0004t0002g0103 a0001c0004t0002g0114 others(4): Show a0001c0001t0002g0140 a0001c0004t0002g0103 a0001c0004t0002g0114 a0001c0008t0005g0203 a0001c0008t0005g0204 a0001c0008t0005g0205 a0001c0008t0005g0206	7	214	0.0327	8	c.278 others(27): Show c.2782-1241_2782-1234dupGTGTGTGT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	21/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84201283	C C	CAACAAAC others(1): Show CAACAAACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02970.hp2 HG02647.hp2 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201	3	214	0.0140	8	c.719 others(23): Show c.719-386_719-379dupTGTTTGTT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	8/26			chr6	TogoVar
CEP162_chr6_84119250_84232643	84206235	G G	GAACCAAA others(1): Show GAACCAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02258.hp1 others(16): Show HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 NA18906.hp2 NA20129.hp2	a0001 a0008 a0001 a0008	a0001c0005 a0001c0007 a0001c0008 others(1): Show a0001c0005 a0001c0007 a0001c0008 a0008c0014	a0001c0005t0004 a0001c0005t0005 a0001c0007t0002 others(2): Show a0001c0005t0004 a0001c0005t0005 a0001c0007t0002 a0001c0008t0005 a0008c0014t0004	a0001c0005t0004g0005 a0001c0005t0004g0085 a0001c0005t0004g0086 others(16): Show a0001c0005t0004g0005 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0105 a0001c0005t0004g0106 a0001c0005t0004g0107 a0001c0005t0004g0195 a0001c0005t0004g0198 a0001c0005t0005g0208 a0001c0007t0002g0017 a0001c0007t0002g0018 a0001c0007t0002g0116 a0001c0007t0002g0117 a0001c0007t0002g0118 a0001c0008t0005g0203 a0001c0008t0005g0204 a0001c0008t0005g0205 a0001c0008t0005g0206 a0008c0014t0004g0115	19	214	0.0888	8	c.572 others(25): Show c.572-2147_572-2140dupTTTTGGTT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	6/26			chr6	TogoVar
CEP164_chr11_117322854_117418266	117331981	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(11): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG02055.hp2 HG02886.hp1 HG02922.hp2 HG03017.hp1 HG03139.hp1 HG03491.hp2 NA18973.hp2 NA19062.hp1 NA19087.hp2 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0038 a0002c0001 a0002c0038	a0002c0001t0003 a0002c0001t0009 a0002c0038t0003 a0002c0001t0003 a0002c0001t0009 a0002c0038t0003	a0002c0001t0003g0010 a0002c0001t0003g0012 a0002c0001t0003g0094 others(9): Show a0002c0001t0003g0010 a0002c0001t0003g0012 a0002c0001t0003g0094 a0002c0001t0003g0095 a0002c0001t0003g0201 a0002c0001t0003g0202 a0002c0001t0003g0220 a0002c0001t0003g0221 a0002c0001t0003g0222 a0002c0001t0003g0255 a0002c0001t0009g0184 a0002c0038t0003g0203	14	390	0.0359	8	c.-97 others(25): Show c.-97-3609_-97-3602dupATATATAT	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP164_chr11_117322854_117418266	117354766	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG02132.hp1 others(2): Show HG00558.hp1 HG00621.hp1 HG02132.hp1 NA18982.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0001c0002t0002 a0002c0001t0002	a0001c0002t0002g0020 a0001c0002t0002g0339 a0001c0002t0002g0360 others(1): Show a0001c0002t0002g0020 a0001c0002t0002g0339 a0001c0002t0002g0360 a0002c0001t0002g0324	5	390	0.0128	8	c.393 others(25): Show c.393+2801_393+2808dupTATTTATT	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP164_chr11_117322854_117418266	117416435	C C	CAAAAAAA others(1): Show CAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02559.hp1 HG03041.hp2 others(9): Show HG00597.hp2 HG02559.hp1 HG03041.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18956.hp1 NA18978.hp2 NA19030.hp2 NA19054.hp2	a0006 a0009 a0010 others(3): Show a0006 a0009 a0010 a0013 a0016 a0023	a0006c0007 a0009c0020 a0009c0021 others(4): Show a0006c0007 a0009c0020 a0009c0021 a0010c0012 a0013c0018 a0016c0023 a0023c0032	a0006c0007t0006 a0009c0020t0014 a0009c0021t0019 others(4): Show a0006c0007t0006 a0009c0020t0014 a0009c0021t0019 a0010c0012t0006 a0013c0018t0014 a0016c0023t0006 a0023c0032t0020	a0006c0007t0006g0030 a0006c0007t0006g0265 a0006c0007t0006g0267 others(9): Show a0006c0007t0006g0030 a0006c0007t0006g0265 a0006c0007t0006g0267 a0006c0007t0006g0270 a0006c0007t0006g0271 a0009c0020t0014g0327 a0009c0021t0019g0082 a0010c0012t0006g0266 a0010c0012t0006g0268 a0013c0018t0014g0269 a0016c0023t0006g0031 a0023c0032t0020g0193	12	390	0.0308	8	c.42 others(19): Show c.4267_*4268insAAAAAAAA	CEP164	ENSG00000110274.16	transcript	ENST00000278935.8	protein_coding		3170		chr11	TogoVar
CEP170B_chr14_104860268_104901747	104889905	A A	AATGGATG others(1): Show AATGGATGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18952.hp1 NA19000.hp1 others(1): Show HG01496.hp2 NA18952.hp1 NA19000.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0062 a0001c0001 a0001c0062	a0001c0001t0001 a0001c0062t0002 a0001c0001t0001 a0001c0062t0002	a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0151 a0001c0062t0002g0177	4	328	0.0122	8	c.387 others(25): Show c.3878+187_3878+194dupGATGGATG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170_chr1_243119428_243260281	243119948	T T	TACCCATC others(1): Show TACCCATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01993.hp2 HG02056.hp2 others(11): Show HG01928.hp2 HG01993.hp2 HG02056.hp2 HG02109.hp1 HG02293.hp2 HG02809.hp2 HG02818.hp2 HG03041.hp1 HG03225.hp1 HG03540.hp2 HG04204.hp2 NA18522.hp1 NA18991.hp2 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0002c0002t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 others(11): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0002g0105 a0001c0001t0002g0218 a0001c0001t0008g0104 a0001c0001t0009g0057 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178	14	303	0.0462	8	c.65 others(19): Show c.6500_*6501insGGATGGGT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding		4479		chr1	TogoVar
CEP170_chr1_243119428_243260281	243159763	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01175.hp1 HG01358.hp1 others(5): Show HG01071.hp1 HG01175.hp1 HG01358.hp1 HG01496.hp1 HG02056.hp2 HG02647.hp2 NA18943.hp1 NA19000.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0001c0001t0001 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0032 a0001c0001t0001g0087 a0001c0001t0001g0088 others(5): Show a0001c0001t0001g0032 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0002c0002t0001g0167 a0002c0002t0001g0168 a0003c0003t0003g0157	8	303	0.0264	8	c.367 others(27): Show c.3677-3316_3677-3309dupCACACACA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	13/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243226187	A A	ATATATAC others(1): Show ATATATACC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02280.hp2 HG02486.hp2 others(11): Show HG01261.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02818.hp1 HG02895.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp2 NA18940.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0001c0001t0001 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 others(11): Show a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0003g0112 a0002c0002t0003g0121	14	303	0.0462	8	c.-41 others(23): Show c.-41-867_-41-866insGGTATATA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243243497	G G	GATTTATT others(1): Show GATTTATTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp1 HG01261.hp2 others(19): Show HG00609.hp1 HG01106.hp1 HG01261.hp2 HG01884.hp2 HG01978.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02896.hp1 HG02922.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA18943.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0003c0003t0003	a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(19): Show a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0001g0142 a0001c0001t0001g0225 a0001c0001t0002g0009 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0008g0104 a0003c0003t0003g0103 a0003c0003t0003g0107 a0003c0003t0003g0149 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0153 a0003c0003t0003g0154 a0003c0003t0003g0155 a0003c0003t0003g0156 a0003c0003t0003g0161	22	303	0.0726	8	c.-42 others(27): Show c.-42+11535_-42+11542dupAAATAAAT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243249418	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01175.hp1 HG01358.hp1 others(1): Show HG01071.hp1 HG01175.hp1 HG01358.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090	4	303	0.0132	8	c.-42 others(25): Show c.-42+5614_-42+5621dupATTTATTT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP170_chr1_243119428_243260281	243254187	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02280.hp1 others(14): Show HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA19240.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0007 a0001c0014 others(3): Show a0001c0001 a0001c0007 a0001c0014 a0003c0003 a0003c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0007t0001 a0001c0014t0001 a0003c0003t0003 a0003c0009t0003 a0006c0008t0002	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0106 others(14): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0105 a0001c0001t0008g0104 a0001c0007t0001g0099 a0001c0007t0001g0100 a0001c0014t0001g0110 a0003c0003t0003g0103 a0003c0003t0003g0107 a0003c0009t0003g0108 a0003c0009t0003g0109 a0006c0008t0002g0101 a0006c0008t0002g0102	17	303	0.0561	8	c.-42 others(23): Show c.-42+845_-42+852dupATTTATTT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP192_chr18_12986362_13130036	13000091	C C	CTCTCTTT others(1): Show CTCTCTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01361.hp1 HG01496.hp2 others(10): Show HG00438.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01978.hp2 HG02074.hp2 HG02109.hp2 HG03471.hp1 HG03492.hp2 HG04204.hp2 NA18945.hp2 NA18950.hp2 NA19002.hp1	a0002 a0036 a0002 a0036	a0002c0001 a0036c0020 a0002c0001 a0036c0020	a0002c0001t0001 a0036c0020t0001 a0002c0001t0001 a0036c0020t0001	a0002c0001t0001g0294 a0002c0001t0001g0295 a0002c0001t0001g0310 others(10): Show a0002c0001t0001g0294 a0002c0001t0001g0295 a0002c0001t0001g0310 a0002c0001t0001g0311 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0318 a0002c0001t0001g0349 a0036c0020t0001g0355	13	392	0.0332	8	c.164 others(23): Show c.164+504_164+505insCTCTTTTT	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	2/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP192_chr18_12986362_13130036	13066963	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG01099.hp2 others(20): Show HG00597.hp1 HG00673.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01516.hp1 HG02071.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02723.hp2 HG02922.hp2 HG02976.hp2 HG03704.hp2 HG06807.hp1 NA18941.hp1 NA19055.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19085.hp2 NA19240.hp2	a0002 a0005 a0011 others(3): Show a0002 a0005 a0011 a0013 a0019 a0020	a0002c0001 a0005c0005 a0011c0011 others(3): Show a0002c0001 a0005c0005 a0011c0011 a0013c0029 a0019c0019 a0020c0046	a0002c0001t0001 a0005c0005t0001 a0011c0011t0001 others(3): Show a0002c0001t0001 a0005c0005t0001 a0011c0011t0001 a0013c0029t0003 a0019c0019t0001 a0020c0046t0001	a0002c0001t0001g0320 a0002c0001t0001g0327 a0005c0005t0001g0015 others(19): Show a0002c0001t0001g0320 a0002c0001t0001g0327 a0005c0005t0001g0015 a0005c0005t0001g0121 a0005c0005t0001g0128 a0005c0005t0001g0134 a0005c0005t0001g0135 a0005c0005t0001g0138 a0005c0005t0001g0140 a0005c0005t0001g0143 a0005c0005t0001g0148 a0005c0005t0001g0149 a0005c0005t0001g0150 a0005c0005t0001g0161 a0005c0005t0001g0285 a0011c0011t0001g0283 a0011c0011t0001g0284 a0011c0011t0001g0288 a0011c0011t0001g0289 a0013c0029t0003g0215 a0019c0019t0001g0166 a0020c0046t0001g0287	23	392	0.0587	8	c.448 others(25): Show c.4489-839_4489-832dupTGTGTGTG	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	21/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CEP19_chr3_196701277_196717250	196715735	A A	AGTGCAGT others(1): Show AGTGCAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03195.hp2 HG03225.hp1 HG02647.hp1 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0053 a0001c0001t0013g0037 a0001c0001t0007g0053 a0001c0001t0013g0037	3	432	0.0069	8	c.-38 others(19): Show c.-3885_-3878dupCACTGCAC	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		3486		chr3	TogoVar
CEP20_chr16_15860719_15893603	15882742	T T	TCTATCTA others(1): Show TCTATCTAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG03710.hp1 HG02647.hp1 HG02809.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0236 a0001c0001t0001g0050 a0001c0001t0001g0236	3	433	0.0069	8	c.226 others(25): Show c.226+1265_226+1266insGTAGATAG	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	2/4			chr16	TogoVar
CEP20_chr16_15860719_15893603	15882784	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 NA18985.hp2 HG00733.hp1 HG00733.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0125 a0001c0001t0002g0229 a0001c0001t0003g0199 a0001c0001t0002g0125 a0001c0001t0002g0229 a0001c0001t0003g0199	3	433	0.0069	8	c.226 others(25): Show c.226+1216_226+1223dupGTGTGTGT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding	2/4			chr16	TogoVar
CEP20_chr16_15860719_15893603	15890556	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 NA18979.hp1 NA19003.hp2 others(3): Show HG01169.hp1 NA18979.hp1 NA19003.hp2 NA19011.hp2 NA19056.hp2 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0008 a0002c0002t0004g0012 a0002c0002t0004g0015 others(2): Show a0002c0002t0004g0008 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0081 a0002c0002t0004g0089	6	433	0.0139	8	c.-19 others(19): Show c.-1972_-1971insTTTTTTTT	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		1954		chr16	TogoVar
CEP20_chr16_15860719_15893603	15891647	C C	CCCTTCCT others(1): Show CCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(74): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00621.hp2 HG00735.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19091.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0002c0002t0004 others(3): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0004 a0002c0002t0012 a0002c0002t0013 a0003c0003t0004	a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0005g0018 others(43): Show a0001c0001t0001g0088 a0001c0001t0001g0106 a0001c0001t0005g0018 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0070 a0001c0001t0005g0071 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0012 a0002c0002t0004g0015 a0002c0002t0004g0019 a0002c0002t0004g0020 a0002c0002t0004g0031 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0072 a0002c0002t0004g0073 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0078 a0002c0002t0004g0079 a0002c0002t0004g0081 a0002c0002t0004g0083 a0002c0002t0004g0084 a0002c0002t0004g0085 a0002c0002t0004g0086 a0002c0002t0004g0089 a0002c0002t0004g0090 a0002c0002t0004g0091 a0002c0002t0004g0092 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0012g0098 a0002c0002t0013g0087 a0003c0003t0004g0030	77	433	0.1778	8	c.-30 others(19): Show c.-3063_-3062insAAGGAAGG	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		3045		chr16	TogoVar
CEP250_chr20_35450598_35524280	35482048	A A	AATAGATA others(1): Show AATAGATAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp2 HG02965.hp1 others(5): Show HG01109.hp2 HG01192.hp2 HG02965.hp1 HG03491.hp1 HG03704.hp1 HG04115.hp2 NA18961.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0042 others(3): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0042 a0001c0003t0004 a0001c0005t0011 a0002c0002t0002	a0001c0001t0001g0160 a0001c0001t0001g0235 a0001c0001t0012g0215 others(5): Show a0001c0001t0001g0160 a0001c0001t0001g0235 a0001c0001t0012g0215 a0001c0001t0042g0105 a0001c0003t0004g0018 a0001c0003t0004g0021 a0001c0005t0011g0142 a0002c0002t0002g0051	8	260	0.0308	8	c.258 others(27): Show c.2586+1954_2586+1961dupAGATAGAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP290_chr12_88044016_88147088	88086704	T T	TATCCATC others(1): Show TATCCATCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show HG01884.hp1 HG02647.hp1 HG02895.hp1 HG03225.hp2	a0008 a0015 a0008 a0015	a0008c0011 a0015c0021 a0008c0011 a0015c0021	a0008c0011t0001 a0015c0021t0001 a0008c0011t0001 a0015c0021t0001	a0008c0011t0001g0017 a0008c0011t0001g0018 a0008c0011t0001g0019 others(1): Show a0008c0011t0001g0017 a0008c0011t0001g0018 a0008c0011t0001g0019 a0015c0021t0001g0020	4	234	0.0171	8	c.419 others(25): Show c.4195-214_4195-207dupGGATGGAT	CEP290	ENSG00000198707.17	transcript	ENST00000552810.6	protein_coding	32/53			chr12	TogoVar
CEP295_chr11_93656682_93735358	93685700	C C	CTTTGTTT others(1): Show CTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(125): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0015 a0016 a0018 a0020 a0025 a0026 a0033	a0001c0001 a0001c0016 a0002c0002 others(9): Show a0001c0001 a0001c0016 a0002c0002 a0004c0009 a0005c0006 a0015c0035 a0016c0034 a0018c0024 a0020c0025 a0025c0029 a0026c0027 a0033c0042	a0001c0001t0001 a0001c0016t0001 a0002c0002t0001 others(9): Show a0001c0001t0001 a0001c0016t0001 a0002c0002t0001 a0004c0009t0001 a0005c0006t0001 a0015c0035t0001 a0016c0034t0001 a0018c0024t0001 a0020c0025t0001 a0025c0029t0001 a0026c0027t0001 a0033c0042t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0016t0001g0009 a0002c0002t0001g0119 a0004c0009t0001g0037 a0004c0009t0001g0038 a0004c0009t0001g0124 a0005c0006t0001g0062 a0015c0035t0001g0061 a0016c0034t0001g0060 a0018c0024t0001g0172 a0020c0025t0001g0010 a0025c0029t0001g0145 a0026c0027t0001g0131 a0033c0042t0001g0154	128	354	0.3616	8	c.111 others(27): Show c.1114+1592_1114+1599dupGTTTGTTT	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP295_chr11_93656682_93735358	93721665	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02004.hp1 NA18945.hp2 others(1): Show HG00408.hp2 HG02004.hp1 NA18945.hp2 NA18954.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0001 a0005c0014t0001 a0001c0001t0001 a0005c0014t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0213 others(1): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0213 a0005c0014t0001g0077	4	354	0.0113	8	c.585 others(25): Show c.5851-260_5851-253dupGTGTGTGT	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP350_chr1_179949810_180119875	179991667	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG01069.hp1 others(12): Show HG00544.hp2 HG00639.hp1 HG01069.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG02015.hp1 HG02027.hp1 HG02258.hp2 HG02572.hp2 HG04228.hp2 HG06807.hp2 NA18971.hp2 NA19012.hp1 NA19063.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0013	a0001c0001t0001 a0002c0002t0005 a0002c0002t0007 others(2): Show a0001c0001t0001 a0002c0002t0005 a0002c0002t0007 a0003c0003t0002 a0003c0013t0002	a0001c0001t0001g0159 a0002c0002t0005g0124 a0002c0002t0005g0125 others(11): Show a0001c0001t0001g0159 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0134 a0002c0002t0005g0135 a0002c0002t0005g0136 a0002c0002t0007g0001 a0003c0003t0002g0079 a0003c0003t0002g0081 a0003c0003t0002g0104 a0003c0003t0002g0105 a0003c0003t0002g0225 a0003c0013t0002g0110 a0003c0013t0002g0111	15	248	0.0605	8	c.236 others(23): Show c.236-361_236-354dupGTGTGTGT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	179991707	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp2 HG01099.hp1 others(22): Show HG00558.hp1 HG01069.hp2 HG01099.hp1 HG01243.hp2 HG01346.hp2 HG02015.hp2 HG02056.hp2 HG02280.hp2 HG02965.hp2 HG03195.hp1 HG03239.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18967.hp1 NA18975.hp1 NA18988.hp1 NA19005.hp1 NA19063.hp1 NA19068.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0005 a0001c0001 a0004c0004 a0005c0005	a0001c0001t0001 a0004c0004t0003 a0005c0005t0002 a0001c0001t0001 a0004c0004t0003 a0005c0005t0002	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 others(22): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0241 a0004c0004t0003g0048 a0004c0004t0003g0053 a0004c0004t0003g0055 a0004c0004t0003g0057 a0005c0005t0002g0138 a0005c0005t0002g0140 a0005c0005t0002g0141	25	248	0.1008	8	c.236 others(23): Show c.236-354_236-353insGTGTGTAT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004902	G G	GCTTTCTT others(1): Show GCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 NA21309.hp1 HG01167.hp2 HG01169.hp2 NA21309.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0012 a0002c0002 a0012c0012	a0002c0002t0005 a0012c0012t0009 a0002c0002t0005 a0012c0012t0009	a0002c0002t0005g0125 a0002c0002t0005g0135 a0012c0012t0009g0066 a0002c0002t0005g0125 a0002c0002t0005g0135 a0012c0012t0009g0066	3	248	0.0121	8	c.113 others(27): Show c.1133-1549_1133-1548insTCTTTCTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004906	G G	GCTTGCTT others(1): Show GCTTGCTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02135.hp2 HG02622.hp2 others(1): Show HG00544.hp1 HG02135.hp2 HG02622.hp2 HG03540.hp2	a0003 a0010 a0003 a0010	a0003c0003 a0010c0015 a0003c0003 a0010c0015	a0003c0003t0002 a0010c0015t0002 a0003c0003t0002 a0010c0015t0002	a0003c0003t0002g0099 a0003c0003t0002g0113 a0010c0015t0002g0132 others(1): Show a0003c0003t0002g0099 a0003c0003t0002g0113 a0010c0015t0002g0132 a0010c0015t0002g0133	4	248	0.0161	8	c.113 others(27): Show c.1133-1545_1133-1544insGCTTTCTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180004906	G G	GCTTTCTT others(1): Show GCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01516.hp1 HG01517.hp1 others(10): Show HG01099.hp2 HG01516.hp1 HG01517.hp1 HG02257.hp1 HG02896.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 NA18522.hp1 NA18967.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0008	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0008c0009	a0002c0002t0005 a0002c0002t0007 a0003c0003t0002 others(2): Show a0002c0002t0005 a0002c0002t0007 a0003c0003t0002 a0004c0004t0003 a0008c0009t0008	a0002c0002t0005g0123 a0002c0002t0007g0068 a0003c0003t0002g0086 others(10): Show a0002c0002t0005g0123 a0002c0002t0007g0068 a0003c0003t0002g0086 a0003c0003t0002g0102 a0003c0003t0002g0108 a0004c0004t0003g0047 a0004c0004t0003g0049 a0004c0004t0003g0050 a0004c0004t0003g0052 a0004c0004t0003g0062 a0004c0004t0003g0063 a0008c0009t0008g0008 a0008c0009t0008g0009	13	248	0.0524	8	c.113 others(27): Show c.1133-1506_1133-1499dupTTTCTTTC	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180007839	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp1 HG01069.hp2 others(41): Show HG00544.hp2 HG00733.hp1 HG01069.hp2 HG01074.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01496.hp2 HG01928.hp1 HG02004.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02486.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp1 HG03239.hp2 HG03490.hp2 HG03654.hp2 HG03834.hp2 NA18612.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18975.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19078.hp2 NA19083.hp1 NA19084.hp2 NA20129.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0014 a0019 a0021 a0023	a0001c0001 a0002c0002 a0002c0022 others(5): Show a0001c0001 a0002c0002 a0002c0022 a0005c0005 a0014c0026 a0019c0017 a0021c0025 a0023c0030	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 others(10): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0002c0002t0002 a0002c0002t0004 a0002c0002t0016 a0002c0022t0002 a0005c0005t0002 a0014c0026t0001 a0019c0017t0001 a0021c0025t0013 a0023c0030t0001	a0001c0001t0001g0072 a0001c0001t0001g0145 a0001c0001t0001g0147 others(41): Show a0001c0001t0001g0072 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0012g0195 a0001c0001t0014g0206 a0001c0001t0017g0208 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0016g0246 a0002c0022t0002g0002 a0005c0005t0002g0126 a0005c0005t0002g0138 a0014c0026t0001g0183 a0019c0017t0001g0162 a0021c0025t0013g0180 a0023c0030t0001g0218	44	248	0.1774	8	c.124 others(27): Show c.1246+1305_1246+1312dupGTGTGTGT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180015210	G G	GTTTATTT others(1): Show GTTTATTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01516.hp1 HG01517.hp1 others(3): Show HG00544.hp2 HG01516.hp1 HG01517.hp1 HG02698.hp1 HG03486.hp1 NA18950.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0007 a0004c0004 a0001c0001 a0002c0007 a0004c0004	a0001c0001t0001 a0002c0007t0002 a0004c0004t0003 a0001c0001t0001 a0002c0007t0002 a0004c0004t0003	a0001c0001t0001g0157 a0001c0001t0001g0159 a0002c0007t0002g0243 others(3): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0002c0007t0002g0243 a0004c0004t0003g0062 a0004c0004t0003g0063 a0004c0004t0003g0064	6	248	0.0242	8	c.205 others(25): Show c.2053-603_2053-596dupATTTATTT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	10/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP41_chr7_130388771_130446016	130392347	G G	GACACACA others(1): Show GACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01975.hp1 HG02015.hp2 others(28): Show HG00597.hp2 HG01975.hp1 HG02015.hp2 HG02109.hp2 HG02129.hp1 HG02280.hp1 HG02572.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp2 HG03831.hp2 NA18950.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18982.hp2 NA18994.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0047 a0001c0001t0052 a0001c0001t0080 a0001c0001t0086	a0001c0001t0001g0001 a0001c0001t0001g0271 a0001c0001t0002g0009 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0271 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0057 a0001c0001t0002g0086 a0001c0001t0003g0079 a0001c0001t0005g0142 a0001c0001t0006g0012 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0111 a0001c0001t0008g0306 a0001c0001t0009g0107 a0001c0001t0009g0119 a0001c0001t0012g0072 a0001c0001t0012g0076 a0001c0001t0014g0248 a0001c0001t0017g0230 a0001c0001t0019g0145 a0001c0001t0019g0157 a0001c0001t0019g0163 a0001c0001t0020g0014 a0001c0001t0020g0122 a0001c0001t0026g0308 a0001c0001t0047g0054 a0001c0001t0052g0042 a0001c0001t0080g0215 a0001c0001t0086g0283	31	346	0.0896	8	c.65 others(19): Show c.6543_*6544insGTGTGTGT	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding		1423		chr7	TogoVar
CEP41_chr7_130388771_130446016	130392391	C C	CACACACA others(1): Show CACACACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03017.hp2 HG03490.hp2 others(7): Show HG02922.hp2 HG03017.hp2 HG03490.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 NA18948.hp1 NA18948.hp2 NA18970.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018	a0001c0001t0001g0255 a0001c0001t0002g0048 a0001c0001t0004g0018 others(7): Show a0001c0001t0001g0255 a0001c0001t0002g0048 a0001c0001t0004g0018 a0001c0001t0004g0190 a0001c0001t0004g0196 a0001c0001t0004g0203 a0001c0001t0004g0205 a0001c0001t0007g0247 a0001c0001t0018g0200 a0001c0001t0018g0202	10	346	0.0289	8	c.64 others(19): Show c.6499_*6500insTTGTGTGT	CEP41	ENSG00000106477.20	transcript	ENST00000223208.10	protein_coding		1379		chr7	TogoVar
CEP43_chr6_166994397_167057718	167022259	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp1 HG02970.hp2 others(2): Show HG02717.hp2 HG02922.hp1 HG02970.hp2 HG03486.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0042 a0001c0001t0061 a0001c0001t0104 others(2): Show a0001c0001t0042 a0001c0001t0061 a0001c0001t0104 a0001c0001t0122 a0002c0002t0103	a0001c0001t0042g0061 a0001c0001t0061g0065 a0001c0001t0104g0057 others(2): Show a0001c0001t0042g0061 a0001c0001t0061g0065 a0001c0001t0104g0057 a0001c0001t0122g0068 a0002c0002t0103g0199	5	376	0.0133	8	c.580 others(23): Show c.580-120_580-113dupCACACACA	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP43_chr6_166994397_167057718	167042814	T T	TTGTGTGT others(1): Show TTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02622.hp2 others(7): Show HG01109.hp1 HG02280.hp2 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0063 a0001c0001t0121 a0003c0003t0009 others(3): Show a0001c0001t0063 a0001c0001t0121 a0003c0003t0009 a0003c0003t0081 a0003c0003t0082 a0003c0003t0083	a0001c0001t0063g0076 a0001c0001t0121g0052 a0003c0003t0009g0035 others(5): Show a0001c0001t0063g0076 a0001c0001t0121g0052 a0003c0003t0009g0035 a0003c0003t0009g0036 a0003c0003t0009g0191 a0003c0003t0081g0034 a0003c0003t0082g0034 a0003c0003t0083g0192	10	376	0.0266	8	c.28 others(19): Show c.2854_*2861dupGTGTGTGT	CEP43	ENSG00000213066.14	transcript	ENST00000366847.9	protein_coding	13/13	2862	INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP44_chr4_174278911_174325328	174291782	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03654.hp2 NA18957.hp1 others(3): Show HG00323.hp2 HG03654.hp2 NA18957.hp1 NA18962.hp1 NA18977.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0004 a0002c0002t0030 a0002c0008t0004 a0002c0002t0004 a0002c0002t0030 a0002c0008t0004	a0002c0002t0004g0022 a0002c0002t0004g0069 a0002c0002t0004g0070 others(2): Show a0002c0002t0004g0022 a0002c0002t0004g0069 a0002c0002t0004g0070 a0002c0002t0030g0068 a0002c0008t0004g0063	6	388	0.0155	8	c.-14 others(27): Show c.-147-6180_-147-6179insTTTTTTTT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP44_chr4_174278911_174325328	174297651	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02280.hp1 HG02922.hp2 others(3): Show HG01074.hp2 HG02280.hp1 HG02922.hp2 NA18974.hp2 NA18987.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0003t0011 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0011 a0002c0002t0017	a0001c0001t0001g0113 a0001c0001t0001g0157 a0001c0001t0008g0112 others(2): Show a0001c0001t0001g0113 a0001c0001t0001g0157 a0001c0001t0008g0112 a0001c0003t0011g0255 a0002c0002t0017g0019	6	388	0.0155	8	c.-14 others(25): Show c.-147-288_-147-281dupGTGTGTGT	CEP44	ENSG00000164118.13	transcript	ENST00000503780.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CEP55_chr10_93491612_93534092	93512226	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(139): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp2 HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02630.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0018	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0018c0020	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0003c0003t0009 a0004c0004t0001 a0004c0004t0002 a0005c0005t0001 a0006c0006t0001 a0018c0020t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(92): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0002g0015 a0001c0001t0002g0129 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0002g0013 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0119 a0003c0003t0002g0005 a0003c0003t0002g0010 a0003c0003t0002g0017 a0003c0003t0002g0039 a0003c0003t0002g0050 a0003c0003t0002g0138 a0003c0003t0002g0147 a0003c0003t0002g0150 a0003c0003t0002g0157 a0003c0003t0002g0159 a0003c0003t0002g0171 a0003c0003t0002g0176 a0003c0003t0002g0188 a0003c0003t0002g0192 a0003c0003t0009g0063 a0004c0004t0001g0181 a0004c0004t0002g0011 a0004c0004t0002g0019 a0004c0004t0002g0033 a0004c0004t0002g0037 a0004c0004t0002g0040 a0004c0004t0002g0041 a0004c0004t0002g0140 a0004c0004t0002g0153 a0004c0004t0002g0158 a0004c0004t0002g0161 a0004c0004t0002g0177 a0004c0004t0002g0189 a0004c0004t0002g0191 a0005c0005t0001g0016 a0005c0005t0001g0036 a0005c0005t0001g0128 a0005c0005t0001g0134 a0005c0005t0001g0154 a0005c0005t0001g0162 a0005c0005t0001g0165 a0005c0005t0001g0166 a0005c0005t0001g0167 a0005c0005t0001g0182 a0005c0005t0001g0184 a0005c0005t0001g0186 a0005c0005t0001g0198 a0006c0006t0001g0089 a0018c0020t0001g0004	142	386	0.3679	8	c.529 others(25): Show c.529-3172_529-3165dupAAAAAAAA	CEP55	ENSG00000138180.16	transcript	ENST00000371485.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CEP57L1_chr6_109090507_109179418	109177637	A A	AATATATA others(1): Show AATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(17): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01891.hp1 HG02027.hp2 HG02145.hp1 HG02145.hp2 HG02615.hp2 HG02622.hp2 HG02738.hp2 HG03225.hp1 HG03540.hp2 HG03688.hp1 HG06807.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0049 a0001c0001t0065 a0001c0001t0067 a0001c0001t0087 a0001c0003t0005 a0003c0005t0034 a0003c0005t0035	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0121 others(16): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0121 a0001c0001t0001g0158 a0001c0001t0001g0188 a0001c0001t0002g0047 a0001c0001t0007g0140 a0001c0001t0012g0218 a0001c0001t0012g0220 a0001c0001t0013g0190 a0001c0001t0015g0175 a0001c0001t0021g0104 a0001c0001t0049g0185 a0001c0001t0065g0147 a0001c0001t0067g0186 a0001c0001t0087g0159 a0001c0003t0005g0003 a0003c0005t0034g0208 a0003c0005t0035g0215	20	228	0.0877	8	c.14 others(21): Show c.14667_*14668insATATATAT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding		3220		chr6	TogoVar
CEP63_chr3_134481057_134570031	134494092	A A	ATATTTAT others(1): Show ATATTTATT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02074.hp1 HG02145.hp1 others(8): Show HG01175.hp1 HG02074.hp1 HG02145.hp1 HG02738.hp2 NA18939.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA20300.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0002 a0001c0001t0006 a0006c0012t0016 a0001c0001t0002 a0001c0001t0006 a0006c0012t0016	a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0067 others(8): Show a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0006g0072 a0001c0001t0006g0073 a0006c0012t0016g0093	11	322	0.0342	8	c.-25 others(25): Show c.-25-1170_-25-1163dupATTTATTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134528569	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp2 HG01891.hp1 others(17): Show HG00140.hp1 HG01109.hp2 HG01891.hp1 HG02015.hp1 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03453.hp1 NA18947.hp1 NA18951.hp1 NA18974.hp2 NA18986.hp2 NA18988.hp1 NA18994.hp2 NA18998.hp2 NA19030.hp1 NA19065.hp2 NA19084.hp1 NA19085.hp1 NA19091.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0013 a0008c0008	a0001c0001t0001 a0001c0001t0020 a0001c0003t0003 others(3): Show a0001c0001t0001 a0001c0001t0020 a0001c0003t0003 a0002c0002t0001 a0005c0013t0007 a0008c0008t0003	a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0001g0207 others(17): Show a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0221 a0001c0001t0001g0287 a0001c0001t0020g0092 a0001c0003t0003g0156 a0001c0003t0003g0165 a0001c0003t0003g0181 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0195 a0001c0003t0003g0201 a0001c0003t0003g0202 a0001c0003t0003g0203 a0002c0002t0001g0244 a0002c0002t0001g0308 a0005c0013t0007g0112 a0008c0008t0003g0182	20	322	0.0621	8	c.223 others(25): Show c.223-3258_223-3251dupTGTGTGTG	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134538531	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01255.hp2 HG02015.hp1 others(4): Show HG00609.hp2 HG01255.hp2 HG02015.hp1 HG02922.hp2 NA18947.hp1 NA18974.hp2 NA19076.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0008 a0001c0001 a0001c0003 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0008c0008t0003	a0001c0001t0001g0299 a0001c0001t0002g0060 a0001c0001t0002g0104 others(4): Show a0001c0001t0001g0299 a0001c0001t0002g0060 a0001c0001t0002g0104 a0001c0003t0003g0156 a0001c0003t0003g0165 a0001c0003t0003g0200 a0008c0008t0003g0182	7	322	0.0217	8	c.555 others(25): Show c.555+1264_555+1265insATATATAT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP70_chr3_138489344_138599260	138499783	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp2 others(74): Show HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG01255.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02165.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18956.hp1 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18983.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19086.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0012 a0003c0003 a0002c0002 a0002c0012 a0003c0003	a0002c0002t0002 a0002c0012t0002 a0003c0003t0003 a0002c0002t0002 a0002c0012t0002 a0003c0003t0003	a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 others(62): Show a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0012t0002g0268 a0003c0003t0003g0059	77	318	0.2421	8	c.165 others(25): Show c.1652+319_1652+326dupGTGTGTGT	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	16/17			chr3	TogoVar
CEP70_chr3_138489344_138599260	138544509	G G	GTGTATGT others(1): Show GTGTATGTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02622.hp2 HG03225.hp1 others(2): Show HG01496.hp1 HG02622.hp2 HG03225.hp1 HG03942.hp2 HG04199.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0039 a0003c0003t0003g0064 a0003c0003t0003g0065 others(2): Show a0003c0003t0003g0039 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0107 a0003c0003t0003g0213	5	318	0.0157	8	c.466 others(25): Show c.466-7170_466-7163dupTACATACA	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	6/17			chr3	TogoVar

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